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Pseudovaginal Perineoscrotal Hypospadias

Known as: PPSH, Familial Incomplete Male Pseudohermaphroditism, Type 2, 5 Alpha Steroid Reductase 2 Deficiency 
An autosomal recessive inherited disorder caused by mutations in the SRD5A2 gene. It is characterized by deficiency of the enzyme steroid 5-alpha… Expand
National Institutes of Health

Papers overview

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2003
2003
Hypospadias, when the urethral opening is located on the ventral side of the penis, is one of the most common congenital… Expand
Highly Cited
1996
Highly Cited
1996
Mutations in the coding sequence of the androgen receptor (AR) gene result in a wild range of androgen insensitivity (AI… Expand
Highly Cited
1990
Highly Cited
1990
To elucidate the role of the testis in the control of LH and FSH secretion before puberty, we examined pulsatile LH and FSH… Expand
Highly Cited
1988
Highly Cited
1988
Continuing controversy surrounding the Dominican Republic studies of 5-α-reductase deficiency and the development of gender… Expand
Highly Cited
1977
Highly Cited
1977
A new inherited form of male pseudohermaphroditism has been investigated in a pedigree of 24 families with 38 affected males. At… Expand
Highly Cited
1976
Highly Cited
1976
Dihydrotestosterone binding was measured in culture fibroblasts from 14 control subjects and from 12 patients with five different… Expand
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Highly Cited
1975
Highly Cited
1975
The activity of 5alpha-reductase, the enzyme that converts testosterone to dihydrotestosterone, has been assessed in cell-free… Expand
Highly Cited
1974
Highly Cited
1974
Abstract Two 46 XY siblings with familial incomplete male pseudohermaphroditism, Type 2, inherited as an apparent autosomal… Expand
Highly Cited
1972
Highly Cited
1972
Familial male pseudohermaphroditism represents a group of clinically and genetically heterogeneous conditions. The “complete” or… Expand
1971
1971
Pseudovaginal perineoscrotal hypospadias (PPSH) is a descriptive name applied to a specific developmental disorder of sexual… Expand