Sex
Male Pseudohermaphroditism
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Male Pseudohermaphroditism
Pathophysiology
Karyotype is 46XY
Causes
Testicular Dysgenesis
Associated with degenerative renal disease
Disorders of androgen synthesis
Leydig cell hypoplasia
Abnormal
Cholesterol
transport
Deficiencies of steroidogenic
Enzyme Activity
Abnormal androgen receptor
Maternal
Estrogen
s or
Progestin
s
Eponymic syndromes
Persistent Mullerian Duct syndromes
Vanishing
Testes
Syndromes
Signs
External and internal genitalia are ambiguous
Incompletely masculinized
Gonads recognizable as
Testes
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