AI Article Synopsis
- Seven Iraqi patients with ambiguous genitalia and 46,XY karyotype exhibited characteristics like perineo-scrotal hypospadias and bifid scrotum, with five raised as females and two as males.
- Diagnosis of 5-α-reductase-2 deficiency syndrome was suggested clinically and confirmed through molecular analysis, revealing specific mutations in the SRD5A2 gene.
- The report highlights the implications for clinical genetics and surgery, recommending appropriate treatment strategies for these patients.
Article Abstract
We report on seven Iraqi patients with 46,XY karyotype and ambiguous genitalia characterized by perineo-scrotal hypospadias, bifid scrotum, clitoris like phallus, palpable testes in inguinal canal and pseudovagina. Patients were raised five as females and two as males. They are all unrelated with the exception of two couples of brothers. The diagnosis of 5-α-reductase-2 deficiency syndrome was first hypothesized on clinical grounds and then confirmed by molecular analysis. Direct sequencing analysis of the SRD5A2 gene revealed in five patients a novel homozygous frame-shift mutation (c.453delC) and in two related patients a previous reported missense mutation. The presence of the same mutation in unrelated patients of the same population suggests a possible founder effect. This report brings the 5-α-reductase-2 deficiency syndrome to the attention of clinical geneticists and child surgeons and discusses the appropriate clinical and surgical strategies for treating these patients.
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| http://dx.doi.org/10.1016/j.gene.2013.04.070 | DOI Listing |
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