Mutations inProkineticin 2andProkineticin receptor 2genes in Human Gonadotrophin-Releasing Hormone Deficiency: Molecular Genetics and Clinical Spectrum

Author:

Cole Lindsay W.1,Sidis Yisrael1,Zhang ChengKang2,Quinton Richard3,Plummer Lacey1,Pignatelli Duarte4,Hughes Virginia A.1,Dwyer Andrew A.1,Raivio Taneli1,Hayes Frances J.1,Seminara Stephanie B.1,Huot Celine5,Alos Nathalie5,Speiser Phyllis6,Takeshita Akira7,VanVliet Guy8,Pearce Simon4,Crowley William F.1,Zhou Qun-Yong2,Pitteloud Nelly1

Affiliation:

1. Reproductive Endocrine Unit of the Department of Medicine (L.W.C., Y.S., L.P., V.A.H., A.A.D., T.R., F.J.H., S.B.S., W.F.C., N.P.), Harvard Reproductive Endocrine Science Center, Massachusetts General Hospital, and Harvard Medical School, Boston, Massachusetts 02114

2. Department of Pharmacology (C.Z., Q.-Y.Z.), University of California, Irvine, Irvine, California 92697

3. The Institute for Human Genetics & the School of Clinical Medical Sciences (R.Q.), University of Newcastle-on-Tyne, Newcastle on Tyne NE1 4LP, United Kingdom

4. Endocrinology Department (D.P., S.P.), San João Hospital, Laboratory of Cell and Molecular Biology, Faculty of Medicine of Porto, and The Institute of Molecular Pathology and Immunology of the University of Porto, 4200–319 Porto, Portugal

5. Centre de Recherche du Centre Hospitalier Universitaire Sainte-Justine (C.H., N.A.), Montreal, Quebec, H3T 1C5, Canada

6. Division of Pediatric Endocrinology (P.S.), Schneider Children’s Hospital, New Hyde Park, New York 11040

7. Endocrine Center (A.T.), Toranomon Hospital and Okinaka Memorial Institute for Medical Research, Tokyo 105-8470, Japan

8. Endocrinology Service (G.V.V.), Sainte Justine Hospital, Montréal, Québec, Canada H3T 1C5

Publisher

The Endocrine Society

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference35 articles.

1. Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann’s syndrome): pathophysiological and genetic considerations.;Seminara;Endocr Rev,1998

2. The role of prior pubertal development, biochemical markers of testicular maturation, and genetics in elucidating the phenotypic heterogeneity of idiopathic hypogonadotropic hypogonadism.;Pitteloud;J Clin Endocrinol Metab,2002

3. Reversal of idiopathic hypogonadotropic hypogonadism.;Raivio;N Engl J Med,2007

4. Mechanisms of disease: insights into X-linked and autosomal-dominant Kallmann syndrome.;Tsai;Nat Clin Pract Endocrinol Metab,2006

5. Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization.;Quinton;Clin Endocrinol (Oxf),2001

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