Nonclassical 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 SDS (Standard deviation Score) and delta BA-CA (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.

Genotype, phenotype and hormonal levels correlation in nonclassical congenital adrenal hyperplasia

NAPOLITANO, EMANUELA;MOTTA, GIOVANNA;BALDI, Matteo Domenico;MIGONE, Nicola;MENEGATTI, Elisa;MANIERI, Chiara
2011

Abstract

Nonclassical 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 SDS (Standard deviation Score) and delta BA-CA (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.
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Einaudi S; Napolitano E; Restivo F; Motta G; Baldi M; Tuli G; Grosso E; Migone N; Menegatti E; Manieri C
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2318/80847
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