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Genotype, phenotype and hormonal levels correlation in non-classical congenital adrenal hyperplasia

Journal of Endocrinological Investigation, ISSN: 0391-4097, Vol: 34, Issue: 9, Page: 660-664
2011
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Article Description

Non-classical congenital adrenal hyperplasia (NC-AH) is a morbid condition sustained by the reduced function of one of the enzymes involved in the adrenal steroid biosynthesis pathway, mainly the 21-hydroxylase. Different degrees of enzyme activity impairment determine different clinical pictures, with childhood or post-pubertal onset. The aim of this study was to evaluate the relationship between genotype, phenotype, and adrenal hormonal levels in a group of 66 patients affected by NCAH attending outpatient pediatric or endocrinological Clinics. Our findings show that age at pubarche/menarche was significantly younger, height SD score) and Δ bone age-chronological age were significantly higher in patients with a more severe enzyme activity impairment, while cutaneous androgenization and menstrual irregularities in post-pubertal girls were not related to the grading of genotype. ©2011, Editrice Kurtis.

Bibliographic Details

S. Einaudi; G. Tuli; E. Napolitano; G. Motta; M. Baldi; C. Manieri; F. Restivo; E. Grosso; N. Migone; E. Menegatti

Medicine; Biochemistry, Genetics and Molecular Biology

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