Navigation Links
Scientists identify new gene responsible for puberty disorders
Date:10/27/2008

AUGUSTA, Ga. A new gene responsible for some puberty disorders has been identified by Medical College of Georgia researchers.

They found that the gene mutated in CHARGE syndrome a multi-system disorder characterized by diverse problems from heart defects to hearing loss to cleft lip and palate and mental retardation also accounts for about 6 percent of two puberty disorders. These disorders idiopathic hypogonadotropic hypogonadism, or IHH, and Kallmann syndrome short circuit puberty and can cause infertility. Kallmann syndrome is also marked by patients' inability to smell.

Dr. Lawrence Layman, chief of the MCG Section of Reproductive Endocrinology, Infertility and Genetics in the School of Medicine, and colleagues published an article in the October issue of The American Journal of Human Genetics linking the diseases.

CHARGE syndrome can also impair the sense of smell and inhibit production of sex steroids and hormones, so researchers suspected a common gene.

"Thinking that IHH and Kallmann syndrome could represent a milder version of CHARGE Syndrome, we set out to study the gene in a large sample of patients diagnosed with delayed puberty but not CHARGE," Dr. Layman says.

The identified gene is called chromodomain helicase DNA binding protein 7, or CHD7. In 101 people with IHH and Kallmann syndrome, researchers found seven mutations of CHD7 that weren't present in nearly 200 healthy individuals.

"This suggests that they were mutations causing the disorder, and we also showed that most of these mutations impaired the gene's function," Dr. Layman says.

Typically, puberty begins around age 10 in boys and age 8 or 9 in girls. It starts when the hypothalamus in the brain releases more gonadotropin releasing hormone, or GnRH, which stimulates the pituitary gland to make puberty-related hormones. This prompts ovaries to produce estrogen and eggs and testes to produce testosterone and sperm.

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."


'/>"/>

Contact: Jennifer Hilliard
jhilliard@mcg.edu
706-721-8604
Medical College of Georgia
Source:Eurekalert  

Related medicine news :

1. Gladstone scientists identify role of fatty acids in Alzheimers disease
2. Scientists Hot on Trail of New Antibiotics
3. Scientists close in on method to fight deadly childhood cancer
4. NIH scientists discover crucial control in long-lasting immunity
5. New Site Launched for Families and Scientists to Discuss Stem Cell Research (US)
6. 2 UCSF scientists recognized for transformative research
7. Scientists take cancer research back to the basic molecular level
8. Rice political scientists co-author report on ethnic/racial aspects of Taser use by Houston police
9. Scientists produce nanoscale droplets with cancer-fighting implications
10. Scientists find second site for prostate cancer gene
11. Scientists Track Hourly Changes in Alzheimers Protein
Post Your Comments:
*Name:
*Comment:
*Email:
Related Image:
Scientists identify new gene responsible for puberty disorders
(Date:6/25/2016)... ... June 25, 2016 , ... ... and applications at AcademyHealth’s Annual Research Meeting June 26-28, 2016, at the Hynes ... important health care topics including advance care planning, healthcare costs and patient and ...
(Date:6/25/2016)... ... 2016 , ... The temporary closing of Bruton Memorial Library on June 21 due to a ... new, often overlooked aspect of head lice: the parasite’s ability to live away from a ... occurrence, but a necessary one in the event that lice have simply gotten out of ...
(Date:6/25/2016)... Lewisville, TX (PRWEB) , ... June 25, 2016 , ... ... in the United States, named Dr. Sesan Ogunleye, as the Medical Director of its ... be the facility Medical Director of our new Mesquite location,” said Dr. James M. ...
(Date:6/25/2016)... ... June 25, 2016 , ... Dr. Calvin Johnson has dedicated ... has implemented orthobiologic procedures as a method for treating his patients. The procedure ... doctors to perform the treatment. Orthobiologics are substances that orthopaedic surgeons use to ...
(Date:6/25/2016)... ... June 25, 2016 , ... Conventional wisdom preaches the benefits of moderation, ... the latter, setting the bar too high can result in disappointment, perhaps even self-loathing. ... toward their goal. , Research from PsychTests.com reveals that behind the ...
Breaking Medicine News(10 mins):
(Date:6/24/2016)... SAN CLEMENTE, Calif. , June 24, 2016  American ... function testing company, is now able to perform sophisticated lung assessments ... ndd Medical Technologies , Inc. Patients are no ...  Thanks to ndd,s EasyOne PRO ® , ARL patients like Jeanne ... needed testing done in the comfort of her own home. ...
(Date:6/24/2016)... , Belgium , June ... MKT: VNRX), today announced the appointment of Dr. ... of Directors as a Non-Executive Director, effective June ... Company,s Audit, Compensation and Nominations and Governance Committees.  ... Dr. Futcher will provide independent expertise and strategic ...
(Date:6/23/2016)... , June 23, 2016 Any dentist who ... challenges of the current process. Many of them do not ... the technical difficulties and high laboratory costs involved. And those ... offer it at such a high cost that the majority ... Dr. Parsa Zadeh , founder of Dental ...
Breaking Medicine Technology: