Genetic profile of rare adrenal disorder may diminish gender ambiguity

Researchers at the Icahn School of Medicine at Mt. Sinai have developed a clinical and genetic profile of steroid 11-hydroxylase deficiency, a rare form of congenital adrenal hyperplasia, which may lead to newborn screening and potential prevention of associated genital ambiguity, according to a press release from the institution.

The rare disorder is caused by deficient secretion of cortisol, which results in excessive adrenal male hormone secretion. At as early as 9 weeks of pregnancy, the excessive hormone can lead to the masculinization of the genitalia in the female fetus.

“Female infants born with this disorder may be misidentified as males and raised that way,” Maria I. New, MD, professor of pediatrics, genetics and genomic sciences and director of the adrenal steroid disorders program at the Icahn School of Medicine at Mount Sinai, said in the release. “Now that we understand much more about this disorder, we believe it will be possible to prevent an incorrect sex assignment in a fetus and avoid all of the social, cultural and sexual issues that can come from such an error.”

New and colleagues previously developed a genetic profile for the most common form of congenital adrenal hyperplasia, which led to the development of a noninvasive test for genetic mutations as early as 6 weeks of pregnancy. The test can lead to diagnosis and preventive treatment of the masculinization of the female fetus in the womb.

For steroid 11-hydroxylase deficiency, the researches studied 68 patients and identified the chromosome 8 mutations. They then examined how each mutation affected the severity of sexual ambiguity and other effects of the disorder.

“This study is a significant contribution that gives the endocrine world a detailed description of the genetics and of the clinical spectrum of 11–hydroxylase deficiency, which is treatable,” New said in the release.