IGSF1 gene in males affected with isolated TSH deficiency” />

Create Account | Sign In: Author or Forum

 
 
News  |  Journals  |  Conferences  |  Blogs  |  Articles  |  Forums  |  Twitter    
 

 Headlines:

 

Category: Endocrinology | Pathology | Conference News

Back to Journal Articles

ATA: Mutation in X-Linked Gene Tied to Central Hypothyroidism

Last Updated: September 24, 2012.

 

Loss-of-function mutations ID'd in IGSF1 gene in males affected with isolated TSH deficiency

Share |

Comments: (0)

Tell-a-Friend

 

  Related
 
Mutations in the X-linked immunoglobulin superfamily member 1 gene, which encodes a pituitary-enriched plasma membrane glycoprotein, may play a role in central hypothyroidism, testicular enlargement, and variable prolactin deficiency, according to a study presented at the annual meeting of the American Thyroid Association, held from Sept. 19 to 23 in Montreal.

MONDAY, Sept. 24 (HealthDay News) -- Mutations in the X-linked immunoglobulin superfamily member 1 (IGSF1) gene, which encodes a pituitary-enriched plasma membrane glycoprotein, may play a role in central hypothyroidism, testicular enlargement, and variable prolactin deficiency, according to a study presented at the annual meeting of the American Thyroid Association (ATA), held from Sept. 19 to 23 in Montreal.

Noting that specific mutations in the thyrotropin-releasing hormone receptor or thyroid-stimulating hormone (TSH)b subunit genes are the only known causes of isolated TSH deficiency, which can cause central hypothyroidism, Nadia Schoenmakers, Ph.D., from the University of Cambridge in the United Kingdom, and colleagues used whole exome and candidate gene sequencing in 10 unrelated families with males exhibiting isolated TSH deficiency, testicular enlargement, and variably low serum prolactin levels.

In affected males, the researchers identified nine mutations in the IGSF1 gene. Disease-associated mutations blocked IGSF1 trafficking from the endoplasmic reticulum to the membrane, indicative of loss-of-function. Adult male IGSF1 null mice exhibited similar features of the human disorder, including decreased pituitary TSH content and circulating thyroxine levels, in addition to increased body weight and fat mass.

"IGSF1 involvement in central hypothyroidism is an important discovery because it creates inroads into our understanding of this rare syndrome, as well as new avenues by which it might be possible one day to control thyroid and testicular function," Douglas Forrest, Ph.D., program co-chair of the annual ATA meeting, said in a statement.

Abstract No. Oral 1
More Information

Copyright © 2012 HealthDay. All rights reserved.


Previous: ATA: Total, CVD Mortality Not Up With Subclinical Hyperthyroidism Next: ATA: Thyroid Cancer Presents at More Advanced Stage in Poor

Reader comments on this article are listed below. Review our comments policy.


Submit your opinion:

Name:

Email:

Location:

URL:

Remember my personal information

Notify me of follow-up comments?

advertisement.gif (61x7 -- 0 bytes)
 

Are you a Doctor, Pharmacist, PA or a Nurse?

Join the Doctors Lounge online medical community

  • Editorial activities: Publish, peer review, edit online articles.

  • Ask a Doctor Teams: Respond to patient questions and discuss challenging presentations with other members.

Doctors Lounge Membership Application

 
     

 advertisement.gif (61x7 -- 0 bytes)

 

 

Useful Sites
MediLexicon
  Tools & Services: Follow DoctorsLounge on Twitter Follow us on Twitter | RSS News | Newsletter | Contact us
Copyright © 2001-2014
Doctors Lounge.
All rights reserved.

Medical Reference:
Diseases | Symptoms
Drugs | Labs | Procedures
Software | Tutorials

Advertising
Links | Humor
Forum Archive
CME | Conferences

Privacy Statement
Terms & Conditions
Editorial Board
About us | Email

This website is certified by Health On the Net Foundation. Click to verify. This site complies with the HONcode standard for trustworthy health information:
verify here.