Puberty disorder promoting gene identified

Researchers from the Medical College of Georgia have been able to identify as chromodomain helicase DNA binding protein 7, or CHD7. This is a gene that is considered to be responsible for a large number of the complications linked with puberty.

It was found by the researchers that the gene is mutated in the CHARGE syndrome. The syndrome is a a multi-system complication characterized by many problems such as hearing loss and mental retardation. The two disorders were noted as idiopathic hypogonadotropic hypogonadism (IHH) and Kallmann syndrome.

From News-Medical.Net:

Pubertal disorders, Dr. Layman says, often begin long before that chain of events begins.

He traces the defects to gestation, when neurons linked to reproduction and sense of smell fail to reach their destination together.

"While the discovery of additional genes involved in pubertal disorders is significant, we only know the cause for about one-third of all affected patients," says Hyung-Goo Kim, molecular geneticist in the Institute of Molecular Medicine and Genetics and the study's first author. "We know now that CHD7, only the second gene identified as a cause for IHH and Kallmann Syndrome, is a common culprit."

"There is still work to be done," says Dr. Layman, corresponding author. "But this work is important because it gives us cause for genetic counseling on patients with these mutations. And because these findings suggest that IHH and Kallmann Syndrome are mild variants of CHARGE, it also prompts us to look more carefully for heart problems, hearing loss and cleft lip/palate in patients with pubertal abnormalities."

The study also noted that CHARGE syndrome can have a possible impairment impact on the smell sense besides inhibiting sex steroid and hormone production.