Gonadal Agenesis

Gonadal Agenesis, Agonadal, Anorchia or Agonadism is a rare form of intersex in which one does not develop gonads (testes, ovaries, or ovotestes) during fetal development. In true agonadism one is born without testes, ovaries, ovotestes, and does not have any gonadal tissue at all. In most cases on agonadism the person has XY chromosomes (though cases with XX chromosomes have been reported) and always has female internal genitals. They may or may not have a uterus or other internal structures, these may or may not be fully developed. Due to the lack of gonads people with this condition will not go through puberty without hormone replacement therapy.

Subsets of this condition may include penile agenesis (testicular agenesis/hypogenesis), ovarian agenesis (congenital aplasia of the ovaries) and/or Müllerian agenesis (vulvarian/vulvovaginal atresia, vulval/genital aplasia/vulvar hypoplasia or Mayer–Rokitansky–Küster–Hauser syndrome (MRKH), which is vaginal, uterine or uterovaginal agenesis). It is not to be confused with aphallia. It often overlaps with agenital conditions, and shares some of the same condition subsets.

History
The first case (at least for ovarian agenesis) appears to have been in January 2002, first being discovered with a seventeen-year-old AFAB patient who had a lack of mammary development and primary amenorrhea.

Resources

 * https://www.sciencedirect.com/topics/medicine-and-dentistry/gonadal-agenesis
 * https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-6-9
 * https://www.ncbi.nlm.nih.gov/medgen/120574
 * https://www.ncbi.nlm.nih.gov/medgen/452348
 * https://pubmed.ncbi.nlm.nih.gov/11779614/