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.
Al-Jurayyan (2011) conducted a retrospective study in the pediatric endocrine clinic at a university hospital Saudi Arabia during the period 1989-2008. Medical records of 81 children with ambiguous genitalia were reviewed. Fifty three (65%) of the patients were genetically females (46XX). Male genetic sex (46XY) was present in only 28 (35%) patients with a diversity of causes; multiple congenital anomalies in nine (32%), local anorectal anomalies in two (7%), congenital adrenal hyperplasia (3-beta-hydroxysteroid dehydrogenase deficiency) in two (7%), 5-alpha-reductase deficiency in four (14%), partial androgen insensitivity in three (11%), complete androgen insensitivity in four (14%), and hypogonadotrophin deficiency in four (14%). Twenty-five (47%) of females were wrongly assigned as males, where only two (7%) males were wrongly assigned as females.
17β-Hydroxysteroid dehydrogenases ( 17β-HSD , HSD17B ) ( EC ), also 17-ketosteroid reductases ( 17-KSR ), are a group of alcohol oxidoreductases which catalyze the reduction of 17-ketosteroids and the dehydrogenation of 17β-hydroxysteroids in steroidogenesis and steroid metabolism .      This includes interconversion of DHEA and androstenediol , androstenedione and testosterone , and estrone and estradiol .