A gene, chromodomain helicase DNA binding protein 7 or CHD7, that is behind many of the puberty-related complications by researchers from the Medical College of Georgia.

It was identified by the research team that this gene is able to get mutated in a multi-system complication distinguished by complications like mental retardation and loss of hearing, which is known as the CHARGE 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.”

This syndrome has an impairment effect on the sense of smell and can easily prevent the production of sex steroids and hormones.