Premature pubarche: etiological heterogeneity
Abstract
Premature pubarche is characterized by pubic hair, adult type body odor, acne, and axillary hair before 8 yr of age in girls and 9.5 yr of age in boys. Causes of this premature virilization include premature adrenarche, mild errors of steroidogenesis, precocious puberty, and adrenal and gonadal tumors. To determine whether any clinical parameters are helpful in distinguishing which children should undergo further evaluation for mild congenital adrenal hyperplasia, we performed ACTH stimulation tests in 69 children with premature pubarche and 8 pubertal controls. Patients were categorized as having typical (pubic hair with or without axillary hair and body odor) or atypical (pubic hair and genital enlargement) premature pubarche. Blood samples, before and 30 min after iv bolus administration of synthetic ACTH, were obtained for progesterone, 17-hydroxypregnenolone, 17-hydroxyprogesterone, dehydroepiandrosterone, androstenedione, 11-deoxycortisol, and cortisol measurements. The patients were divided into 4 groups based on their individual responses to ACTH stimulation: premature adrenarche (no apparent defect in steroidogenesis), possible decreased 21-hydroxylase activity, possible decreased 3 beta-hydroxysteroid dehydrogenase activity, and indeterminate responses. Five of 11 (45%) children with atypical premature pubarche and 7 of 58 (12%) children with typical premature pubarche were found to have evidence of mild defects in steroidogenesis. Similar to previous reports in postpubertal women, only responses to ACTH stimulation allowed accurate classification of these patients.
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Previous studies reported advanced bone age maturation in children with premature pubarche due to NCCAH.
“This is in contrast with previous studies reporting advanced BA maturation in children with PP due to NCCAH (20,21).”
From Relationship of CYP21A2 genotype and serum 17-hydroxyprogesterone and cortisol levels in a large cohort of Italian children with premature pubarche (2011) · cites this paper as [20]
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- Authors
- Siegel, S. F.
- Affiliations
- University of Pittsburgh (US)
- Venue
- Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 1992-02-01
- Volume
- 74
- Issue
- 2
- Pages
- 239-247
- ISSN
- 0021-972X (ISSN-L)
- OpenAlex
- W2035258808
- Cited by
- 69
- References
- 0
- Citations by year
- 2022: 1 · 2021: 4 · 2020: 4 · 2018: 1 · 2015: 3 · 2014: 2 · 2012: 2
- FWCI
- 0.80
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Funders
- National Center for Research Resources (MO-1-RR-00084, M01RR000084)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
- Keywords
- premature pubarche, premature adrenarche, congenital adrenal hyperplasia, ACTH stimulation test, 21-hydroxylase deficiency, 3β-hydroxysteroid dehydrogenase deficiency, precocious puberty, adrenal tumors, gonadal tumors, androgen precursors
- MeSH terms
- Adrenal Cortex Diseases, Adrenocorticotropic Hormone, Androstenedione, Child, Cortodoxone, Dehydroepiandrosterone, Female, Genitalia, Female, Genitalia, Male, Hirsutism, Humans, Hydrocortisone, 17-alpha-Hydroxypregnenolone, Hydroxyprogesterones, Male, Progesterone, Reference Values, 17-alpha-Hydroxyprogesterone
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