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

Abstract：

:Non-classical congenital adrenal hyperplasia (NCAH) 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.

journal_name

J Endocrinol Invest

journal_title

Journal of endocrinological investigation

authors

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

doi

10.3275/7410

subject

Has Abstract

pub_date

2011-10-01 00:00:00

pages

660-4

issue

9

eissn

0391-4097

issn

1720-8386

pii

7410

journal_volume

34

pub_type

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