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Cited by 101Sexual Differentiation and DisordersAdrenal Hormones and DisordersMetabolism and Genetic Disorders

Follow-Up of 68 Children with Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Relevance of Genotype for Management

Pinto, G., Tardy, V., Trivin, C., Thalassinos, C., Lortat-Jacob, S., Nihoul-Fékété, C., Morel, Y., Brauner, R.·2003·The Journal of Clinical Endocrinology & Metabolism
DOI 10.1210/jc.2002-021433
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Abstract

The phenotype of congenital adrenal hyperplasia (CAH) varies greatly. The purpose of this study was to optimize diagnosis and follow-up by comparing phenotype with genotype. Sixty-eight patients with CAH due to 21-hydroxylase deficiency were studied by clinical, hormonal, and molecular genetic methods. Patients were classified according to predicted mutation severity: group 0, null mutation (17.6%); group A, homozygous for IVS2 splice mutation or compound heterozygous for IVS2 and null mutations (33.8%); group B, homozygous or compound heterozygous for I172N mutation (14.7%); group C, homozygous or compound heterozygous for V281L or P30L mutations (26.5%); and group D, mutations with unknown enzyme activity (7.4%). All group 0 and A patients had the salt-wasting form, and group C had nonclassical forms. Group B included five salt-wasting and five simple virilizing forms. Groups 0 and A were younger at diagnosis (P < 0.02), and females were more virilized than those in group B. Group B had higher basal plasma 17-hydroxyprogesterone (564 +/- 162 nmol/liter) and testosterone (11 +/- 3 nmol/liter) levels than group C [59 +/- 13 nmol/liter (P < 0.001) and 1.4 +/- 0.2 nmol/liter (P < 0.005), respectively]. Hydrocortisone doses given to groups 0, A, and B were similar at all ages, but lower in group C (P < 0.01). Final height was below target height in classical (n = 16; -2 +/- 0.2 SD score; P < 0.02) and nonclassical (n = 11; -1.2 +/- 0.4 SD score; P < 0.03) forms. The severity of…

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  • One study reported 2 deaths in young children with congenital adrenal hyperplasia from hypoglycaemic seizures.

    “However, we found one other study that reported 2 deaths in young children with CAH from hypoglycaemic seizures (40).”

    From Hypoglycaemia in adrenal insufficiency (2023) · cites this paper as [40]

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Authors
Pinto, G., Tardy, V., Trivin, C., Thalassinos, C., Lortat-Jacob, S., Nihoul-Fékété, C., Morel, Y., & Brauner, R.
Affiliations
  • Hôpital Necker-Enfants Malades (FR)
  • Inserm (FR)
  • Fondation Hôpital Saint-Joseph (FR)
ORCID
Venue
The Journal of Clinical Endocrinology & Metabolism
Publisher
The Endocrine Society
Published
2003-06
Volume
88
Issue
6
Pages
2624-2633
ISSN
  • 0021-972X (ISSN-L)
  • 1945-7197
DOI
10.1210/jc.2002-021433
OpenAlex
W2036685668
Cited by
101
References
4
Citations by year
2025: 2 · 2023: 6 · 2021: 1 · 2020: 4 · 2019: 4 · 2018: 1 · 2017: 6 · 2016: 3 · 2015: 2 · 2014: 2 · 2013: 4 · 2012: 2
FWCI
1.61
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
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Keywords
congenital adrenal hyperplasia, 21-hydroxylase deficiency, genotype-phenotype correlation, mutation severity, salt-wasting phenotype, masculinization, 17-hydroxyprogesterone, hydrocortisone dose, adult height, pediatric follow-up
MeSH terms
Adolescent, Adrenal Hyperplasia, Congenital, Body Height, Child, Child, Preschool, Female, Humans, Hydrocortisone, Infant, Infant, Newborn, Male, Metabolism, Inborn Errors, Treatment Outcome

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