Sample records for adrenarche

  1. Premature adrenarche.

    Leung, Alexander K C; Robson, Wm Lane M


    Premature adrenarche refers to the precocious secretion of adrenal androgens, which results in the isolated development of pubic hair (pubarche) before the age of eight years in girls and nine years in boys. The female to male ratio is approximately 10:1. Dark, coarse and curly hair is limited initially to the labia majora in girls and to the root of the penis in boys. The hair extends gradually into the pubic region. Axillary hair, increased body odor, and acne can also be present. Hirsutism, deepening of the voice, clitoral enlargement, breast development, and phallic or testicular enlargement are characteristically absent. A transient acceleration of growth is common but final height is usually not affected. The onset of puberty usually occurs at the normal age. Premature adrenarche can be a forerunner of polycystic ovary syndrome and/or syndrome X. Continued observation and periodic re-evaluation is necessary. PMID:18590867

  2. Premature adrenarche: etiology, clinical findings, and consequences.

    Voutilainen, Raimo; Jääskeläinen, Jarmo


    Adrenarche means the morphological and functional change of the adrenal cortex leading to increasing production of adrenal androgen precursors (AAPs) in mid childhood, typically at around 5-8 years of age in humans. The AAPs dehydroepiandrosterone (DHEA) and its sulfate conjugate (DHEAS) are the best serum markers of adrenal androgen (AA) secretion and adrenarche. Normal ACTH secretion and action are needed for adrenarche, but additional inherent and exogenous factors regulate AA secretion. Inter-individual variation in the timing of adrenarche and serum concentrations of DHEA(S) in adolescence and adulthood are remarkable. Premature adrenarche (PA) is defined as the appearance of clinical signs of androgen action (pubic/axillary hair, adult type body odor, oily skin or hair, comedones, acne, accelerated statural growth) before the age of 8 years in girls or 9 years in boys associated with AAP concentrations high for the prepubertal chronological age. To accept the diagnosis of PA, central puberty, adrenocortical and gonadal sex hormone secreting tumors, congenital adrenal hyperplasia, and exogenous source of androgens need to be excluded. The individually variable peripheral conversion of circulating AAPs to biologically more active androgens (testosterone, dihydrotestosterone) and the androgen receptor activity in the target tissues are as important as the circulating AAP concentrations as determinants of androgen action. PA has gained much attention during the last decades, as it has been associated with small birth size, the metabolic and polycystic ovarian syndrome (PCOS), and thus with an increased risk for type 2 diabetes and cardiovascular diseases in later life. The aim of this review is to describe the known hormonal changes and their possible regulators in on-time and premature adrenarche, and the clinical features and possible later health problems associating with PA. PMID:24923732

  3. Premature adrenarche--a common condition with variable presentation.

    Utriainen, Pauliina; Laakso, Saila; Liimatta, Jani; Jääskeläinen, Jarmo; Voutilainen, Raimo


    Adrenarche refers to a maturational increase in the secretion of adrenal androgen precursors, mainly dehydroepiandrosterone (DHEA) and its sulfate (DHEAS). In premature adrenarche (PA), clinical signs of androgen action appear before the age of 8/9 years in girls/boys, concurrently with the circulating DHEA(S) concentrations above the usually low prepubertal level. The most pronounced sign of PA is the appearance of pubic/axillary hair, but also other signs of androgen effect (adult type body odor, acne/comedones, greasy hair, accelerated statural growth) are important to recognize. PA children are often overweight and taller than their peers, and the higher prevalence of PA in girls than in boys is probably explained by higher female adiposity and peripheral DHEA(S) conversion to active androgens. PA diagnosis requires exclusion of other causes of androgen excess: congenital adrenal hyperplasia, androgen-producing tumors, precocious puberty, and exogenous source of androgens. PA has been linked with unfavorable metabolic features including hyperinsulinism, dyslipidemia, and later-appearing ovarian hyperandrogenism. Although this common condition is usually benign, PA children with additional risk factors including obesity should be followed up, with the focus on weight and lifestyle. Long-term follow-up studies are warranted to clarify if the metabolic changes detected in PA children persist until adulthood. PMID:25676474

  4. Bone age advancement in prepubertal children with obesity and premature adrenarche: possible potentiating factors

    Sopher, Aviva B.; Jean, Amy M.; Zwany, Sarah K.; Winston, Diana M.; Pomeranz, Christy B.; Bell, Jennifer J.; McMahon, Donald J.; Hassoun, Abeer; Fennoy, Ilene; Oberfield, Sharon E.


    Obesity and premature adrenarche (PA) are both associated with bone age (BA) advancement of unclear etiology, which may lead to earlier puberty, suboptimal final height and obesity in adulthood. Our objective was to understand the hormonal and anthropometric characteristics of BA advancement in a spectrum of prepubertal children with and without obesity and PA.

  5. LH Dynamics in Overweight Girls with Premature Adrenarche and Slowly Progressive Sexual Precocity

    Rosenfield RobertL; Littlejohn Elizabeth; Bordini Brian


    Background. Excess adiposity and premature adrenarche (PA) are risk factors for the development of polycystic ovary syndrome (PCOS). Methods. Girls with slowly progressive precocious breast development, who were overweight and had PA (SPPOPA, 6.2–8.2 years, ), overweight PA (6.6–10.8 years, ), and overweight premenarcheal controls (OW-PUB, 10.6–12.8 years, ) underwent hormonal sleep testing and GnRH agonist (GnRHag) and ACTH tests. Results. Despite an insignificant sleep-related increase in ...

  6. LH Dynamics in Overweight Girls with Premature Adrenarche and Slowly Progressive Sexual Precocity

    Brian Bordini; Elizabeth Littlejohn; Rosenfield, Robert L.


    Background. Excess adiposity and premature adrenarche (PA) are risk factors for the development of polycystic ovary syndrome (PCOS). Methods. Girls with slowly progressive precocious breast development, who were overweight and had PA (SPPOPA, 6.2–8.2 years, n = 5), overweight PA (6.6–10.8 years, n = 7), and overweight premenarcheal controls (OW-PUB, 10.6–12.8 years, n = 8) underwent hormonal sleep testing and GnRH agonist (GnRHag) and ACTH tests. Results. Despite an insignificant sleep-relate...

