[5alpha-reductase type 2 deficiency: experiences from Campinas (SP) and Salvador (BA)].
OBJECTIVE
To report the experience regarding patients with steroid 5alpha-reductase type 2 deficiency from three different clinical services in Brazil.


METHODS
Twenty five patients with clinical and hormonal features of 5alpha-reductase deficiency from 23 families (15 from Bahia, 7 from São Paulo and 1 from Minas Gerais) were included in this study. Clinical, hormonal and molecular data were evaluated. The molecular analysis of the five exons of the SRD5A2 gene was done by automatic or manual sequencing of PCR products.


RESULTS
In ten families, SRD5A2 mutations were found in homozygosis (5 with G183S, 2 with R246W, 1 with G196S, 1 with del642T, 1 with 217_218insC), in three in compound heterozygosis (1 with Q126R/IVS3+1G>A, 1 with Q126R/del418T, 1 with Q126R/G158R) while other three were heterozygous, with only one deleterious mutation (1 with G196S, 1 with A207D, and 1 with R246W). In seven cases, no sequencing abnormalities were detected. The G183S substitution was the most frequently found among miscegenated patients (Afro-Euro-Brazilians) from Bahia. Hormonal and clinical findings did not differ between patients with or without mutations, exception made to a higher frequency of consanguinity and greater severity of genital ambiguity in the first group.


CONCLUSIONS
Our results reinforce the importance of molecular investigation for the diagnosis of this disease and point out to the finding of a very frequent mutation (G183S) in our series, especially in patients with mixed ethnic background from Bahia, and the description of mutations that have only been reported in Brazilian patients so far.
Hackel
Christine
C
Departamento de Genética Médica, FMUFBA, Salvador, BA. hackel@unicamp.br
Oliveira
Luiz Eduardo C de
LE
Toralles
Maria Betania
MB
Nunes-Silva
Daniela
D
Tonini
Maria Manuela O
MM
Ferraz
Lúcio Fábio Caldas
LF
Steinmetz
Leandra
L
Damiani
Durval
D
Oliveira
Laurione Cândido de
LC
Maciel-Guerra
Andréa T
AT
Stuchi-Perez
Eliana Gabas
EG
Guerra-Júnior
Gil
G
D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000172:deficiency* / Q000235:genetics; D000293:Adolescent; D000328:Adult; D001938:Brazil; D002648:Child; D002675:Child, Preschool; D012734:Disorders of Sex Development / Q000201:enzymology* / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation
D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase; C476567:steroid-5alpha-reductase type 2