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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… 
National Institutes of Health

Related topics

Related topics

19 relations

Broader (6)

46, XY Disorders of Sex Development5-Alpha Reductase DeficiencyAdrenogenital SyndromeHypospadias
Achard-Thiers syndromeAmbiguous GenitaliaAutosomal recessive inheritanceBifid scrotum

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2005
2005
A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family.
2003
2003
A novel duplication in the HOXA13 gene in a family with atypical hand-foot-genital syndrome
Hypospadias, when the urethral opening is located on the ventral side of the penis, is one of the most common congenital… 
Highly Cited
1990
Highly Cited
1990
Gonadal control of pulsatile secretion of luteinizing hormone and follicle-stimulating hormone in prepubertal boys evaluated by ultrasensitive time-resolved immunofluorometric assays.
To elucidate the role of the testis in the control of LH and FSH secretion before puberty, we examined pulsatile LH and FSH… 
Highly Cited
1988
Highly Cited
1988
The sambia “turnim-man”: Sociocultural and clinical aspects of gender formation in male pseudohermaphrodites with 5-alpha-reductase deficiency in Papua New Guinea
Continuing controversy surrounding the Dominican Republic studies of 5-α-reductase deficiency and the development of gender… 
1986
1986
Familial male pseudohermaphroditism due to 5-alpha-reductase deficiency in a Turkish village.
Highly Cited
1977
Highly Cited
1977
Male pseudohermaphroditism due to steroid 5-alpha-reductase deficiency.
A new inherited form of male pseudohermaphroditism has been investigated in a pedigree of 24 families with 38 affected males. At… 
Highly Cited
1976
Highly Cited
1976
Dihydrotestosterone binding by cultured human fibroblasts. Comparison of cells from control subjects and from patients with hereditary male pseudohermaphroditism due to androgen resistance.
Dihydrotestosterone binding was measured in culture fibroblasts from 14 control subjects and from 12 patients with five different… 
Highly Cited
1975
Highly Cited
1975
Diminished 5alpha-reductase activity in extracts of fibroblasts cultured from patients with familial incomplete male pseudohermaphroditism, type 2.
Highly Cited
1972
Highly Cited
1972
Pseudovaginal perineoscrotal hypospadias
Familial male pseudohermaphroditism represents a group of clinically and genetically heterogeneous conditions. The “complete” or… 
1971
1971
Pseudovaginal perineoscrotal hypospadias (PPSH) in sibs.
Pseudovaginal perineoscrotal hypospadias (PPSH) is a descriptive name applied to a specific developmental disorder of sexual… 
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