Journal of Andrology
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Published-Ahead-of-Print July 3, 2007, DOI:10.2164/jandrol.107.002592

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Molecular characterization of six unrelated Italian patients with 5{alpha}-reductase type 2 deficiency

Fulvia Baldinotti *, Silvia Majore , Antonella Fogli , Giacinto Marrocco , Paolo Ghirri , Marco Vuerich , Stefano Tumini , Brunetto Boscherini , Mario Giuseppe Vetri , Salvatore Scommegna , Rosanna Rinaldi , Paolo Simi , and Paola Grammatico

* To whom correspondence should be addressed. E-mail: f.baldinotti{at}libero.it.

Steroid 5{alpha}-reductase (5{alpha}R) deficiency (OMIM 264600) is a rare 46,XY disorder of sex differentiation (46,XY DSD) caused by mutations in the 5{alpha}R type 2 gene (SRD5A2) resulting in dihydrotestosterone (DHT) deficiency during fetal development. Here we report the analysis of the SRD5A2 gene in six unrelated 46,XY Italian patients with external genitalia morphology ranging from predominantly female to nearly complete male. Three subjects were seen and assessed at birth, one patient was referred to us before puberty and two at post-pubertal age. Six different causative mutations (five missense and one nonsense) and a rare polymorphism were identified. Four patients presented homozygous single base substitutions. These SRD5A2 mutations were located at exon 2 (C133G), exon 4 (G196S and A207D) and exon 5 (Y235F). A fifth subject was a compound heterozygote which carried a nonsense mutation in exon 1 (W53X) and a second SRD5A2 alteration in exon 5 (Y235F). A patient presented a mutation in only one allele (G34W) together with the A49T variant. The molecular characterization of these patients made it possible to identify novel mutations and to confirm, before gender assignment or any surgical approach, the suspected 5{alpha}R deficiency in two newborns, one of whom with inconclusive hormonal data. 5R{alpha} deficiency in subjects without parental consanguinity and the presence of compound heterozygote patients suggest that SRD5A2 mutations carrier frequency may be higher than previously thought.


Key words: Intersex • 5{alpha}-reductase deficiency • SRD5A2 gene • hypospadias






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