  7. Delayed Adrenarche may be an Additional Feature of Immunoglobulin Super Family Member 1 Deficiency Syndrome.

    Hulle, Severine Van; Craen, Margarita; Callewaert, Bert; Joustra, Sjoerd; Oostdijk, Wilma; Losekoot, Monique; Wit, Jan Maarten; Turgeon, Marc Olivier; Bernard, Daniel J; Schepper, Jean De


    Immunoglobulin super family member 1 (IGSF1) deficiency syndrome is characterized by central hypothyroidism, delayed surge in testosterone during puberty, macro-orchidism, and in some cases, hypoprolactinemia and/or transient growth hormone (GH) deficiency. Our patient was a 19-year-old male adolescent who had been treated since the age of 9 years with GH and thyroxine for an idiopathic combined GH, thyroid-stimulating hormone (TSH), and prolactin (PRL) deficiency. His GH deficiency proved to be transient, but deficiencies of TSH and PRL persisted, and he had developed macro-orchidism since the end of puberty. Brain magnetic resonance imaging and PROP1 and POU1F1 sequencing were normal. A disharmonious puberty (delayed genital and pubic hair development, bone maturation, and pubertal growth spurt, despite normal testicular growth) was observed as well as a delayed adrenarche, as reflected by very low dehydroepiandrosterone sulfate and delayed pubarche. Direct sequencing of the IGSF1 gene revealed a novel hemizygous mutation, c.3127T>C, p.Cys1043Arg. Pathogenicity of the mutation was demonstrated in vitro. Male children with an idiopathic combined GH, PRL, and TSH deficiency, showing persistent central hypothyroidism but transient GH deficiency upon retesting at adult height, should be screened for mutations in the IGSF1 gene, especially when macro-orchidism and/or hypoprolactinemia are present. We suspect that delayed adrenarche, as a consequence of PRL deficiency, might be part of the clinical phenotype of patients with IGSF1 deficiency. PMID:26757742

  8. LH Dynamics in Overweight Girls with Premature Adrenarche and Slowly Progressive Sexual Precocity

    Rosenfield RobertL


    Full Text Available Background. Excess adiposity and premature adrenarche (PA are risk factors for the development of polycystic ovary syndrome (PCOS. Methods. Girls with slowly progressive precocious breast development, who were overweight and had PA (SPPOPA, 6.2–8.2 years, , overweight PA (6.6–10.8 years, , and overweight premenarcheal controls (OW-PUB, 10.6–12.8 years, underwent hormonal sleep testing and GnRH agonist (GnRHag and ACTH tests. Results. Despite an insignificant sleep-related increase in LH and prepubertal baseline hormone levels, SPPOPA peak LH and estradiol responses to GnRHag were intermediate between those of PA and OW-PUB, the LH being significantly different from both. Conclusions. GnRHag tests indicate that SPPOPA is a slowly progressive form of true puberty with blunted LH dynamics. These results argue against the prepubertal hyperandrogenism of excess adiposity or PA enhancing LH secretion or causing ovarian hyperandrogenism prior to menarche. Excess adiposity may contribute to both the early onset and slow progression of puberty.

  9. Circulating TNF-alpha and IL-6 concentrations and TNF-alpha -308 G>A polymorphism in children with premature adrenarche

    Pauliina eUtriainen


    Full Text Available Premature adrenarche (PA, the early rise in adrenal androgen production leading to prepubertal signs of androgen action, has been connected with adverse metabolic features. The metabolic syndrome is characterized by low grade inflammation which in turn is associated with increases in circulating proinflammatory cytokines, like tumor necrosis factor alpha (TNF-α and interleukin-6 (IL-6. We tested the hypothesis that serum concentrations of TNF-α and IL-6 are increased in PA by studing 73 children with PA and 98 age- and gender-matched controls. Serum TNF-α and IL-6 concentrations were measured using a multiplex bead array. The subjects were genotyped for the TNF-α gene -308 G>A polymorphism (known to affect TNF-α gene transcription, and genotype-phenotype associations were studied. The mean serum TNF-α concentration was higher in the PA than control children (20.4 vs. 18.4 pg/ml, P=0.048, whereas there was no significant difference in the mean serum IL-6 concentrations between the study groups. The difference in TNF-α was not explained by excess body weight in the PA subjects as the difference remained significant after BMI-adjustment (P=0.038. In the PA group, TNF-α concentration was not associated with metabolic-endocrine features, but high IL-6 was associated with lower birth weight. There was no difference in the genotype distribution of the TNF-α gene -308 G>A polymorphism between the PA and control groups. In conclusion, PA was associated with increased serum TNF-α concentrations which, unexpectedly, were not connected with BMI or insulin resistance. The TNF-α gene -308 G>A polymorphism does not seem to be associated with the development of PA.

  10. Effects of gonadotropin-releasing hormone analogue treatment on adrenarche in girls with idiopathic central precocious puberty%GnRHa治疗对特发性中枢性性早熟女童肾上腺功能初现的影响

    苏喆; 杜敏联; 李燕虹; 马华梅; 陈红珊; 陈秋莉; 古玉芬


    目的 通过随访特发性中枢性性早熟(ICPP)女童经促性腺激素释放激素类似物(GnRHa)治疗前、后阴毛发育情况和血硫酸脱氧表雄酮(DHEAS)水平,探讨肾上腺功能初现与性腺轴发育的关系.方法 对确诊为ICPP且按年龄判断血DHEAS的z分值超过正常上限(+2 s)的49例女童在GnRHa治疗前后每3-6个月行性征检查,治疗后每年检测血DHEAS.平均随访(4.08+0.83)年,其中16例随访至停药后1年.结果 治疗前阴毛发育2期(PH2)和阴毛发育3期(PH3)的达到年龄均小于正常[(8.07对11.16)岁,(8.82对12.40)岁],ICPP女童GnRHa受治期间阴毛发育进程显著慢于正常对照[PH2-PH3:(1.69对0.83)年;PH3-阴毛发育4期(PH4):(1.64对0.60)年];同时也长于治疗前的自然进程[PH2-PH3:(1.69对0.88)年].乳房开始发育至阴毛萌出的间期亦然,ICPP治疗前后和正常对照分别为1.13、3.62和0.76年.在GnRHa治疗期间ICPP女童每年DHEAS Z分值呈逐年递减,停药后又显增.结论 大于6岁的性腺轴初现提前可诱致肾上腺功能初现提前,而GnRHa治疗在抑制性腺轴的同时也能延缓肾上腺功能发育的进程.%Objective To explore the relationship between adrenarche and gonadarche.Methods Total 49 idiopathic central precocious puberty(ICPP)girls,whose serum dehydroepiandrosterone sulfate(DHEAS)Z scores for chronological age were higher than+2 s at diagnosis.were enrolled.Physical examinations during pubertal stage were repeated at 3-6 months intervals,and serum DHEAS levels were monitored yearly within an average period of 4.08 years.Of them,16 girls were followed up until more than one year after discontinuation of gonadotropin-releasing hormone analogue(GnRHa)treatment.Results Before GnRHa treatment,these49 girls presented a younger average age at attainment of pubic hair stage2(PH2)and pubic hair stage3(PH3)than normal(8.07 years vs 11.16 years,8.82 years vs 12.40 years respectively).During GnRHa treatment,the intervals between

