title: 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.
authors.affiliation: Division of Pediatric Endocrinology and Diabetology, University of Turin, Turin, Italy.
authors.forename: S
authors.initials: S
authors.lastname: Einaudi
authors.forename: E
authors.initials: E
authors.lastname: Napolitano
authors.forename: F
authors.initials: F
authors.lastname: Restivo
authors.forename: G
authors.initials: G
authors.lastname: Motta
authors.forename: M
authors.initials: M
authors.lastname: Baldi
authors.forename: G
authors.initials: G
authors.lastname: Tuli
authors.forename: E
authors.initials: E
authors.lastname: Grosso
authors.forename: N
authors.initials: N
authors.lastname: Migone
authors.forename: E
authors.initials: E
authors.lastname: Menegatti
authors.forename: C
authors.initials: C
authors.lastname: Manieri
mesh_terms: D019326:17-alpha-Hydroxyprogesterone / Q000097:blood; D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics* / Q000503:physiopathology*; D000324:Adrenocorticotropic Hormone / Q000097:blood; D000328:Adult; D000365:Age Determination by Skeleton; D002648:Child; D005260:Female; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D010641:Phenotype; D011627:Puberty; D013255:Steroid 21-Hydroxylase / Q000235:genetics
chemical_list: D019326:17-alpha-Hydroxyprogesterone; D000324:Adrenocorticotropic Hormone; D013255:Steroid 21-Hydroxylase