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

J Endocrinol Invest. 2011 Oct;34(9):660-4. doi: 10.3275/7410. Epub 2010 Dec 15.

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.

MeSH terms

  • 17-alpha-Hydroxyprogesterone / blood
  • Adolescent
  • Adrenal Hyperplasia, Congenital / genetics*
  • Adrenal Hyperplasia, Congenital / physiopathology*
  • Adrenocorticotropic Hormone / blood
  • Adult
  • Age Determination by Skeleton
  • Child
  • Female
  • Genetic Testing
  • Genotype*
  • Humans
  • Male
  • Mutation
  • Phenotype*
  • Puberty
  • Steroid 21-Hydroxylase / genetics

Substances

  • 17-alpha-Hydroxyprogesterone
  • Adrenocorticotropic Hormone
  • Steroid 21-Hydroxylase