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.

This often overlaps with agenital conditions, and shares some of the same condition subsets. This condition may also cause one to fall under the secondary sex agenesis spectrum.

Subsets of this condition include:


 * Testicular agenesis/hypogenesis: when one is born without testicles, without a single testicle. They may also be born without a penis at all.
 * Ovarian agenesis (congenital aplasia of the ovaries): when one is born without ovaries, or with little to no ovaries. They may or may not have a uterus as well.

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/