help button home button Endocrine Society JCEM
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
This Article
Right arrow Full Text (PDF)
Right arrow Submit a related Letter to the Editor
Right arrow Purchase Article
Right arrow View Shopping Cart
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow Request Copyright Permission
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Acierno, J. S.
Right arrow Articles by Seminara, S. B.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Acierno, J. S., Jr.
Right arrow Articles by Seminara, S. B.
The Journal of Clinical Endocrinology & Metabolism Vol. 88, No. 6 2947-2950
Copyright © 2003 by The Endocrine Society

Rapid Communication

A Locus for Autosomal Recessive Idiopathic Hypogonadotropic Hypogonadism on Chromosome 19p13.3

James S. Acierno Jr., Jenna K. Shagoury, Yøusef Bo-Abbas, William F. Crowley Jr. and Stephanie B. Seminara

Reproductive Endocrine Unit (S.B.S., J.S.A., J.K.S., W.F.C.), Massachusetts General Hospital, Boston, Massachusetts; and Faculty of Medicine (Y.B.), Kuwait University, Kuwait

Address correspondence to: Stephanie B. Seminara, M.D., Reproductive Endocrinology Unit, Massachusetts General Hospital, Bartlett Hall Extension 505, 55 Fruit Street, Boston, Massachusetts 02114.

Abstract

Idiopathic hypogonadotropic hypogonadism (IHH) is traditionally established by 1) the absence of spontaneous pubertal development by age 18 yr and 2) low sex steroids with inappropriately low gonadotropins in the absence of any functional or anatomic cause. To identify a novel disease locus for IHH, a genome wide scan was performed on a large, consanguineous Saudi family with 6 affected individuals. Linkage over a 1.06 Mb interval on chromosome 19p13.3 was established with a maximal two point LOD score of 5.17. Because numerous genes and hypothetical proteins are mapped to this region, further studies will be necessary to determine the precise genetic defect in this family.




This article has been cited by other articles:


Home page
 J EndocrinolHome page
E. B Trarbach, M. T M Baptista, H. M Garmes, and C. Hackel
Molecular analysis of KAL-1, GnRH-R, NELF and EBF2 genes in a series of Kallmann syndrome and normosmic hypogonadotropic hypogonadism patients
J. Endocrinol., December 1, 2005; 187(3): 361 - 368.
[Abstract] [Full Text] [PDF]

Home page
 Hum Reprod UpdateHome page
A. Ulloa-Aguirre, J. A. Janovick, A. Leanos-Miranda, and P. M. Conn
Misrouted cell surface GnRH receptors as a disease aetiology for congenital isolated hypogonadotrophic hypogonadism
Hum. Reprod. Update, March 1, 2004; 10(2): 177 - 192.
[Abstract] [Full Text] [PDF]

Home page
 NEJMHome page
S. B. Seminara, S. Messager, E. E. Chatzidaki, R. R. Thresher, J. S. Acierno Jr., J. K. Shagoury, Y. Bo-Abbas, W. Kuohung, K. M. Schwinof, A. G. Hendrick, et al.
The GPR54 Gene as a Regulator of Puberty
N. Engl. J. Med., October 23, 2003; 349(17): 1614 - 1627.
[Abstract] [Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Endocrinology Endocrine Reviews J. Clin. End. & Metab.
Molecular Endocrinology Recent Prog. Horm. Res. All Endocrine Journals
Copyright © 2003 by The Endocrine Society