Twelve persons with sexual ambiguity were identified in an isolated village in southern
Turkey. Eleven were examined and had pseudovaginal perineoscrotal hypospadias; eight …

Two distinct enzyme defects affecting androgen production and resulting in male
pseudohermaphroditism were found in a Turkish kindred from a small isolated village in the …

During a 10-year period 65 children and adolescents with ambiguous genitalia from the
Dominican Republic, not known through kindred studies of 5α-reductase deficiency, were …

The urinary 5β/5α ring A-reduced metabolites of C19 and C12 steroids from obligate carrier
parents of male) pseudohermaphrodites with 5a-reductase deficiency were analyzed by gas …

In the present study, we describe the clinical, endocrinological, psychosexual and
biochemical features of 7 Mexican male pseudohermaphrodites with primary 5α-reductase …

To investigate the enzymatic basis for abnormal steroid metabolism in subjects with male
pseudohermaphroditism due to 5α‐reductase deficiency, the ring A reduced urinary 5β and …

Two brothers of Greek Cypriot origin, karyotype 46 XY, aged 17 and 19 years were brought
up as females because of predominantly female external genitalia with clitoromegaly and …

Male pseudohermaphroditism due to 5 alpha-reductase deficiency was clinically and
biochemically described in a large Dominican kindred of 23 families with 38 affected …

The present report describes a cluster of eight patients with male pseudohermaphroditism
from a large pedigree with steroid 5 alpha-reductase 2 deficiency (5 alpha RD), who reside …

Three sibs with an inherited form of male pseudohermaphroditism are described. They were
all born with ambiguous external genitalia but no diagnosis of a possible enzyme defect was …