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Cited by 106Sexual Differentiation and DisordersAdrenal Hormones and DisordersOvarian function and disorders

Long-Term Outcome of Patients with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency

Bachelot, Anne, Plu-Bureau, Geneviève, Thibaud, Elisabeth, Laborde, Kathleen, Pinto, Graziella, Samara, Dinane, Nihoul-Fékété, Claire, Kuttenn, Frédérique +2 more·2007·Hormone Research in Paediatrics
DOI 10.1159/000098017
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Abstract

Aims: Conflicting results exist regarding bone mineral density (BMD), metabolism and reproductive function of adult patients with congenital adrenal hyperplasia (CAH). We evaluated the long-term outcome and the impact of chronic glucocorticoid replacement in these patients. Methods: Physical characteristics, serum hormone concentrations, BMD and metabolism were studied in 45 consecutive CAH adult patients. Results: Among the 36 women, only 14 (39%) had regular menses. Among the 27 women with classical CAH, the mean number of surgical reconstructions of virilized genitalia was 2.1 ± 0.2. Twenty of them (74%) were sexually active. Three men presented with testicular adrenal rest tumors. Twenty-five patients (55%) had decreased BMD at the femoral neck and/or at the lumbar spine. BMI was correlated with the BMD T-score at the femoral neck (p < 0.001) and at the lumbar spine (p < 0.01). Hydrocortisone dose was negatively correlated with the BMD T-score at the femoral neck (p = 0.04). Subjects with osteopenia had a significantly lower BMI and received higher hydrocortisone dose than those with normal BMD. Overweight was found in 21 patients (47%). There was a significantly positive correlation between HOMA and BMI (p < 0.001), and between HOMA and 17-OHP levels (p = 0.016). Conclusions: Adult patients with CAH treated with long-term glucocorticoids are at risk for decreased BMD, increased BMI, and disturbed reproductive function.

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Crossref · 10.1159/000098017

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Authors
Bachelot, A., Plu-Bureau, G., Thibaud, E., Laborde, K., Pinto, G., Samara, D., Nihoul-Fékété, C., Kuttenn, F., Polak, M., & Touraine, P.
Affiliations
Hôpital Necker-Enfants Malades (FR)
ORCID
Venue
Hormone Research in Paediatrics
Publisher
S. Karger AG
Published
2006-12-14
Volume
67
Issue
6
Pages
268-276
ISSN
  • 1663-2818 (ISSN-L)
  • 1663-2826
DOI
10.1159/000098017
OpenAlex
W1971946657
Cited by
106
References
33
Citations by year
2025: 3 · 2024: 2 · 2023: 5 · 2022: 4 · 2021: 4 · 2020: 3 · 2019: 8 · 2018: 4 · 2017: 1 · 2016: 5 · 2015: 7 · 2014: 9 · 2013: 8 · 2012: 7
FWCI
2.57
Type
journal article
Language
en
Open access
closed
Licence
Locations
  • Hormone Research in Paediatrics (publishedVersion)
  • PubMed (publishedVersion)
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
congenital adrenal hyperplasia, 21-hydroxylase deficiency, long-term outcomes, bone mineral density, osteopenia, hydrocortisone dose, glucocorticoid replacement therapy, reproductive function, menstrual irregularity, adrenal rest tumor, body mass index, insulin resistance, HOMA, 17-hydroxyprogesterone, adult patients
MeSH terms
Adrenal Hyperplasia, Congenital, Adult, Bone and Bones, Female, Glucocorticoids, Glucose, Humans, Long-Term Care, Male, Obesity, Retrospective Studies, Steroid 21-Hydroxylase, Bone Density, Treatment Outcome, Hormone Replacement Therapy

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