Family Med Journals

Family Med

sponsor
Become a Member Today!
Register
Email:


Password:

Remember me
Forgot your Password?
Invite Code?
Article ID

Your Article Summary

(Click the title below to leave the MDLinx Network and go to the Journal's Website)

Bouligand J et al. - The authors identified a homozygous GNRH1 frameshift mutation, an insertion of an adenine at nucleotide position 18 (c.18-19insA), in the sequence encoding the N-terminal region of the signal peptide–containing protein precursor of gonadotropin-releasing hormone (prepro-GnRH) in a teenage brother and sister, who had normosmic IHH. This mutation results in an aberrant peptide lacking the conserved GnRH decapeptide sequence, as shown by the absence of immunoreactive GnRH when expressed in vitro. This isolated autosomal recessive GnRH deficiency, reversed by pulsatile GnRH administration, shows the pivotal role of GnRH in human reproduction.

Related Articles

Hypogonadism Risk in Men Treated for Childhood Cancer
Internet Source, 11/05/09    Relevance Score: 90%

Hypogonadism Risk in Men Treated for Childhood Cancer
Journal of Clinical Endocrinology and Metabolism, 10/12/09    Relevance Score: 88%

Hypogonadism in men with erectile dysfunction may be related to a host of chronic illnesses
International Journal of Impotence Research, 10/02/09    Relevance Score: 83%

Outcome of gonadotropin therapy for male infertility due to hypogonadotrophic hypogonadism
Pituitary, 10/29/09    Relevance Score: 82%

Impaired Fibroblast Growth Factor Receptor 1 Signaling as a Cause of Normosmic Idiopathic Hypogonadotropic Hypogonadism
Journal of Clinical Endocrinology and Metabolism, 10/15/09    Relevance Score: 82%

Today in Basic Science/Genetics...keeping you current

Increased Cold-Pain Thresholds in Major Depression
The Journal of Pain, 12/02/09

Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data
The Lancet - Early Online Publication, 12/02/09

Differential epigenomic and transcriptomic responses in subcutaneous adipose tissue between low and high responders to caloric restriction
American Journal of Clinical Nutrition, 12/02/09

Today in Men`s Health...keeping you current

Guideline update: What's the best approach for screening asymptomatic men for prostate cancer?
The Journal of Family Practice, 12/02/09

A patient recall program to enhance decisions about prostate cancer screening: A feasibility study
BMC Family Practice, 12/02/09

Effect of transurethral resection of the prostate on erectile function: a prospective comparative study
International Journal of Impotence Research, 12/02/09


Sponsor

Article Search

Keyword:

Search:

Published within

Sort By:
Date
Relevance


Sponsor

Sponsor

Send this Summary to a Colleague

Enter email address