Back to Search
Start Over
Genotype, phenotype and hormonal levels correlation in nonclassical congenital adrenal hyperplasia
- Publication Year :
- 2011
-
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.
Details
- Language :
- English
- Database :
- OpenAIRE
- Accession number :
- edsair.pmid.dedup....c7f693c455e5b6952d5d61a8b8a6dd48