Hypogonadism in a Patient with Two Novel Mutations of the Luteinizing Hormone β-Subunit Gene Expressed in a Compound Heterozygous Form

Author:

Basciani Sabrina1,Watanabe Mikiko1,Mariani Stefania1,Passeri Marina2,Persichetti Agnese1,Fiore Daniela1,Scotto d'Abusco Anna3,Caprio Massimiliano4,Lenzi Andrea1,Fabbri Andrea2,Gnessi Lucio1

Affiliation:

1. Department of Experimental Medicine, Section of Medical Physiopathology and Endocrinology (S.B., M.W., S.M., A.P., D.F., A.L., L.G.), 00161 Rome, Italy

2. Department of Internal Medicine (M.P., A.F.), Endocrinology Unit, St. Eugenio and Centro Traumatologico Ortopedico A. Alesini Hospitals, University of Rome Tor Vergata, 00133 Rome, Italy

3. Department of Biochemical Sciences, Sapienza University of Rome (A.S.d'A.), 00161 Rome, Italy

4. Centre for Clinical and Basic Research (M.C.), Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele, 00166, Rome, Italy

Publisher

The Endocrine Society

Subject

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

Reference26 articles.

1. Recent progress in luteinizing hormone/human chorionic gonadotrophin hormone research.;Rahman;Mol Hum Reprod,2009

2. Hypogonadism caused by a single amino acid substitution in the β subunit of luteinizing hormone.;Weiss;N Engl J Med,1992

3. Hypogonadism in a patient with a mutation in the luteinizing hormone β-subunit gene.;Valdes-Socin;N Engl J Med,2004

4. Luteinizing hormone β mutation and hypogonadism in men and women.;Lofrano-Porto;N Engl J Med,2007

5. Identification of a family harboring a novel LH β-subunit mutation associated with hypogonadism;Daly

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