  11. Serum hormone levels and anthropometric characteristics in girls with hyperandrogenism

    Žukauskaitė, Sonata; Audronė Šeibokaitė,; Liudvikas Lašas,; Danutė Lašienė,; Bronislava Urbonaitė,; Kiesylytė, Jūratė


    Polycystic ovary syndrome is considered to originate during puberty. The aim of this study was to investigate hormonal status in relationship to anthropometric data in girls with premature adrenarche and adolescent girls with hyperandrogenism, as these conditions are related to polycystic ovary syndrome in adulthood. Materials and methods. 20 girls with premature adrenarche (aged 4.9–10.2 years), 21 postmenarcheal girls with hirsutism (aged 13.3–17.8 years), 2 groups (n=13 in each) of hea...

  12. Primary infertility in a phenotypic male with 46XX chromosomal constitution.

    Tan, T. T.; Khalid, B A


    The case of a 32 year old male with normal male adrenarchal hair pattern, bilateral gynaecomastia, a small phallus, hypospadias and bilateral poorly developed testes presenting with primary infertility secondary to azoospermia and a pelvic cyst is described. Repeated chromosomal analysis showed 46XX chromosomal constitution. Laparotomy revealed a simple cyst between the urinary bladder and the rectum. XX male syndrome is a rare cause of male infertility. The majority of cases is due to interc...

  13. Endocrine evaluation of reproductive function in girls during infancy, childhood and adolescence

    Juul, Anders; Hagen, Casper P; Aksglaede, Lise;


    a spectrum of disorders such as premature thelarche, premature adrenarche, central and peripheral precocious puberty, adolescent polycystic ovarian syndrome, functional ovarian hyperandrogenism, late-onset congenital adrenal hyperplasia, primary and secondary amenorrhea, and premature ovarian insufficiency....... Diagnosis of these reproductive disorders includes biochemical as well as clinical evaluation. The biochemical evaluation of reproductive function includes measurement of basal reproductive hormone levels and dynamic pituitary or adrenal hormone testing. Correct interpretation of such test results requires...

  14. Prenatal and Peripubertal Phthalates and Bisphenol-A in Relation to Sex Hormones and Puberty in Boys

    Ferguson, Kelly K.; Peterson, Karen E.; Lee, Joyce M.; Mercado-García, Adriana; Goldenberg, Clara B.; Téllez-Rojo, Martha M.; Meeker, John D


    Phthalates and BPA are known endocrine disruptors and exposure in pregnant mothers and children is ubiquitous. We explored the relationship of prenatal and childhood exposures with pubertal onset and sex hormones in boys (ages 8–14). Phthalate metabolites and BPA were measured in maternal 3rd trimester or childhood urine. Sex hormones DHEAS, estradiol, inhibin B, SHBG, and total testosterone were measured in serum. Adrenarche and puberty were assessed by pediatrician. Prenatal exposure to som...


    Malleswari; Madhavi; Ravi Kumar; Manohar; Sasi Kumar; Sailaja


    The pattern of development from the childhood to womanhood is of an orderly nature and is to some extent influenced by many external and internal influences. 1 The first of the development order is the Thelarche (a) the development of breast, which is unique to the girl child. Adrenarche (a) Puberche and the actual development of menstrual cycle is menarche, all these phases are result of many of the hormonal and metabolic chan...

  16. Pubertal outcome in a female with virilizing adrenocortical carcinoma.

    Breidbart, Emily; Cameo, Tamara; Garvin, James H; Hibshoosh, Hanina; Oberfield, Sharon E


    Adrenocortical tumors are neoplasms that rarely occur in pediatric patients. Adrenocortical carcinoma (ACC) is even more uncommon, and is an aggressive malignancy with 5-year survival of 55% in a registry series. There is a lack of information on long-term endocrine outcome in survivors. We describe a 10-year follow-up in a patient who presented at 3 years 5 months with a 1-year history of axillary odor and 6 months' history of pubic hair development with an increased clitoral size. Androgen levels were increased and a pelvic sonogram revealed a suprarenal mass of the left kidney. The tumor was successfully removed. At 6 years 11 months, androgen levels increased again. Workup for tumor recurrence was negative and the findings likely represented early adrenarche. The patient had menarche at an appropriate time and attained a height appropriate for her family. PMID:26812773

  17. [Clinical thinking and decision making in practice. A 7-year old boy with rapid growth and pubic hair].

    Berents-Oosterhof, M Y; Noordam, C; Otten, B J


    A 7-year-old boy was tall, with a developing penis and initial growth of pubic hair. Due to the accelerated growth there was no premature adrenarche and due to the increased testicular volume there must have been a central cause for the production of androgens. Further specific investigations revealed an astrocytoma of the hypothalamus. After radiotherapy, the tumour exhibited no growth. The pubertal development was inhibited and the growth later stimulated by means of medication. In the case of pubertas praecox the growth chart and pubertal stages including testicular volume can help to differentiate between central and peripheral precocious puberty, narrow the diagnostic evaluation and reduce the time of the initial therapy. PMID:11151653

  18. Características clínicas, endocrinas y metabólicas de una población argentina de niñas con pubarca prematura Clinical, hormonal and metabolic findings in argentinean girls with premature pubarche

