To determine whether some patients with idiopathic hypospadias (146450) have a mutation in the HSD3B2 gene, Codner et al. (2004) conducted a prospective endocrine and molecular study in 90 patients with hypospadias and 101 healthy fertile male controls. They did not observe a clear steroidogenic pattern suggestive of 3-beta-HSD deficiency in any patient. Two patients had heterozygous missense mutations in the HSD3B2 gene; in another 3 patients, the authors observed heterozygous nucleotide variants in exon 4 that did not produce a change in amino acids. The authors concluded that subtle molecular abnormalities in the HSD3B2 gene may be observed in some patients with apparent idiopathic hypospadias but that this finding is uncommon.
Congenital adrenal hyperplasia is a metabolic disorder related to enzymatic defects in the biosynthesis of cortical steroids. Typically the defects are inherited in an autosomal recessive manner, and within a particular family all inherit the same enzyme deficiency (1).