Kallman Syndrome

Kallman Syndrome is an intersex variation that can effect both CTM and CTF individuals. It is estimated to occur in 1 in every 30,000 AMAB individuals, and 1 in every 120,000 AFAB individuals, meaning it is more common amongst AMAB individuals.

In CTM individuals, symptoms include a micropenis, cryptorchidism, and/or AMAB hypogonadism. They may also fall under aromatase excess syndrome due to the lack of testosterone, however this is not always the case.

In CTF individuals, symptoms include lack of breast growth, unfinished puberty, lack of menstruation, and AFAB hypogonadism. They may also fall under hyperandrogenism due to the lack of estrogen, however this is not always the case.

In both CTF and CTM individuals, symptoms that may or may not occur include lack of muscle definition, a reduced or total lack of smell, neutral or complete deafness, possibility of color blindness, a missing kidney, poor coordination, hand synkinesis, a cleft lip, a split hand/foot, a shortened middle finger, and/or scoliosis. Some of the variations may classify one with this syndrome as physically disabled.

Causes
Changes in more than twenty genes have been associated with Kallmann syndrome. Among the most common causes of the variation are mutations in the ANOS1, CHD7, FGF8, FGFR1, PROK2, or PROKR2 gene. In some cases, affected individuals have mutations in more than one of these genes.

Additionally, researchers have identified mutations in other genes that may contribute to the development and features of Kallmann syndrome, but are unlikely to cause the variation on their own.

History
Kallmann Syndrome was first described by name in a paper published in 1944 by Franz Josef Kallmann, a German-American geneticist.