Adrenarche and puberty in children with classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Open accessAbstract
UNLABELLED: There have been only a few studies on adrenarche in girls with classic congenital adrenal hyperplasia (CAH) showing that dehydroepiandrosterone sulfate (DHEAS) levels did not rise at the physiological age of adrenarche. OBJECTIVE: Longitudinal analysis of serum DHEAS levels and Tanner stages in CAH children. DESIGN: We studied 98 CAH patients (52 females), aged between 1 month and 18.0 years. All patients had genetically proven classic CAH and received steroid substitution therapy. RESULTS: Serum DHEAS levels did not differ between CAH children and healthy children from the age of 1 year until 5-6 years. Beginning at the age of 7-8 years, there was a continuous but blunted increase in DHEAS levels in CAH boys and girls compared to healthy children. There was no correlation of DHEAS levels with the genotype, glucocorticoid dosage, auxological data, or quality of metabolic control. Pubarche (PH2) as well as gonadarche (G2) and thelarche (B2) occurred significantly earlier in CAH boys and girls than in the reference group, but timing of menarche was normal. CONCLUSIONS: Pubarche and adrenarche are dissociated in classic CAH: earlier pubarche, gonadarche and thelarche, respectively, in both sexes contrast with the absence of typical adrenarche.
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Young women with well-controlled CAH usually experience normal menarche.
“Young women with well-controlled CAH usually experience normal menarche (34), but poor control is associated with acne, female hirsutism, male pattern baldness, altered body habitus, irregular menses, and sub-normal fertility (35).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [34]
Age of menarche is normal in well-controlled girls, with no difference between SW, SV and NC CAH.
“Age of menarche is normal in well-controlled girls, with no difference between SW, SV and NC CAH (34,356,372,425,648).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [34]
Low DHEAS levels in the classic CAH cohort were not solely due to glucocorticoid control but reflect the known blunted DHEA secretion of classic CAH.
“As such, low DHEAS levels in our cohort were not solely a reflection of GC control, but a well-known phenomenon of blunted DHEA secretion in patients with classic CAH.”
From Cortical bone mineral density in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (2015) · cites this paper as [33]
Patients with classic CAH have low DHEAS levels in the first year of life, before and independently of treatment control.
“This is further supported by the fact that patients with classic CAH have low DHEAS levels in the first year of life, prior to and unrelated to treatment control, as evidenced by untreated patients with classic CAH who have low DHEAS levels despite high 17-OHP and T levels 33.”
From Cortical bone mineral density in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency (2015) · cites this paper as [33]
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- Authors
- Völkl, T. M. K., Öhl, L., Rauh, M., Schöfl, C., & Dörr, H. G.
- Affiliations
- Friedrich-Alexander-Universität Erlangen-Nürnberg (DE)
- Venue
- Hormone Research in Paediatrics
- Publisher
- S. Karger AG
- Published
- 2011
- Volume
- 76
- Issue
- 6
- Pages
- 400-410
- ISSN
- 1663-2818 (ISSN-L)
- 1663-2826
- OpenAlex
- W2042605913
- Cited by
- 29
- References
- 45
- Citations by year
- 2026: 2 · 2025: 1 · 2024: 1 · 2023: 4 · 2022: 3 · 2021: 5 · 2020: 4 · 2019: 3 · 2018: 1 · 2016: 2 · 2015: 2 · 2014: 1
- FWCI
- 0.13
- Type
- journal article
- Language
- en
- Open access
- green
- opus4.kobv.de
- Locations
- Hormone Research in Paediatrics (publishedVersion)
- PubMed (publishedVersion)
- OPUS FAU (Kooperativer Bibliotheksverbund Berlin-Brandenburg (KOBV), on behalf of the Universitätsbibliothek Erlangen-Nürnberg) (submittedVersion, other-oa)
- 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
- adrenarche, puberty, classic congenital adrenal hyperplasia, 21-hydroxylase deficiency, dehydroepiandrosterone sulfate, pubarche, gonadarche, thelarche, menarche timing, steroid replacement therapy, Tanner stages
- MeSH terms
- Adolescent, Adrenal Hyperplasia, Congenital, Child, Child Development, Child, Preschool, Female, Glucocorticoids, Humans, Infant, Infant, Newborn, Longitudinal Studies, Male, Medical Records, Organ Size, Puberty, Retrospective Studies, Cohort Studies, Dehydroepiandrosterone Sulfate, Adolescent Development, Mammary Glands, Human, Adrenarche
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