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Clinical Manifestations of Impaired GnRH Neuron Development and Function

Kim H.-G.a · Bhagavath B.b · Layman L.C.a

Author affiliations

aSection of Reproductive Endocrinology, Infertility, and Genetics, Department of Obstetrics and Gynecology, Reproductive Medicine Program, Developmental Neurobiology Program, Institute of Molecular Medicine and Genetics, Neuroscience Program, Medical College of Georgia, Augusta, Ga., and bDivision of Reproductive Endocrinology and Infertility, Women and Infants’ Hospital of Rhode Island, Brown University, Providence, R.I., USA

Corresponding Author

Lawrence C. Layman, MD

Section of Reproductive Endocrinology, Infertility, and Genetics Department of Obstetrics and Gynecology, The Medical College of Georgia

1120 15th Street, Augusta, GA 30912-3360 (USA)

Tel. +1 706 721 3832, Fax +1 706 7216830, E-Mail llayman@mcg.edu

Related Articles for ""

Neurosignals 2008;16:165–182

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Gonadotropin-releasing hormone (GnRH) and olfactory neurons migrate together in embryologic development, and disruption of this process causes idiopathic hypogonadotropic hypogonadism (IHH) with anosmia (Kallmann syndrome (KS)). Patients with IHH/KS generally manifest irreversible pubertal delay and subsequent infertility due to deficient pituitary gonadotropins or GnRH. The molecular basis of IHH/KS includes genes that: (1) regulate GnRH and olfactory neuron migration; (2) control the synthesis or secretion of GnRH; (3) disrupt GnRH action upon pituitary gonadotropes, or (4) interfere with pituitary gonadotropin synthesis or secretion. KS patients may also have midline facial defects indicating the diverse developmental functions of genes involved. Most causative genes cause either normosmic IHH or KS except FGFR1, which may cause either phenotype. Recently, several balanced chromosomal translocations have been identified in IHH/KS patients, which could lead to the identification of new disease-producing genes. Although there are two cases reported who have digenic disease, this awaits confirmation in future larger studies. The challenge will be to determine the importance of these genes in the 10–15% of couples with normal puberty who have infertility.

© 2008 S. Karger AG, Basel

Article / Publication Details

First-Page Preview
Abstract of Paper

Published online: February 05, 2008
Issue release date: February 2008

Number of Print Pages: 18
Number of Figures: 1
Number of Tables: 2

ISSN: 1424-862X (Print)
eISSN: 1424-8638 (Online)

For additional information: http://www.karger.com/NSG

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