Pubertal development among girls with classical congenital adrenal hyperplasia initiated on treatment at different ages
Open accessAbstract
INTRODUCTION: Children with congenital adrenal hyperplasia (CAH) provide us an opportunity to study the clinical effects of androgen excess in humans. We studied the sequence of pubertal development in girls with congenital adrenal hyperplasia initiated on treatment at different ages, to assess the effects of androgen exposure on the Hypothalamic-Pituitary-Ovarian (HPO) axis. MATERIALS AND METHODS: Girls more than 18 years of age, with CAH, on follow-up at this hospital were the subjects for this study. Details of history, physical findings, laboratory evaluation, and medication were noted from their case records and verified from the patients and their / parents, in addition to assessment of their present health status. RESULT: We studied 24 patients of classical CAH (SW-2, SV-22, average age - 24.5 ± 6.6 years). All had varying degrees of genital ambiguity (Prader stage 3 (n = 13), Prader stage 2 (n = 10), Prader stage 1 (n = 1). Among them were13 girls, who were started on steroids after eight years of age. Girls who received treatment from infancy and early childhood had normal pubertal development (mean age at menarche 11.4 ± 1.7 years). Hirsutism was not a problem among them. Untreated children had progressive clitoral enlargement throughout childhood, developed pubic hair at around three to six years of age, and facial hair between nine and eleven years. Plasma testosterone ranged from 3 to 6 ng / ml prior to treatment. Six of the 13 untreated CAH girls had subtle breast development starting at ages 11 - 16 years and three had spontaneous infrequent vaginal bleeding starting at ages 11 - 17. Steroid supplementation initiated pubertal changes in older girls in two-to-six months' time. CONCLUSION: There was a delay in HPO axis maturation (as evidenced by delayed pubertal development) in the absence of treatment in girls with CAH. This could be corrected with steroid supplementation.
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Late diagnosis and/or poor hormonal control may improve BMD due to high androgen concentrations.
“Thus, late diagnosis and/or poor hormonal control may improve BMD due to high androgen concentrations (646,718).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [646]
The Discussion describes androgen exposure and delayed pubertal development, while its references to bone concern bone age and growth velocity, not bone mineral density. Searches for BMD and bone density found no passage saying that late diagnosis or poor hormonal control improves BMD through high androgen concentrations. (LLM, conf=0.76)
Experimental — accuracy not yet measuredAdult women with CAH had more fractures than matched controls whereas men with CAH did not.
“Furthermore, adult women with CAH had more fractures than matched controls (718) whereas men with CAH did not (646).”
From Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management (2022) · cites this paper as [646]
The Materials and Methods section describes a study of women with CAH and explicitly excludes boys with CAH; it does not describe matched controls. Searches for fractures and fracture risk found no passage reporting fracture outcomes for women or men. (LLM, conf=0.76)
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Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
Claahsen - van der Grinten, H. L., Speiser, P. W., Ahmed, S. F., Arlt, W., Auchus, R. J., Falhammar, H., Flück, C. E., Guasti, L., Huebner, A., Kortmann, B. B. M., et al. (2022) · Endocrine Reviews · doi:10.1210/endrev/bnab016 · Cited by 556 · see citing works
- Authors
- Ammini, A., Kulshreshtha, B., & Eunice, M.
- Affiliations
- All India Institute of Medical Sciences (IN)
- Corresponding author
- Ammini, AriacheryC
- ORCID
- Kulshreshtha, Bindu
- Venue
- Indian Journal of Endocrinology and Metabolism
- Published
- 2012
- Volume
- 16
- Issue
- 4
- Pages
- 599
- ISSN
- 2230-8210 (ISSN-L)
- PMC
- PMC3401763
- OpenAlex
- W2087717250
- Cited by
- 19
- References
- 4
- Citations by year
- 2026: 1 · 2025: 1 · 2024: 1 · 2021: 2 · 2020: 1 · 2019: 1 · 2018: 1 · 2016: 4 · 2015: 3 · 2013: 4
- FWCI
- 0.90
- Type
- journal article
- Language
- en
- Open access
- diamond
- doi.org
- Licence
- cc-by-nc-sa
- Locations
- Indian Journal of Endocrinology and Metabolism (publishedVersion, cc-by-nc-sa)
- Europe PMC (PubMed Central) (publishedVersion, cc-by-nc-sa)
- PubMed Central (publishedVersion, cc-by-nc-sa)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion)
- 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
- classical congenital adrenal hyperplasia, pubertal development, girls, hyperandrogenism, hypothalamic-pituitary-ovarian axis, age at treatment initiation, age at menarche, clitoral enlargement, ambiguous genitalia, plasma testosterone, breast development, hirsutism
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