    M.E. Escobar


    Full Text Available La pubarca prematura se ha asociado con alteraciones hormonales y metabólicas. Se estudiaron 40 niñas con pubarca prematura de 7,23 ± 0,29 años (media ± ESM. Se evaluó grado de desarrollo, talla, edad ósea, IMC y peso al nacimiento (PN. Se dosaron andrógenos, gonadotrofinas, lípidos, glucemia e insulina, HOMA e índice glucemia/insulina (G/I y se compararon con un grupo control normal de 25 niñas. Las pacientes se dividieron según el nivel de sulfato de dehidroepiandrosterona (SDHEA en dos grupos, Pre A (Pre adrenarca, Precocious pubarche in girls is caused by premature adrenarche in most cases. Less frequently it occurs in absence of biochemical markers of adrenarche being ascribed to increased target tissue sensitivity. Premature pubarche with pronounced adrenarche has been associated with insulin resistance and dyslipemia, especially in girls with history of low birth weight. Most studies have been conducted in hispanic and affrican-american patients. We studied a total of 40 argentinean girls with isolated premature pubarche, aged 7.23 ± 0.29 years (mean ± SEM at the moment of diagnosis. Grade of sexual development, height, weight, BMI and birth weight (BW were recorded. Dehidroepiandrosterone sulphate (DHEAS, androstenedione (A, testosterone (T, 17OH progesterone (17 OHP, SHBG, LH, FSH, PRL and estradiol were measured. Total cholesterol (TC, LDL cholesterol (LDL- C, triglycerides (TGC, glucose, insulin, HOMA and fasting glucose/ insulin index (G/I were evaluated and compared with those in a control group of 25 normal girls. Patients were divided into two groups: Pre A (Pre adrenarche, with DHEAS 400 ng/ml. Post A girls had higher chronological age, bone age advancement and grade of pubic hair development than Pre A girls. No difference was found regarding BMI or BW. Besides higher DHEAS levels, Post A girls showed elevated A and 17OHP levels than Pre A girls (86 ± 8 vs 35 ± 4 ng/dl, p<0. 0001 and 1.1 ± 0.09 vs 0.75 ± 0

  19. The developmental relationship between DHEA and visual attention is mediated by structural plasticity of cortico-amygdalar networks.

    Nguyen, Tuong-Vi; Gower, Patricia; Albaugh, Matthew D; Botteron, Kelly N; Hudziak, James J; Fonov, Vladimir S; Collins, Louis; Ducharme, Simon; McCracken, James T


    Humans and the great apes are the only species demonstrated to exhibit adrenarche, a key developmental event leading to increased production of dehydroepiandrosterone (DHEA), suggesting that this hormone may play an important evolutionary role. Similarly, visual attention networks have been shown to evolve in a human-specific manner, with some anatomical connections and elements of cortical organization exclusive to our species. Existing studies of human brain development support the notion that DHEA shows significant uptake in cortical structures and the amygdala, and as such, could be involved in the bottom-up regulation of visual attention. Here we examined associations between DHEA, structural covariance of the amygdala with whole-brain cortical thickness, and tests of visual attention, in a longitudinal sample of typically developing children and adolescents 6-22 years of age. We found that DHEA predicted covariance between amygdalar volume and the left occipital pole, right somatosensory parietal cortex and right anterior cingulate cortex. Amygdala-occipital covariance predicted visual awareness; amygdala-parietal covariance predicted visuo-motor dexterity and processing speed; amygdala-prefrontal covariance predicted global attentional impairment. Further, effects of DHEA were above and beyond those of age and sex, as well as distinct from those of pubertal stage, estradiol and testosterone. These findings support the notion that DHEA may play a unique role in shaping amygdala-dependent cortical plasticity and in regulating 'bottom-up' visual attention processes from childhood to young adulthood. PMID:27236606

  20. Recent advances in the management of sexual precocity in girls.

    Schriock, E A; Martin, M C


    Sexual precocity has important psychosocial implications for the prematurely developing child, as well as being associated in some cases with significant pathology. Conscientious evaluation and initiation of effective therapy can have a significant impact on improving long-term outcome. The differentiation between complete sexual precocity with activation of the hypothalamic-pituitary axis and incomplete sexual precocity without activation of the central reproductive system is of paramount importance. In incomplete sexual precocity, the sex steroids are of exogenous, adrenal, or gonadal origin. Premature adrenarche presents with the early development of pubic hair only and must be distinguished from adrenal hyperplasia or an androgen-secreting neoplasm, which may be associated with accelerated growth, advanced bone age, and virilization. When incomplete sexual precocity involves the ovary, ovarian tumors must be considered. Other causes of incomplete sexual precocity include hypothyroidism and gonadotropin-independent precocity such as McCune-Albright syndrome. Complete sexual precocity or precocious puberty of central origin is diagnosed in girls by gonadotropin-releasing hormone challenge yielding a stimulated luteinizing hormone peak greater than 15 IU/L. Radiologic evaluation of the central axis is necessary. Treatment of precocious puberty relies on the use of potent agonists of gonadotropin-releasing hormone that reversibly suppress the prematurely activated pituitary. Depot preparations are efficacious. Early initiation and careful monitoring of treatment can reduce physical signs of development, improve the likelihood for normal adult height, and postpone normal pubertal progression to a more appropriate age. PMID:1818719

  1. Evaluation and Referral of Children With Signs of Early Puberty.

    Kaplowitz, Paul; Bloch, Clifford


    Concerns about possible early pubertal development are a common cause for referral to pediatric medical subspecialists. Several recent studies have suggested that onset of breast and/or pubic hair development may be occurring earlier than in the past. Although there is a chance of finding pathology in girls with signs of puberty before 8 years of age and in boys before 9 years of age, the vast majority of these children with signs of apparent puberty have variations of normal growth and physical development and do not require laboratory testing, bone age radiographs, or intervention. The most common of these signs of early puberty are premature adrenarche (early onset of pubic hair and/or body odor), premature thelarche (nonprogressive breast development, usually occurring before 2 years of age), and lipomastia, in which girls have apparent breast development which, on careful palpation, is determined to be adipose tissue. Indicators that the signs of sexual maturation may represent true, central precocious puberty include progressive breast development over a 4- to 6-month period of observation or progressive penis and testicular enlargement, especially if accompanied by rapid linear growth. Children exhibiting these true indicators of early puberty need prompt evaluation by the appropriate pediatric medical subspecialist. Therapy with a gonadotropin-releasing hormone agonist may be indicated, as discussed in this report. PMID:26668298

