Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: prevalence of a novel mutation.
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.
['Di Marco|Chiara|C|', 'Bulotta|Anna Lavinia|AL|', 'Varetti|Concetta|C|', 'Dosa|Laura|L|', 'Michelucci|Angela|A|', 'Baldinotti|Fulvia|F|', 'Meucci|Daniela|D|', 'Castagnini|Cinzia|C|', 'Lo Rizzo|Caterina|C|', 'Di Maggio|Giovanni|G|', 'Simi|Paolo|P|', 'Mari|Francesca|F|', 'Bertelloni|Silvano|S|', 'Renieri|Alessandra|A|', 'Messina|Mario|M|']
D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase D000293:Adolescent D002648:Child D002675:Child, Preschool D042944:Cholestenone 5 alpha-Reductase D003241:Consanguinity D012734:Disorders of Sex Development D005260:Female D006801:Humans D007493:Iraq D008297:Male D008565:Membrane Proteins D009154:Mutation D059645:Mutation Rate D010375:Pedigree D010641:Phenotype
SRD5A2 SRD5A2 gene Founder effect 46,XY DSD 5-α-reductase type 2 AR DHT DSD MRI Phenotypic variability SRD Steroid 5-α-reductase-2 deficiency T androgen receptor dihydrotestosterone hCG human chorionic gonadotropin magnetic resonance imaging sex development disorder steroid 5-α-reductase deficiency testosterone