Molecular diagnosis of 5alpha-reductase-2 gene mutation in two Indian families with male pseudohermaphroditism.
OBJECTIVE
To identify the genotype of two Indians with male pseudohermaphroditism.


METHODS
Standard radioimmunoassay procedure was used for estimating hormonal levels. Conventional cytogenetic analysis was carried out for diagnosing the genetic sex in these subjects with genital ambiguity. Molecular analysis was carried out by standard polymerase chain reaction procedure using different sets of primers and reaction conditions specific for the 5alpha-reductase type 2 gene (SRD5A2) gene. Direct sequencing was carried out using the ABI Prism dye terminator sequencing kit and the ABI 310 sequencing apparatus.


RESULTS
We found an SRD5A2 gene mutation in exon 5, where arginine is substituted with glutamine (R246Q), in two males with pseudohermaphroditism and ambiguous genitalia from unrelated families. This is the first time this mutation has been reported in individuals from India.


CONCLUSIONS
Identification of the R246Q mutation of the SRD5A2 gene from two unrelated Indian families possibly extends the founder gene effect.
Eunice
Marumudi
M
Department of Endocrinology and Metabolism, All India Institute of Medical Sciences, New Delhi 110029, India.
Philibert
Pascal
P
Kulshreshtha
Bindu
B
Audran
Francoise
F
Paris
Francoise
F
Khurana
Madan L
ML
Pulikkanath
Praveen E
PE
Kucheria
Kiran
K
Sultan
Charles
C
Ammini
Ariachery C
AC
D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000235:genetics*; D002648:Child; D013196:Dihydrotestosterone / Q000097:blood; D012734:Disorders of Sex Development / Q000235:genetics* / Q000473:pathology*; D005192:Family Health; D005640:Follicle Stimulating Hormone / Q000097:blood; D018703:Founder Effect; D005837:Genitalia, Male / Q000002:abnormalities; D006801:Humans; D007021:Hypospadias / Q000235:genetics / Q000473:pathology; D007194:India; D007986:Luteinizing Hormone / Q000097:blood; D008297:Male; D020125:Mutation, Missense; D013739:Testosterone / Q000097:blood
D013196:Dihydrotestosterone; D013739:Testosterone; D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone; D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase