male pseudohermaphroditism


Also found in: Dictionary, Thesaurus, Acronyms, Encyclopedia.
Related to male pseudohermaphroditism: Female pseudohermaphroditism

male pseu·do·her·maph·ro·dit·ism

[MIM*261550, MIM*264300, MIM*312100]
pseudohermaphroditism in which the gonads are male and the karyotype is XY but with genital anomalies.

male pseudohermaphroditism

A type of intersex in which the gonads are exclusively testes, which are present but cryptorchid (i.e., not present in the scrotum), and the genital ducts and/or external genitalia are incompletely masculinised—i.e., a 46,XY male genotype with a feminine phenotype.

Clinical findings
The phallus is either very small or there is severe hypospadias; the testes may not have descended in the scrotum, resulting in ambiguity on examination.

Pathogenesis
MP may be caused by defects during sexual differentiation; testosterone production is inadequate (due to decreased LH or hCG receptors on Leydig cells); patients are raised as females (Morris syndrome) and may have CNS defects (e.g., defective gonadotropin response), primary gonadal defects (e.g., idiopathic, defective pregnanediol (3-beta 17-alpha, 17,20-des-17 beta) synthesis, regression of Müllerian  tubes, Leydig cell agenesis, androgen insensitivity); increased risk of breast cancer, Sertoli adenoma, germinoma in situ, seminoma and Leydig cell tumours.

male pseudohermaphroditism

Endocrinology A type of intersex in which the testes are present and cryptorchid–ie, 46,XY–male genotype and female phenotype; '…a heterogeneous condition in which the gonads
are exclusively testes, but the genital ducts and/or external genitalia are incompletely masculinized'
Clinical The phallus is either very small or there is severe hypospadias; the testes may not have descended in the scrotum, resulting in ambiguity on examination; MP may be caused by defects during sexual differentiation; testosterone production is inadequate–due to ↓ LH or hCG receptors on Leydig cells; Pts are raised as ♀–Morris syndrome and may have CNS defects–eg, defective gonadotropin response, primary gonadal defects–eg, idiopathic, defective pregnanediol–3-β 17-α, 17,20-des-17 β synthesis, regression of müllerian tubes, Leydig cell agenesis, androgen insensitivity, ↑ risk of breast CA, Sertoli adenoma, germinoma in situ, seminoma, Leydig cell tumor. See Intersex disorder. Cf Male hermaphroditism.

male pseudohermaphroditism

A condition in a male marked by a small penis, perineal hypospadias, and scrotum without testes, thereby resembling the vulva. This condition can be due to disease of the adrenal gland or a feminizing tumor of the undescended testis.
References in periodicals archive ?
A novel missense mutation of 5-alpha reductase type 2 gene (SRD5A2) leads to severe male pseudohermaphroditism in a Turkish family.
Mixed gonadal dysgenesis and dysgenetic male pseudohermaphroditism. J Urol.
See also Kupfer, Quigley, and French, "Male Pseudohermaphroditism," p.
Gender assignment in male pseudohermaphroditism: an Indian perspective.
INTRODUCTION: Androgen insensitivity (testicular feminization) syndrome is a rare inherited form of male pseudohermaphroditism that occurs in phenotypically normal woman with adequate breast development, normal external genitalia, a vagina of variable depth, absent uterus, and sparse or absent pubic hair and axillary hair.
Smith-Lemli-Opitz syndrome-type II: multiple congenital anomalies with male pseudohermaphroditism and frequent early lethality.