  2. Pyocolpos at puberty: a very rare entity

    Sandhya Subhash Gadre


    Full Text Available This is a case report of a 12 year girl who reported with a H/O incomplete bladder evacuation and burning in micturition since one month, urinary incontinence once only. She had no abdominal pain or fever and had not attained menarche. The stature was short, thelarche attained 4 months back. No bulge in abdomen. Other general examination features normal. Urine examination was normal. USG suggested hematocolpos with imperforate hymen. On this basis local examination was done. Imperforate hymen with otherwise normal external genitalia found. Pubic and axillary hair absent. Preoperative diagnosis was imperforate hymen and hematocolpos with ? androgen insensitivity syndrome. She could not afford serum DHEAS levels. With this diagnosis it was worrisome to think that patient had attained menarche (cryptomenorrhoea with androgen insensitivity as pubic and axillary hair had not appeared even after the presumed menarche, which should have appeared well before menarche. Her short stature was also not expected to change after menarche. Hymenotomy under GA done, 490 ml of mucopurulent discharge was drained. Postoperative period uneventful. Now she is expected to have a growthspurt, adrenarche and menarche. In prepubertal girls with urinary complains, the possibility of imperforate hymen with hematocolpos/pyocolpos should be considered as differential diagnosis. Incorporating an examination of external genitalia into routine practice of clinicians caring for children can prevent the significant delay in the diagnosis of imperforate hymen. [Int J Reprod Contracept Obstet Gynecol 2014; 3(4.000: 1138-1141

  3. Juvenility in the context of life history theory.

    Hochberg, Z


    Homo sapiens is unique in having four prolonged and pronounced postnatal pre-adult life history stages: infancy, which lasts for 30-36 months and ends with weaning from breast feeding in traditional societies; childhood, which lasts for an additional 2-4 years and concludes in a degree of independence as regards protection and food provision; a juvenile stage of 3-4 years that terminates with readiness for sexual maturation; and adolescence, which lasts for 3-5 years and culminates in fertility. Juvenility implies two transitional periods which are only experienced by humans: a transition from childhood to juvenility and from juvenility to adolescence. Juvenility, "the age of reason and responsibility" and concrete operation, coincides with elementary school age and offers opportunities to prepare for the social complexity of adolescence. Here I define the transition to juvenility by three variables: adrenarche (the onset of adrenal androgen generation), growth pattern (decelerating from a linear childhood growth velocity) and adiposity rebound acceleration of body mass index. The data presented suggest that this period is endowed with programming/predictive adaptive responses of body composition to the environment. PMID:18337281

  4. Third case of 8q23.3-q24.13 deletion in a patient with Langer-Giedion syndrome phenotype without TRPS1 gene deletion.

    Pereza, Nina; Severinski, Srećko; Ostojić, Saša; Volk, Marija; Maver, Aleš; Dekanić, Kristina Baraba; Kapović, Miljenko; Peterlin, Borut


    Langer-Giedion syndrome (LGS) is a contiguous gene syndrome caused by a hemizygous deletion on chromosome 8q23.3-q24.11 involving TRPS1 and EXT1 genes. We report on a girl with LGS phenotype and a 7.5 Mb interstitial deletion at chromosome 8q23.3-q24.13. Array-comparative genomic hybridization (a-CGH) revealed a deletion encompassing only the EXT1 and not the TRPS1 gene. Even though the deletion of TRPS1 and EXT1 genes is responsible for craniofacial and skeletal features of LGS, there have been previous reports of patients with LGS phenotype and 8q24 deletions leaving the TRPS1 gene intact. To our knowledge, this is the third such case. Our patient differs from previously reported LGS patients without TRPS1 gene deletion in that she has the typical LGS facial dysmorphism and skeletal abnormalities. However, the girl is of normal height and has only a mild developmental delay. Additionally, she has dyslalia and premature adrenarche classified as Tanner stage 3 premature pubarche which have not yet been described as features of LGS. We examine the molecular breakpoints and phenotypes of our patient and previously reported cases. PMID:22315192

  5. Adolescent HIV/AIDS: Issues and challenges

    Naswa Smriti


    Full Text Available Adolescence (10- 19 years is a phase of physical growth and development accompanied by sexual maturation, often leading to intimate relationships. Adolescent HIV/AIDS is a separate epidemic and needs to be handled and managed separately from adult HIV. The adolescents can be subdivided into student, slum and street youth; street adolescents being most vulnerable to HIV/AIDS. Among various risk factors and situations for adolescents contracting HIV virus are adolescent sex workers, child trafficking, child labor, migrant population, childhood sexual abuse, coercive sex with an older person and biologic (immature reproductive tract as well as psychological vulnerability. The most common mode of transmission is heterosexual, yet increasing number of perinatally infected children are entering adolescence. This is due to "bimodal progression" (rapid and slow progressors among the vertically infected children. Clinically, the HIV infected adolescents present as physically stunted individuals, with delayed puberty and adrenarche. Mental illness and substance abuse are important co-morbidities. The disclosure and declaration of HIV status to self and family is challenging and guilt in sexually infected adolescents and tendency to blame parents if vertically affected need special consideration and proper counseling. Serodiscordance of the twins and difference in disease progression of seroconcordant twins are added causes of emotional trauma. Treatment related issues revolve around the when and what of initiation of ART; the choice of antiretrovirals and their dosages; issues related to long term ADRs; sense of disinhibition following ART commencement; adherence and resistance.

