Precocious Pubarche: Distinguishing Late-Onset Congenital Adrenal Hyperplasia from Premature Adrenarche

Armengaud, Jean-Baptiste; Charkaluk, Marie‐Laure; Trivin, Christine; Tardy, Véronique; Breart, Gérard; Brauner, Raja; Chalumeau, Martin

doi:10.1210/jc.2009-0314

Cited by 113 publications

(98 citation statements)

References 28 publications

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“…Distinct conditions manifesting PA include milder and nonclassic variants of congenital adrenal hyperplasia (CAH) that have been diagnosed in 0-40% of children with PP (51,(61)(62)(63)(64)(65), depending on the pre-selection bias applied to the studied cohorts. Baseline blood sampling for measurement of DHEAS, androstenedione, 17a-hydroxyprogesterone (17OHP), testosterone, and sex hormone binding globulin (SHBG) will be generally sufficient to confirm increased adrenal androgens and to differentiate between IPA, CAH, and virilising tumours (55,61). Other causes potentially underlying a presentation with PA are summarised in Table 1.…”

Section: Pa: Definitions and Differential Diagnosismentioning

confidence: 99%

Premature adrenarche: novel lessons from early onset androgen excess

Idkowiak

Lavery

Dhir

et al. 2011

European Journal of Endocrinology

110

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Adrenarche reflects the maturation of the adrenal zona reticularis resulting in increased secretion of the adrenal androgen precursor DHEA and its sulphate ester DHEAS. Premature adrenarche (PA) is defined by increased levels of DHEA and DHEAS before the age of 8 years in girls and 9 years in boys and the concurrent presence of signs of androgen action including adult-type body odour, oily skin and hair and pubic hair growth. PA is distinct from precocious puberty, which manifests with the development of secondary sexual characteristics including testicular growth and breast development. Idiopathic PA (IPA) has long been considered an extreme of normal variation, but emerging evidence links IPA to an increased risk of developing the metabolic syndrome (MS) and thus ultimately cardiovascular morbidity. Areas of controversy include the question whether IPA in girls is associated with a higher rate of progression to the polycystic ovary syndrome (PCOS) and whether low birth weight increases the risk of developing IPA. The recent discoveries of two novel monogenic causes of early onset androgen excess, apparent cortisone reductase deficiency and apparent DHEA sulphotransferase deficiency, support the notion that PA may represent a forerunner condition for PCOS. Future research including carefully designed longitudinal studies is required to address the apparent link between early onset androgen excess and the development of insulin resistance and the MS.

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Section: Pa: Definitions and Differential Diagnosismentioning

confidence: 99%

Premature adrenarche: novel lessons from early onset androgen excess

Idkowiak

Lavery

Dhir

et al. 2011

European Journal of Endocrinology

110

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“…the development of pubic hair, axillary hair, and/or increased apocrine odor prior to age 8 years in girls and age 9 years in boys). In one study, 4.2% of 238 French children with premature pubarche were found to have NCAH; 17-OHP, androstenedione, and testosterone concentrations were significantly elevated among the children with NCAH compared to the remainder [49]. In a multicenter study including 220 individuals with NCAH, 92%, 8%, and 4% of patients diagnosed under the age of 10 years, 10-19 years, and 20-29 years, respectively, had a history of premature adrenarche [50].…”

Section: Clinical Featuresmentioning

confidence: 99%

Non-classic congenital adrenal hyperplasia

Witchel

2013

Steroids

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Nonclassic congenital adrenal hyperplasia (NCAH) due to P450c21 (21-hydroxylase deficiency) is a common autosomal recessive disorder. This disorder is due to mutations in the CYP21A2 gene which is located at chromosome 6p21. The clinical features predominantly reflect androgen excess rather than adrenal insufficiency leading to an ascertainment bias favoring diagnosis in females. Treatment goals include normal linear growth velocity and "on-time" puberty in affected children. For adolescent and adult women, treatment goals include regularization of menses, prevention of progression of hirsutism, and fertility. This paper will review key aspects regarding pathophysiology, diagnosis, and treatment of NCAH.

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“…A 1 mg dexamethasone suppression test following overnight fast was also within normal limits, suggesting that the adrenal tumor was non-functioning. Basal blood levels of steroid hormones were in the normal range, and changes of serum levels of 17-hydroxyprogesterone at 1 h after intravenous injection of adrenocorticotropic hormone were 2.1 ng/mL (less than 10 ng/mL), suggesting the absence of 21-hydroxylase deficiency (Armengaud et al 2009) (Table 2). A luteinizing hormone-releasing hormone loading test revealed a delayed response, which is not consistent with that in polycystic ovary syndrome (PCOS) ( Table 1).…”

Section: Case Presentationmentioning

confidence: 99%

Virilism and Ectopic Expression of HSD17B5 in Mature Cystic Teratoma

Kawaguchi

Mizuno

Horikawa

et al. 2017

Tohoku J. Exp. Med.

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Mature cystic teratoma (MCT) is rarely involved in the overproduction of steroid hormones in contrast to sex cord stromal tumors. A 31-year-old woman visited our hospital with hirsutism, hoarseness, and hair loss from the scalp. Serum testosterone and free-testosterone levels were 7.3 ng/ml and 2.3 pg/ml, respectively, which were markedly in excess of the age adjusted female standard levels. Basal blood levels of steroid hormones and serum levels of 17-hydroxyprogesterone at 1 h after intravenous injection of adrenocorticotropic hormone demonstrated that 21-hydroxylase deficiency was not the underlying cause of her virilization. A subsequent chromosomal test with G-banding revealed a karyotype of 46XX. Magnetic resonance imaging revealed a mass in the left ovary, which was subsequently diagnosed as MCT. Detailed pathological analysis of the tumor indicated that it was comprised of skin components, sweat glands, with hair and fat texture, glandular epithelium and fibrous connective tissue, consistent with the characteristic composition of MCT. Immunohistochemical analysis demonstrated marked immunoreactivity of 17beta-hydroxysteroid dehydrogenase (HSD17B5), an enzyme that can convert androstenedione to testosterone. Following surgical removal of the tumor, testosterone and free testosterone levels were markedly decreased (0.3 ng/ml and 0.4 pg/ml, respectively) and other symptoms abated. In conclusion, this is the first report of an ovarian MCT associated with clinical virilization caused by the ectopic production of testosterone possibly because of an overexpression of intratumoral HSD17B5.

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Precocious Pubarche: Distinguishing Late-Onset Congenital Adrenal Hyperplasia from Premature Adrenarche

Abstract: We identified three plasma predictors of LO-CAH in patients presenting with PP. A selective strategy based on a 2-ng/ml basal 17-OHP plasma level threshold would have safely avoided 99% of the unnecessary ACTH tests among our patients.

Cited by 113 publications

References 28 publications

Premature adrenarche: novel lessons from early onset androgen excess

Premature adrenarche: novel lessons from early onset androgen excess

Non-classic congenital adrenal hyperplasia

Virilism and Ectopic Expression of HSD17B5 in Mature Cystic Teratoma

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