Definitions of other Sexual or Reproductive syndromes:<!doctype html public "-//w3c//dtd html 4.0 transitional//en">


Androgen Insensitivity Syndrome (AIS, formerly testicular feminization):    (Chromosomally XY) develops when fetus is insensitivity to testosterone,. They develop external anatomy that is typically female, but internal reproductive tract is not typical for either gender.

Partial AIS: Like AIS, but with reduced sensitivity to androgens. Child may partially virilize at puberty.

Congenital Adrenal Hyperplasia- (CAH- or Adrenogenital Syndrome):  occurs when adrenal glands cause excessive secretion of androgens during fetal life. Genitals of female children are masculinized to a variable degree.

Intersex : (Unfortunately referred to as Disorders of Sex Development) includes all chromosome combinations - XX, XY and dozens of  variations. In general intersex includes anyone whose genital or reproductive anatomy does not fit the medical definition of 'normal male' or 'normal female'.

Klinefelter's Syndrome  “Genetic males”  with one or more extra X chromosomes (XXY, XXXY). 

Mayer-Rokitansky-Kuster-Hauser Syndrome (MRKH):  Variation of female reproductive development.  MRKH often involves missing vagina, cervix, uterus and fallopian tubes in genetic females. Uterine remnants are common with people who have MRKH.

MURCS is a rare and complex version of MRKH. Not all women with MRKH have MURCS, but ALL MURCS patients have MRKH. The "MU" stands for Mullerian duct aplasia (the missing vagina / uterus: it's the MRKH part). The "R" stands for Renal Aplaisa or the kidney problems like a missing kidney, ectopic (commonly known as pelvic kidney). The "CS" stands for "Cervicothoracic Somite" association. Go to the PUBMED  link to search PUBMED for articles about MURCS.

Turner's Syndrome  People with Turners have one X and no Y chromosome, (XO).   Symptoms include short stature and lack of secondary sexual characteristics. TS occurs in approximately 1 of 2,000 female's born and in as many as 10% of all miscarriages.

Vaginal agenesis: Agenesis basically means “failure to form,”  but we don’t believe in using the word failure when describing  human development.  Vaginal agenesis is related to a number of syndromes including MRKH, AIS, CAH  and others.




Jan 2010