Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis (POR deficiency) is a congenital (present at birth) disease involving problems with steroidogenesis. Steroidogenesis is the process of turning cholesterol into hormonal steroids like androgen and estrogen. Symptoms of this condition may include craniosynostosis (misshaped skull), hydrocephalus (fluid in the brain), face defects, skeletal defects like bowed legs or clubfeet, kidney defects, and some cognitive impairment.
POR deficiency is linked to cortisol deficiency, or lack of the hormone cortisol in the body. Individuals with cortisol deficiency may have both male and female genitals, oversized ovaries, amenorrhea (no menstrual cycle), or low development of masculine traits during puberty (for males). In addition, affected individuals may present with disordered sex development at birth, which means that female and male genitalia may be underdeveloped or not present as they normally would.
POR deficiency is a genetic condition due to mutations (changes) in the POR gene. This condition is inherited in an autosomal recessive manner. Autosomal recessive means that an individual must have two copies of the changed gene or mutation that causes the condition. A person with one changed gene would be a carrier of the condition but usually will not have any symptoms. If both parents are carriers of the condition, each child has a one in four chance (25%) of having the disease.
This condition can be diagnosed through looking at levels of different steroids in the urine, by looking at the activity of specific proteins in the body, and by genetic testing. Usually, hormone replacement therapy is the main treatment. If you or a family member has been diagnosed with POR deficiency, talk to your doctor about the most current treatment options. Support groups are also a good source of information.
Description Last Updated: Mar 07, 2018