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Aurora magazine

Researchers find cause of gender ambiguity in a genetic disorder

A rare genetic disorder of the adrenal gland cause genital masculinization in females. She found a team from the School of Medicine Icahn, who made a full clinical and genetic profile of the 11 beta-hydroxylase deficiency. The discovery could lead to a new prenatal screening test, to carry out a treatment that prevents genital ambiguity.

The 11 beta-hydroxylase deficiency is a rare form of congenital adrenal hyperplasia. It causes a deficiency in the secretion of cortisol, resulting in excessive secretion of the male adrenal. Around the 9th week of pregnancy, the phenomenon interferes with the development of the genitalia of female fetuses. The interference causes masculinization of the female genitals, resulting in genital ambiguity.
The genetic disorder affecting 1 in 100,000 in the United States. The team collected data from 108 patients with deficits of 11 beta-hydroxylase, discovering a greater occurrence among those who come from countries where there is combined inbreeding. The fact causes a recessive gene, that the sick person has inherited from both parents.

The researchers identified an abnormality of chromosome 8, the enzyme responsible for precisely 11 beta-hydroxylase. They then examined how each determinasse mutation in patients greater or lesser severity of genital ambiguity. They also identified other disorders caused by this kind of mutations, such as hypertension and abnormal maturation of the skeleton. The study also made it possible to examine the effects of the deficit on the males, which often go unnoticed.

Dr. New and his team have developed a test for the non-invasive prenatal diagnosis of the disorder. You can use the test from the 6th week of pregnancy, from a single drop of maternal blood. The test identifies the deficit of 11 beta-hydroxylase, allowing you to proceed with a dedicated drug treatment. In this way it prevents the masculinization of the genitals of the fetus in the same womb.