Phenotype, Sex of Rearing, Gender Re-Assignment, and Response to Medical Treatment in Extended Family Members with a Novel Mutation in the SRD5A2 Gene.

摘要: Deficiency of steroid 5-alpha reductase-2 (5ARD2) is an inborn error metabolism causing a disorder sexual differentiation. It caused by mutation in the SRD5A2 gene which various types have been reported. Affected individuals broad spectrum presentation ranging from normal female-appearing genitalia, cliteromegaly, microphallus, hypospadias, to completely male-appearing genitalia. We report extended Emirati family with 11 affected members. The displayed phenotypes on leading different sex rearing. Some members were reassigned gender at stages life. index case was born severe undervirilization bilaterally palpable gonads and raised as male birth. He had 46,XY karyotype high testosterone/dihydrotestosterone ratio. Genetic investigation revealed novel homozygous deletion exon 2 gene. Both parents found be carriers for deletion. patient masculinizing surgery course topical dihydrotestosterone. No beneficial effect hormone application noted over 3 months treatment discontinued. findings this kindred indicate that causes degrees genital ambiguity rearing Gender reassignment may done ages even conservative communities like Gulf region.