  6. Hair loss in women.

    Camacho-Martínez, Francisco M


    Female pattern hair loss (FPHL) is a clinical problem that is becoming more common in women. Female alopecia with androgen increase is called female androgenetic alopecia (FAGA) and without androgen increase is called female pattern hair loss. The clinical picture of typical FAGA begins with a specific "diffuse loss of hair from the parietal or frontovertical areas with an intact frontal hairline." Ludwig called this process "rarefaction." In Ludwig's classification of hair loss in women, progressive type of FAGA, 3 patterns were described: grade I or minimal, grade II or moderate, and grade III or severe. Ludwig also described female androgenetic alopecia with male pattern (FAGA.M) that should be subclassified according to Ebling's or Hamilton-Norwood's classification. FAGA.M may be present in 4 conditions: persistent adrenarche syndrome, alopecia caused by an adrenal or an ovarian tumor, posthysterectomy, and as an involutive alopecia. A more recent classification (Olsen's classification of FPHL) proposes 2 types: early- and late-onset with or without excess of androgens in each. The diagnosis of FPHL is made by clinical history, clinical examination, wash test, dermoscopy, trichoscan, trichograms and laboratory test, especially androgenic determinations. Topical treatment of FPHL is with minoxidil, 2-5% twice daily. When FPHL is associated with high levels of androgens, systemic antiandrogenic therapy is needed. Persistent adrenarche syndrome (adrenal SAHA) and alopecia of adrenal hyperandrogenism is treated with adrenal suppression and antiandrogens. Adrenal suppression is achieved with glucocorticosteroids. Antiandrogens therapy includes cyproterone acetate, drospirenone, spironolactone, flutamide, and finasteride. Excess release of ovarian androgens (ovarian SAHA) and alopecia of ovarian hyperandrogenism is treated with ovarian suppression and antiandrogens. Ovarian suppression includes the use of contraceptives containing an estrogen, ethinylestradiol, and a

  7. Phenotypic variability of hyperandrogenemia in females heterozygous for CYP21A2 mutations

    Vassos Neocleous


    Full Text Available Objectives: The objective was to seek evidence on the prevalence and consequences of heterozygous CYP21A2 mutations in girls, adolescent, and adult females with clinical manifestation of androgen excess. Patients and Methods: The study included 64 girls diagnosed with premature adrenarche (PA in childhood and 141 females with clinical hyperandrogenemia manifested in adolescence or adulthood. Direct DNA sequencing and multiplex ligation-dependent probe amplification analysis were used to identify mutations in the CYP21A2 gene. Results: (1 Thirty-four patients were diagnosed with nonclassical-congenital adrenal hyperplasia (NC-CAH based on the 17-hydroxyprogesterone (17-OHP levels and the presence of two mutations in CYP21A2 and therefore were excluded from the study, 66 were found to be heterozygotes and finally 105 had no identifiable mutations. The most frequent mutations among the carriers were the mild p.Val281 Leu and p.Qln318stop. Higher levels of mean stimulated 17-OHP were found in the carriers of the p.Val281 Leu. (2 A notable increased allelic frequency for the known p.Asn493 Ser polymorphism was observed in the pool of females with hyperandrogenemia in whom no mutation was identified. (3 In girls, who presented early with PA, 26.6% were diagnosed with NC-CAH and carried two mutations, 28.7% were identified as heterozygotes 43.7% had no identifiable genetic defect in the translated region of the CYP21A2 gene. On the contrary, in the group of 141 females with late onset hyperandrogenemia, the presence of 2 mutations was detected in 12%, 1 mutation in 33.4% and no mutation in 54.6%. Conclusions: The carrier status for 21-OHD, may be an important factor in the variable phenotype of hyperandrogenism and may be a contributing factor for the early manifestation of the disease.

  8. Etiology of precocious puberty, 10 years study in Endocrine Reserch Centre (Firouzgar, Tehran

    Fatemeh Safari


    Full Text Available Background: Precocious puberty, as early physical development and low final height might lead to psychosocial problems.Objective: To evaluate etiology and clinical feature of precocious puberty in a cohort of Iranian children.Materials and Methods: In this case-series study, 44 girls and 8 boys with precocious puberty referred to Endocrine Reserch Centre (Firouzgar, Institute of Endocrinology and Metabolism (Hemmat Campus, were examined in a 10 years period of time. Results: Mean age of girls and boys was 7.43±1.4 years and 5.8±2.1 years respectively. Most of the patients fell within the age category of 7-7.9 years old (40.9% for girls and 50% for boys. Patients, concerning etiology of precocious puberty were classified in three categories: 42.6% of patients had central precocious puberty (CPP, including idiopathic CPP (87.5% and neurogenic CPP (12.5%. 23.3% of patients had peripheral precocious puberty (PPP, including congenital adrenal hyperplasia (CAH (42.8%, ovarian cysts (28.4%, McCune-Albright syndrome (14.2% and adrenal carcinoma (14.2%. 34.1% of girls and 25% of boys had normal variant puberty including premature thelarche (57%, premature adrenarche (38% as well as premature menarche (4.7%l. Conclusion: The most common etiology of precocious puberty in girls was idiopathic central precocious puberty and premature thelarche, while in boys they were neurogenic central precocious puberty and CAH. Therefore precocious puberty in girls is usually benign. In boys, CNS anomalies should first be considered in the differential diagnosis of CPP. Therefore brain Magnetic Resonance Imaging (MRI is mandatory in all cases.




    Full Text Available The pattern of development from the childhood to womanhood is of an orderly nature and is to some extent influenced by many external and internal influences. 1 The first of the development order is the Thelarche (a the development of breast, which is unique to the girl child. Adrenarche (a Puberche and the actual development of menstrual cycle is menarche, all these phases are result of many of the hormonal and metabolic changes in the girl child. 1 AIMS: To compare “sexual maturity standards” of urban and rural girls. To know the impact of socio - economic status on sexual maturity rate. MATERIAL AND METHODS : present study is a cross sectional one - point study of 5 00 girls aged between 8 and 17 years . The cohort constituted girls from non - residential primary and secondary schools in and around Tirupati belonging to different cultures and socio - economic status (SES. RESULTS : The mean age of complete breast developme nt is 15.53 ± 1.19 in urban girls and 15.61 ± 1.08 in rural girls. M ean age of axillary hair development in urban girls is 14.89 ± 1.29 and 14.40 ± 1.54 in rural girls In UMSEC the percentage of pubic hair development was 75.01% and 100% at 12 years and 13 years o f age respectively. LSEC the percentage of breast development was 36.84%, 76.92% and 100% at 12, 13 and 14 age groups respectively

