Document
Male pseudohermaphroditism due to 5α-reductase-2 deficiency in an Arab kindred.
Identifier
DOI: 10.1136/pgmj.73.866.802
Source
Postgraduate Medical Journal. v. 73, 866, p. 802-807
Country
United Kingdom.
City
London
Publisher
BMJ Publishing Group.
Gregorian
1997-12-01
Language
English
Subject
English abstract
Six Arabs subjects (three postpubertal, two prepubertal and one pubertal) from three interrelated Omani families with male pseudohermaphroditism due to 5α-reductase-2 deficiency were evaluated. These subjects had been raised as girls since birth as they were born with a clitoral-like phallus and ambiguous external genitalia of pseudovaginal perineoscrotal hypospadias with separate urethral and vaginal orifices. They underwent variable degrees of increased muscular habitus and phallic enlargement during puberty and beyond. Gynaecomastia was absent and the body and facial hair was insignificant. After diagnosis, a transition to male social sex occurred in two cases, one of which was interventional. Two retained the female social sex, one of which was also interventional, while the other two maintained an equivocal gender status. This report provides new data on the characterisation of 5α-reductase-2 deficiency in various clusters.
ISSN
0032-5473
Category
Journal articles