Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members

Bidet, Maud; Bellanné-Chantelot, Christine; Galand-Portier, Marie-Béatrice; Tardy, Véronique; Billaud, Line; Laborde, Kathleen; Coussieu, Christiane; Morel, Yves; Vaury, Christelle; Golmard, Jean-Louis; Claustre, Aurélie; Mornet, Etienne; Chakhtoura, Zeina; Mowszowicz, Irene; Bachelot, Anne; Touraine, Philippe; Kuttenn, Frédérique

doi:10.1210/jc.2008-1582

Cited by 213Sexual Differentiation and DisordersAdrenal Hormones and DisordersOvarian function and disorders

Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members

Bidet, Maud, Bellanné-Chantelot, Christine, Galand-Portier, Marie-Béatrice, Tardy, Véronique, Billaud, Line, Laborde, Kathleen, Coussieu, Christiane, Morel, Yves +9 more·2009·The Journal of Clinical Endocrinology & Metabolism

DOI 10.1210/jc.2008-1582

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Abstract

CONTEXT: Nonclassical congenital adrenal hyperplasia (NC-CAH) due to partial 21-hydroxylase deficiency is one of the most frequent autosomal recessive diseases. OBJECTIVE: The aim of this study was to determine the genotype/phenotype relationship in probands and family members. PATIENTS AND METHODS: A total of 161 NC-CAH unrelated women diagnosed on late-onset symptoms, mainly hirsutism, and post-ACTH 17-hydroxyprogesterone more than 10 ng/ml, and 330 of their relatives was explored. CYP21A2 was genotyped in 124 probands. RESULTS: The most frequent mutation was V281L. One severe mutation was found in 63.7% of probands, and surprisingly two severe mutations in four probands. Contrasting with the absence of clinical differences, basal testosterone, and androstenedione, basal and post-ACTH 17-hydroxyprogesterone were significantly higher in probands carrying at least one severe mutation than in those with two mild mutations (P < 0.01). Among the 330 family members, 51 were homozygotes or compound heterozygotes, and 42 were clinically asymptomatic; 242 were heterozygotes and 37 unaffected. Post-ACTH 21-deoxycortisol (21dF) was significantly higher in heterozygotes than in unaffected, however, an overlap existed. In 12 heterozygotes, post-ACTH 21dF was below 0.55 ng/ml, the cutoff value usually accepted for suggesting heterozygosity. CONCLUSIONS: The study of family members underlines the variable expression of NC-CAH even within a family, suggesting that modifier factors may modulate phenotype expression. Post-ACTH 21dF cannot reliably detect heterozygous subjects. Considering the high frequency of heterozygotes in the general population, it is essential to genotype the partner(s) of the patients with one severe mutation to offer genetic counseling.

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Clinically, patients with 11βOH deficiency present similar to 21OH deficiency, with signs of androgen excess, but also have hypertension rather than salt loss.
“Clinically, patients present similar to 21OH deficiency, with signs of androgen excess, but also have hypertension rather than salt loss (Table 2).28”
From Congenital adrenal hyperplasia (2017) · cites this paper as [28]
For patients with nondiagnostic stimulated 17OHP values, particularly those receiving glucocorticoid therapy, genotyping may confirm the diagnosis.
“For patients with nondiagnostic stimulated 17OHP values, particularly those receiving GC therapy, genotyping (171, 176, 177) may confirm the diagnosis.”
From Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline (2018) · cites this paper as [171]
For NCCAH, almost 70% of diagnosed patients are compound heterozygotes carrying one allele causing classic CAH and one causing NCCAH.
“For NCCAH, almost 70% of diagnosed patients are compound heterozygotes, carrying one allele that causes classic CAH and one that causes NCCAH (171, 246).”
From Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline (2018) · cites this paper as [171]
Some individuals with NCCAH (60% in one small study) showed an inadequate response to cosyntropin stimulation, but none had frank episodes of adrenal insufficiency.
“Some individuals with NCCAH (60% in one small study) showed an inadequate response to cosyntropin stimulation, but none had frank episodes of adrenal insufficiency (171, 238, 239).”
From Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline (2018) · cites this paper as [171]

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Authors: Bidet, M., Bellanné-Chantelot, C., Galand-Portier, M.-B., Tardy, V., Billaud, L., Laborde, K., Coussieu, C., Morel, Y., Vaury, C., Golmard, J.-L., Claustre, A., Mornet, E., Chakhtoura, Z., Mowszowicz, I., Bachelot, A., Touraine, P., & Kuttenn, F.
Affiliations: Assistance Publique – Hôpitaux de Paris (FR)
Université Lumière Lyon 2 (FR)
Hôpital Cochin (FR)
Hôpital Necker-Enfants Malades (FR)
Inserm (FR)
Corresponding author: Kuttenn, Frédérique
ORCID: Morel, Yves
Chakhtoura, Zeina
Bachelot, Anne
Touraine, Philippe
Venue: The Journal of Clinical Endocrinology & Metabolism
Publisher: The Endocrine Society
Published: 2009-05
Volume: 94
Issue: 5
Pages: 1570-1578
ISSN: 0021-972X (ISSN-L)
1945-7197
DOI: 10.1210/jc.2008-1582
OpenAlex: W2073726358
Cited by: 213
References: 39
Citations by year: 2026: 9 · 2025: 4 · 2024: 13 · 2023: 16 · 2022: 13 · 2021: 15 · 2020: 16 · 2019: 12 · 2018: 11 · 2017: 11 · 2016: 11 · 2015: 14 · 2014: 7 · 2013: 12 · 2012: 14
FWCI: 6.44
Type: journal article
Language: en
Open access: closed
Locations: The Journal of Clinical Endocrinology & Metabolism (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: non-classical congenital adrenal hyperplasia, 21-hydroxylase deficiency, CYP21A2 mutations, genotype-phenotype correlation, compound heterozygosity, heterozygous carriers, 17-hydroxyprogesterone, hirsutism, variable expressivity, genetic modifiers, genetic counseling, autosomal recessive disorder
MeSH terms: Adolescent, Adrenal Hyperplasia, Congenital, Adult, Child, Female, Genetics, Genotype, Heterozygote, Histocompatibility Testing, Homozygote, Hormones, Humans, Male, Middle Aged, Mutation, Phenotype, Steroid 21-Hydroxylase, Cohort Studies, Young Adult

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Clinical and molecular characterization of a cohort of 161 unrelated women with nonclassical congenital adrenal hyperplasia due to 21-hydroxylase deficiency and 330 family members

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