  10. Impact of early postnatal androgen exposure on voice development.

    Leila Grisa

    Full Text Available BACKGROUND: The impact of early postnatal androgen exposure on female laryngeal tissue may depend on certain characteristics of this exposure. We assessed the impact of the dose, duration, and timing of early androgen exposure on the vocal development of female subjects who had been treated for adrenocortical tumor (ACT in childhood. METHODS: The long-term effects of androgen exposure on the fundamental vocal frequency (F0, vocal pitch, and final height and the presence of virilizing signs were examined in 9 adult (age, 18.4 to 33.5 years and 10 adolescent (13.6 to 17.8 years female ACT patients. We also compared the current values with values obtained 0.9 years to 7.4 years after these subjects had undergone ACT surgery, a period during which they had shown normal androgen levels. RESULTS: Of the 19 subjects, 17 (89% had been diagnosed with ACT before 4 years of age, 1 (5% at 8.16 years, and 1 (5% at 10.75 years. Androgen exposure (2 to 30 months was sufficiently strong to cause pubic hair growth in all subjects and clitoromegaly in 74% (14/19 of the subjects, but did not reduce their height from the target value. Although androgen exposure induced a remarkable reduction in F0 (132 Hz and moderate pitch virilization in 1 subject and partial F0 virilization, resulting in F0 of 165 and 169 Hz, in 2 subjects, the majority had normal F0 ranging from 189 to 245 Hz. CONCLUSIONS: Female laryngeal tissue is less sensitive to androgen exposure between birth and adrenarche than during other periods. Differential larynx sensitivity to androgen exposure in childhood and F0 irreversibility in adulthood are age-, concentration-, duration-, and timing-dependent events that may also be affected by exposure to inhibitory or stimulatory hormones. Further studies are required to better characterize each of these factors.

  11. Development of the human adrenal zona reticularis: morphometric and immunohistochemical studies from birth to adolescence.

    Hui, Xiao-Gang; Akahira, Jun-ichi; Suzuki, Takashi; Nio, Masaki; Nakamura, Yasuhiro; Suzuki, Hiroyoshi; Rainey, William E; Sasano, Hironobu


    Age-related morphologic development of human adrenal zona reticularis (ZR) has not been well examined. Therefore, in this study, 44 human young adrenal autopsy specimens retrieved from large archival files (n=252) were examined for immunohistochemical and morphometric analyses. Results demonstrated that ZR became discernible around 4 years of age, and both thickness and ratio per total cortex of ZR increased in an age-dependent fashion thereafter, although there was no significant increment in total thickness of developing adrenal cortex. We further evaluated immunoreactivity of both KI67 and BCL2 in order to clarify the equilibrium between cell proliferation and apoptosis in the homeostasis of developing human adrenals. Results demonstrated that proliferative adrenocortical cells were predominantly detected in the zona glomerulosa and partly in outer zona fasciculata (ZF) before 4 years of age and in ZR after 4 years of age, but the number of these cells markedly decreased around 20 years of age. The number of BCL2-positive cells increased in ZR and decreased in ZF during development. Adrenal androgen synthesizing type 5 17beta-hydroxysteroid dehydrogenase (HSD17B5 or AKR1C3 as listed in the Hugo Database) was almost confined to ZR of human adrenals throughout development. HSD17B5 immunoreactivity in ZR became discernible and increased from around 9 years of age. Results of our present study support the theory of age-dependent adrenocortical cell migration and also indicated that ZR development is not only associated with adrenarche, but may play important roles in an initiation of puberty. PMID:19723922

  12. 青春期前痤疮的研究进展%Prepubertal acne

    王琪; 张国毅; 尹跃平


    青春期前痤疮是儿童期痤疮的一种,多发生于7岁以后青春期体征出现以前,表现为以粉刺样损害为主的皮损.其发病主要与青春期发育初期肾上腺功能初现引起的雄激素分泌增高有关,痤疮丙酸杆菌感染及高雄激素血症在痤疮发病中也有重要作用.青春期前痤疮的严重程度影响青春期痤疮的发展,在诊疗时需仔细询问病史及家族史.并做相应的实验室检查以排除其他疾病影响引起高雄激素血症性痤疮.在治疗时根据患儿年龄、皮损数量选择合适的治疗方法,治疗方案尽量简单.%Prepubertal acne,a kind of childhood acne,usually occurs from 7 years of age to the emergence of puberty signs in children.Comedo-like lesions are the main presentation of prepubertal acne.Its pathogenesis is mainly associated with increased secretion of androgen caused by adrenarche in early puberty.Furthermore,Propionibacterium acne infection and hyperandrogenism also play important roles in the occurrence of acne.The severity of prepubertal acne can affect the development of acne,thus careful inquiry of medical history and family history is suggested for the diagnosis and treatment of acne.Also,relevant laboratory examinations are needed to exclude hyperandrogenism-associated acne caused by other diseases.Therapeutic strategies should be selected according to patients' age and the number of skin lesions,and be as simple as possible.

  13. The feto-placental unit, and potential roles of dehydroepiandrosterone (DHEA) in prenatal and postnatal brain development: A re-examination using the spiny mouse.

    Quinn, Tracey A; Ratnayake, Udani; Dickinson, Hayley; Castillo-Melendez, Margie; Walker, David W


    Synthesis of dehydroepiandrosterone (DHEA) by the fetal adrenal gland is important for placental oestrogen production, and may also be important for modulating the effects of glucocorticoids on the developing brain. We have preciously shown that the enzymes and accessory proteins needed for DHEA synthesis-cytochrome P450 enzyme 17α-hydroxylase/17,20 lyase (P450c17), cytochrome-b5 (Cytb5), 3β-hydroxysteroid dehydrogenase (3βHSD)-are expressed in the adrenal gland from 30 days gestation, and DHEA, cortisol and aldosterone are present in fetal plasma from this time. Explant culture of fetal adrenal tissue showed that the spiny mouse adrenal gland, can synthesize and secrete DHEA from at least 0.75 of gestation, and suggest that DHEA may have an important role(s) in placental biosynthesis of oestrogens and in modulating the actions of glucocorticoids in the developing brain in this species. Post-natally, increased immuno-expression of P450c17 and Cytb5 expression in the zona reticularis of the adrenal gland and a significant increase in the synthesis and secretion of DHEA in plasma from 8 to 20 days of age in the spiny mouse, are representative of a period of high adrenal androgen production consistent with the human phenomenon of adrenarche. The studies summarised in this review also show that DHEA is produced de novo in the developing brain of the spiny mouse. These results showed that the spiny mouse brain can indeed produce DHEA from pregnenolone in a time-dependant manner, and coupled with the identification of P450c17 and Cytb5 protein in several regions of the brain, support the idea that DHEA is an endogenous neuro-active steroid in this species. Together, the studies outlined in this review indicate that the androgen DHEA is an important hormone of adrenal and Central Nervous System (CNS) origin in the fetal and postnatal spiny mouse. Disturbance of the development of these fetal tissues, and/or of the relationship between the fetal adrenal gland and

