Phenotype, sex of rearing, gender re-assignment and response to medical treatment in extended family with a novel mutation in the SRD5A2 gene.

We report an extended family with 11 affected members. The family displayed various phenotype on presentation leading to different sex of rearing. Some family members reassigned gender at various stages of life. The index case was born with severe undervirilization with bilaterally palpable gonads and was raised as male from birth. The patient had a 46 XY karyotype and had a high Testosterone dihydrotestosterone ration (33). A novel homozygous deletion of exon 2 of the SRD5A2 gene was detected in the index case. Both parents were found to be carriers for the gene deletion. The patient had masculinizing surgery and a course of topical dihydrotestosterone. No beneficial effect of the hormone was noted over 3 months and treatment was discontinued. Deletion of exon 2 in the SRD5A2 gene causes various degrees of genital ambiguity leading to different sex of rearing in affected family members. Gender reassignment can be seen at various ages even in conservative communities like the Gulf region. Topical dihydrostestosteron might not be useful in severe undervirilization in patients who harbor this type of mutation. PMID: 27086719 [PubMed - as supplied by publisher]
Source: JCRPE Journal of Clinical Research in Pediatric Endocrinology - Category: Endocrinology Tags: J Clin Res Pediatr Endocrinol Source Type: research