Cytochrome PORD

Cytochrome PORD (CPORD) is an intersex variation that effects both CTM and CTF individuals. This variation is characterized by a mutation in hormones, which causes reduced production in steroid hormones. It is unknown how common this variation is, as only 65 cases have been reported.

For those with this variation, ambiguous genitalia and infertility are common.

For CTF individuals, amenorrhea, ovarian cysts and hyperandrogenism is common. CTF individuals with this variation tend to have masculinized traits that cause irregular menstruation, acne, excessive body hair and weight gain.

For CTM individuals, AMAB hypogonadism occurs.

This variation is caused by mutations in the POR gene, which provides instructions for enzymes that play a critical role in steroid hormones. Because of this mutation, hormones such as testosterone and estrogen become very low in production and don't balance correctly within the body.

Antley-Bixler Syndrome (ABS) is a more severe version of Cytochrome PORD. The symptoms are more prominent and dramatic, and are often more obvious than CPORD. Those with this variation may or may not experience the same symptoms as CPORD, however they do have their own exclusive symptoms, including anal abnormalities, cardiac malformations, skeletal abnormalities, locked elbows, unusually long fingers, bowed thigh bones, a flattened mid-face, a prominent forehead, bulging eyes, low set ears, a closed-off nasal, intellectual disabilities and slowed development. Those who are CTF may have a closed-off vagina.

Individuals who are pregnant with children who have CPORD and/or ABS tend to develop symptoms themselves as the baby is forming. This includes development of excessive body hair, acne and a deepening voice. These changes slowly go away after the baby is delivered.