Pseudohermaphroditism

Pseudohermaphroditism - ErinMoseley Pseudohermaphroditism -...

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Erin Moseley
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  Pseudohermaphroditism - Male (MPH)  Incomplete masculinization of the external genitalia  in     a male (46XY) karyotype.   If the testes form only partially and the production of  androgen and Mullerian inhibitor is incomplete,  there will be only partial masculinization of the  external genitalia as well as incomplete inhibition  of  the development of the vagina, uterus, and  Fallopian  tubes.    
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           Pseudohermaphroditism - Male  A rare autosomal recessive disorder of genetic (XY) males.  Ambiguous external genitalia appearing in adolescence.                       - Characterized by a clitoris-like phallus, bifid  scrotum,      and urogenital sinus with a blind vaginal  pouch. -Testes are undescended pre-pubescently,  are     usually located in the abdomen, inguinal canals, or     scrotal folds.  Causes initial misdetermination of sex at birth.
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The gonads are testicles which are usually retained. The  tubular components are basically female. The external  genitalia are mainly of the female type with an enlarged  clitoris, or may be vestigial penile development.
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Pseudohermaphroditism - Female Pseudohermaphroditism - Female   A virilized female Masculinization of the external genitalia by an  abnormal source of androgen Internal genitalia are normal, such as the vagina  and uterus.
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The gonads are ovaries and the  accessory sex organs are predominantly  male
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 Male chromosomes -- X,Y   High testosterone and luteinizing hormone level in blood   Low or absent sperm count   Testicular biopsy shows no mature sperm despite normal precursors   Decreased or absent vas deferens (the tubes through which sperm exit the         testes)  Partial development of female gonads/sex organs   Decreased ability to bind androgen in cell culture tests   Mutations in the androgen receptor gene  Family history of affected males who share a common, unaffected female  relative consistent with X-linked recessive inheritance
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Abnormal male genitalia, including undescended  testes; scrotum that is small, with a line down the  middle (bifid) or incompletely closed; small penis and  hypospadias (penis tethered to underlying skin)  Breast development in males at time of puberty  Lack of fertility  Decreased body hair and beard with normal pubic and  armpit hair
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 This disease is one of a spectrum of diseases that are due to      loss of normal response to the male sex hormones, called  androgens (of which testosterone is the best known). In this  genetic disease, the affected gene codes for the androgen 
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This note was uploaded on 12/24/2011 for the course STEP 1 taught by Professor Dr.aslam during the Fall '11 term at Montgomery College.

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Pseudohermaphroditism - ErinMoseley Pseudohermaphroditism -...

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