<abstract xml:lang="en" xmlns="http://www.w3.org/1999/xhtml"><p>Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disease with a variable clinical presentation caused by a spectrum of different mutations. A significant association of genotype with phenotype has been reported.</p><p>The molecular analysis of a girl with a mild form of CAH presenting with precocious pubarche, confirmed that she was heterozygous for two mutations of the CYP21 gene (exon 1, codon 30/exon 8, codon 318). Her mother was homozygous for the codon 30 mutation and her father was homozygous for the codon 318 mutation. The only anomaly in the parents was a difficulty in conceiving. The molecular analysis of this family confirmed the variability of presentation in carriers of different mutations, which caused difficulties in decisions about the timing of therapy and in genetic counseling.</p></abstract>

Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disease with a variable clinical presentation caused by a spectrum of different mutations. A significant association of genotype with phenotype has been reported.The molecular analysis of a girl with a mild form of CAH presenting with precocious pubarche, confirmed that she was heterozygous for two mutations of the CYP21 gene (exon 1, codon 30/exon 8, codon 318). Her mother was homozygous for the codon 30 mutation and her father was homozygous for the codon 318 mutation. The only anomaly in the parents was a difficulty in conceiving. The molecular analysis of this family confirmed the variability of presentation in carriers of different mutations, which caused difficulties in decisions about the timing of therapy and in genetic counseling.

Molecular Analysis of a Family With Congenital Adrenal Hyperplasia - Genotype/Phenotype Discrepancy

Medical Faculty, University Pediatric Clinic, Skopje, Republic of Macedonia

Balkan Journal of Medical Genetics

Congenital adrenal hyperplasia (CAH) is a common autosomal recessive disease with a variable clinical presentation caused by a spectrum of different mutations....

Molecular Analysis of a Family With Congenital Adrenal Hyperplasia - Genotype/Phenotype Discrepancy

Published Online: May 30, 2008

Page range: 23 - 28

DOI: https://doi.org/10.2478/v10034-008-0003-3

Keywords
Congenital adrenal hyperplasia (CAH), CYP Mutations, Phenotype

This content is open access.

Molecular Analysis of a Family With Congenital Adrenal Hyperplasia - Genotype/Phenotype Discrepancy

Published Online: May 30, 2008

Page range: 23 - 28

DOI: https://doi.org/10.2478/v10034-008-0003-3

KeywordsCongenital adrenal hyperplasia (CAH), CYP Mutations, Phenotype

This content is open access.

Keywords
Congenital adrenal hyperplasia (CAH), CYP Mutations, Phenotype