Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: prevalence of a novel mutation.

doi:10.1016/j.gene.2013.04.070

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Article

Ambiguous external genitalia due to defect of 5-α-reductase in seven Iraqi patients: prevalence of a novel mutation.

Gene - 10 Sept 2013

Di Marco Chiara, Bulotta Anna Lavinia, Varetti Concetta, Dosa Laura, Michelucci Angela, Baldinotti Fulvia, Meucci Daniela, Castagnini Cinzia, Lo Rizzo Caterina, Di Maggio Giovanni, Simi Paolo, Mari Francesca, Bertelloni Silvano, Renieri Alessandra, Messina Mario

Abstract excerpt

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...

Topics

3-Oxo-5-alpha-Steroid 4-Dehydrogenase
Adolescent
Child
Child, Preschool
Cholestenone 5 alpha-Reductase
Consanguinity
Disorders of Sex Development
Female
Humans
Iraq
Male
Membrane Proteins

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PMID: 23664981
DOI: 10.1016/j.gene.2013.04.070

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