  14. Presentation of 493 consecutive girls with idiopathic central precocious puberty: a single-center study.

    Eloïse Giabicani

    Full Text Available BACKGROUND: Despite the number of reported data concerning idiopathic central precocious puberty (CPP in girls, major questions remain including its diagnosis, factors, and indications of gonadotropin releasing hormone (GnRH analog treatment. METHODS: A retrospective, single-center study was carried out on 493 girls with CPP. RESULTS: Eleven girls (2.2% were aged less than 3 years. Breast development was either isolated (Group 0, n = 99, or associated with one sign, pubic hair development, growth rate greater than 2 standard deviation score (SDS or bone age (BA >2 years above chronological age, (Group 1, n = 187, two signs (Group 2, n = 142 or three signs (Group 3, n = 65. The interval between onset of puberty and evaluation, body mass index (BMI SDS, plasma luteinising hormone (LH concentrations (basal and peak and LH/ follicle-stimulating hormone (FSH peak ratio after GnRH test, plasma estradiol and uterus length were significantly greater in Groups 2 and 3 than in Groups 0 and 1 respectively. 211 (42.8% patients were obese and/or had excessive weight gain during the year before puberty. Obese girls more often had BA advance of >2 years (p = 0.0004 and pubic hair development (p = 0.003 than the others. BMI did not correlate with LH or with LH/FSH peak ratio. Girls with familial history of early puberty (41.4% had greater frequencies of pubertal LH/FSH peak ratios (p = 0.02 than the others. During the 31 years of the study, there was no increase in the frequency of CPP or variation in its characteristics. CONCLUSION: Obesity is associated with a higher BA advance and higher frequency of pubic or axillary hair development but not with LH secretion, suggesting that obesity accelerates adrenarche but not the maturation of the hypothalamic-pituitary-ovarian axis. The LH/FSH peak ratio was more frequently pubertal in girls with a familial history of early puberty, suggesting that this maturation depends on genetic factors.

  15. Precocious puberty: clinical and endocrine profile and factors indicating neurogenic precocity in Indian children.

    Bajpai, Anurag; Sharma, Jyoti; Kabra, Madhulika; Kumar Gupta, Arun; Menon, P S N


    The objective of this study was to evaluate the clinical and endocrine profile of patients with precocious puberty followed up in a tertiary care hospital. Records of 140 patients (114 girls, 26 boys) with precocious puberty were reviewed. Clinical features including age of onset, stage of pubertal development, presenting symptoms, features suggestive of CNS involvement and family history were analyzed. Endocrine investigations included basal and GnRH-stimulated levels of LH and FSH as well as 17OHP, DHEA, hCG and thyroid profile. Abdominal and pelvic ultrasonography and CNS imaging were correlated with clinical features. Girls outnumbered boys in this series (4.4:1). Neurogenic central isosexual precocious puberty (CIPP) was more common in boys (10 out of 18, 55.6%) than girls (16 out of 77, 20.8%). The most common cause of neurogenic CIPP was hypothalamic hamartoma present in five girls and four boys. Other causes of neurogenic CIPP included neurotuberculosis, pituitary adenoma, hydrocephalus, post radiotherapy, CNS tumors and malformations. Peripheral precocious puberty (PPP) was secondary to adrenal causes in boys and ovarian cysts in girls. Benign variants of precocious puberty, such as premature thelarche and premature adrenarche, were present in 23 and six girls, respectively. Hypothyroidism was present in four girls and McCune-Albright syndrome in one girl. Girls with neurogenic CIPP had a lower age of onset as compared to idiopathic CIPP (3.6 +/- 2.7 years vs 5.4 +/- 2.5 years, p = 0.014). The lowest age of onset was seen in girls with hypothalamic hamartoma (1.6 +/- 0.9 years). Forty-seven girls with CIPP (seven neurogenic and 40 idiopathic) presented after the age of 6 years. Features of CNS involvement, in the form of seizures, mental retardation, raised intracranial tension or focal neurological deficits, were present in seven girls (43.8%) and four boys (40%), and gelastic seizures were present in three children. Girls with CIPP had greater bone age

  16. 青春期前不同时长脱氢表雄酮暴露对成年雌鼠生殖力的影响%Prepubal hyperandrogen exposure induces reproductive changes in adult female rats

    陈婕; 谈勇


    Objective Androgen is an important precursor for the synthesis of estrogen in vivo and is involved in the regulation of female reproductive function.In this study, we explored the influence of different lengths of prepubertal exposure to hyperandrogen on the reproductive function of adult female rats. Methods Twenty-five 23-day-old female rats were equally randomized into five groups:oil control, 2-wk dehydroepiandrosterone (DHEA), 4-wk DHEA, 6-wk DHEA, and 8-wk DHEA, injected with oil or DHEA daily for 2, 4, 6, and 8 weeks respectively, and mated at 80 days old.We detected serum concentrations of total testosterone (tT), estradiol (E2), follicle-stimulating hormone ( FSH) and luteinizing hormone ( LH) by ELISA, observed the time of vaginal opening and changes of the estrous cycle, and recorded the rates of mating and pregnancy, the number of the offspring and their survival rate. Results The tT lev-el was elevated after 2 weeks of DHEA injection, fell to normal after drug withdrawal in the 2-wk and 4-wk DHEA groups, and remained at a high level in the 6-wk group.The E2 level was markedly increased in at 2 and 4 weeks but showed a falling trend at 6 and 8 weeks. DHEA injection did not change the level of FSH significantly but re-markably lifted that of LH with the increased concentration of tT.The vaginal opening time was significantly advanced in the 2-wk DHEA group as compared with the controls ([26.60 ±0.89] d vs [35.20 ± 2.49] d, P0.05). Conclusion Prepubertal expo-sure to hyperandrogen may advance adrenarche and gonadarche and affect the initiation of the sexual gland function in female rats.Impro-ving the hyperandrogen status in the early pubertal stage can reverse the disorder of the estrous cycle, while long-term exposure to DHEA may significantly reduce the fecundity at the childbearing age.%目的:雄激素是体内合成雌激素的重要前体,参与女性生殖功能的调控。文中探讨了青春期前接受不同时长的高雄激素刺激