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Inherited disorders of the gonadotropin hormones

Authors
 John C Achermann  ;  Jeffrey Weiss  ;  Eun-Jig Lee  ;  J.Larry Jameson 
Citation
 MOLECULAR AND CELLULAR ENDOCRINOLOGY, Vol.179(1-2) : 89-96, 2001 
Journal Title
 MOLECULAR AND CELLULAR ENDOCRINOLOGY 
ISSN
 0303-7207 
Issue Date
2001
MeSH
Animals ; DNA-Binding Proteins/genetics ; DNA-Binding Proteins/metabolism ; Disorders of Sex Development/genetics* ; Disorders of Sex Development/metabolism* ; Female ; Fushi Tarazu Transcription Factors ; Gametogenesis/physiology ; Gonadotropin-Releasing Hormone/genetics ; Gonadotropin-Releasing Hormone/metabolism* ; Gonadotropins/genetics ; Gonadotropins/metabolism* ; Homeodomain Proteins ; Humans ; Kallmann Syndrome/genetics ; Kallmann Syndrome/physiopathology ; Male ; Mutation/genetics ; Pituitary Gland, Anterior/growth & development ; Pituitary Gland, Anterior/physiopathology* ; Receptors, Cytoplasmic and Nuclear ; Steroidogenic Factor 1 ; Transcription Factors/genetics ; Transcription Factors/metabolism
Keywords
DAX-1 ; GnRH ; Gonadotropins ; Kallmann ; Pituitary ; Reproduction ; SF-1
Abstract
Pulsatile GnRH acts at the GnRH receptor on gonadotropes to stimulate gonadotropin gene expression, hormone synthesis and secretion. The pituitary gonadotropins, LH and FSH, stimulate steroid production and gametogenesis in males and in females. Gonadotropin production thus requires the normal development and function of hypothalamic GnRH-producing neurons and pituitary gonadotrope cells. Genes involved in gonadotrope development and/or gene expression include SF1, DAX1, KAL, GNRHR, PC1, HESX1, LHX3, PROP1, LHβ, and FSHβ. Given the complex control of gonadotropin biosynthesis and secretion, it is not surprising that genetic abnormalities have been identified at several of these steps. Some of the mutations that will be reviewed include: (1) SF1 and DAX1-orphan nuclear receptors that are expressed at multiple levels throughout the reproductive axis; (2) KAL-X-linked Kallmann syndrome, where there is abnormal development of hypothalamic GnRH-producing neurons; (3) PC1-causing abnormal processing of GnRH and GNRHR mutations that impair action at the GnRH receptor; (4) HESX1, LHX3, PROP1-abnormal development/function of the gonadotrope cell lineage; (5) LHβ and FSHβ-mutations in the gonadotropin genes that cause structural abnormalities in the hormones. Although all of these gene defects lead to gonadotropin deficiency, each disorder is associated with unique phenotypic or hormonal features. Characterization of the molecular basis of gonadotropin deficiency is useful for directing therapy and for genetic counseling. Identification of these mutations also provides insight into the pathways that govern reproduction.
Full Text
http://www.sciencedirect.com/science/article/pii/S0303720701004749
DOI
10.1016/S0303-7207(01)00474-9
Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
Yonsei Authors
Lee, Eun Jig(이은직) ORCID logo https://orcid.org/0000-0002-9876-8370
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/142953
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