Featured Research

from universities, journals, and other organizations

The More Mutations, The Worse The Disease In Idiopathic Hypogonadotropic Hypogonadism

Date:
January 22, 2007
Source:
Journal Of Clinical Investigation
Summary:
Idiopathic hypogonadotropic hypogonadism (IHH) is an inherited genetic disorder that results in impaired sexual development due to a deficiency in a sex hormone known as GnRH. Although individuals are thought to inherit IHH by having just one gene defect (in any one of a number of genes), not all the evidence supports this hypothesis, for example, not all family members with a given gene defect have the same symptoms.

Idiopathic hypogonadotropic hypogonadism (IHH) is an inherited genetic disorder that results in impaired sexual development due to a deficiency in a sex hormone known as GnRH.

Related Articles


Although individuals are thought to inherit IHH by having just one gene defect (in any one of a number of genes), not all the evidence supports this hypothesis, for example, not all family members with a given gene defect have the same symptoms.

In a study that appears online on January 18 in advance of publication in the February print issue of the Journal of Clinical Investigation, Nelly Pitteloud and colleagues from Massachusetts General Hospital in Boston show that in two separate families with distinct forms of IHH (Kallman syndrome and normosmic IHH, respectively) different combinations of several gene defects result in different disease symptoms.

In the first family, the individual with the most severe phenotype had mutations in two different genes (FGFR1 and NELF). By contrast, his parents and siblings with only one or other of the mutations exhibited less severe disease. Similarly, in the second family, the most severely affected individual had 2 mutations in her GNRHR genes and 1 mutation in her FGFR1 gene, whereas the less severely affected family members did not have all 3 genetic mutations.

This study indicates that IHH is not caused by a defect in a single gene, something that has implications for the genetic counseling of IHH.

Reference: Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism (https://www.the-jci.org/article.php?id=29884)


Story Source:

The above story is based on materials provided by Journal Of Clinical Investigation. Note: Materials may be edited for content and length.


Cite This Page:

Journal Of Clinical Investigation. "The More Mutations, The Worse The Disease In Idiopathic Hypogonadotropic Hypogonadism." ScienceDaily. ScienceDaily, 22 January 2007. <www.sciencedaily.com/releases/2007/01/070118182045.htm>.
Journal Of Clinical Investigation. (2007, January 22). The More Mutations, The Worse The Disease In Idiopathic Hypogonadotropic Hypogonadism. ScienceDaily. Retrieved April 19, 2015 from www.sciencedaily.com/releases/2007/01/070118182045.htm
Journal Of Clinical Investigation. "The More Mutations, The Worse The Disease In Idiopathic Hypogonadotropic Hypogonadism." ScienceDaily. www.sciencedaily.com/releases/2007/01/070118182045.htm (accessed April 19, 2015).

Share This


More From ScienceDaily



More Health & Medicine News

Sunday, April 19, 2015

Featured Research

from universities, journals, and other organizations


Featured Videos

from AP, Reuters, AFP, and other news services

Our Love Of Puppy Dog Eyes Explained By Science

Our Love Of Puppy Dog Eyes Explained By Science

Newsy (Apr. 17, 2015) Researchers found a spike in oxytocin occurs in both humans and dogs when they gaze into each other&apos;s eyes. Video provided by Newsy
Powered by NewsLook.com
Dr. Oz Under Fire For 'Quack Treatments' Yet Again

Dr. Oz Under Fire For 'Quack Treatments' Yet Again

Newsy (Apr. 17, 2015) Ten doctors signed a letter urging Columbia University to drop Dr. Oz as vice chair of its department of surgery, saying he plugs "quack" treatments. Video provided by Newsy
Powered by NewsLook.com
Scientists Find Link Between Gestational Diabetes And Autism

Scientists Find Link Between Gestational Diabetes And Autism

Newsy (Apr. 17, 2015) Researchers who analyzed data from over 300,000 kids and their mothers say they&apos;ve found a link between gestational diabetes and autism. Video provided by Newsy
Powered by NewsLook.com
Video Messages Help Reassure Dementia Patients

Video Messages Help Reassure Dementia Patients

AP (Apr. 17, 2015) Family members are prerecording messages as part of a unique pilot program at the Hebrew Home in New York. The videos are trying to help victims of Alzheimer&apos;s disease and other forms of dementia break through the morning fog of forgetfulness. (April 17) Video provided by AP
Powered by NewsLook.com

Search ScienceDaily

Number of stories in archives: 140,361

Find with keyword(s):
Enter a keyword or phrase to search ScienceDaily for related topics and research stories.

Save/Print:
Share:

Breaking News:

Strange & Offbeat Stories


Health & Medicine

Mind & Brain

Living & Well

In Other News

... from NewsDaily.com

Science News

Health News

Environment News

Technology News



Save/Print:
Share:

Free Subscriptions


Get the latest science news with ScienceDaily's free email newsletters, updated daily and weekly. Or view hourly updated newsfeeds in your RSS reader:

Get Social & Mobile


Keep up to date with the latest news from ScienceDaily via social networks and mobile apps:

Have Feedback?


Tell us what you think of ScienceDaily -- we welcome both positive and negative comments. Have any problems using the site? Questions?
Mobile: iPhone Android Web
Follow: Facebook Twitter Google+
Subscribe: RSS Feeds Email Newsletters
Latest Headlines Health & Medicine Mind & Brain Space & Time Matter & Energy Computers & Math Plants & Animals Earth & Climate Fossils & Ruins