| Non-syndromic congenital hypogonadotropic hypogonadism: clinical presentation and genotype-phenotype relationships. | |
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MedLine Citation:
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PMID: 20207726 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Congenital hypogonadotropic hypogonadism (CHH) results from abnormal gonadotropin secretion, and it is characterized by impaired pubertal development. CHH is caused by defective GNRH release, or by a gonadotrope cell dysfunction in the pituitary. Identification of genetic abnormalities related to CHH has provided major insights into the pathways critical for the development, maturation, and function of the reproductive axis. Mutations in five genes have been found specifically in Kallmann's syndrome, a disorder in which CHH is related to abnormal GNRH neuron ontogenesis and is associated with anosmia or hyposmia. In combined pituitary hormone deficiency or in complex syndromic CHH in which gonadotropin deficiency is either incidental or only one aspect of a more complex endocrine disorder or a non-endocrine disorder, other mutations affecting GNRH and/or gonadotropin secretion have been reported. Often, the CHH phenotype is tightly linked to an isolated deficiency of gonadotropin secretion. These patients, who have no associated signs or hormone deficiencies independent of the deficiency in gonadotropin and sex steroids, have isolated CHH. In some familial cases, they are due to genetic alterations affecting GNRH secretion (mutations in GNRH1, GPR54/KISS1R and TAC3 and TACR3) or the GNRH sensitivity of the gonadotropic cells (GNRHR). A minority of patients with Kallmann's syndrome or a syndromic form of CHH may also appear to have isolated CHH, but close clinical, familial, and genetic studies can reorient the diagnosis, which is important for genetic counseling in the context of assisted reproductive medicine. This review focuses on published cases of isolated CHH, its clinical and endocrine features, genetic causes, and genotype-phenotype relationships. |
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Authors:
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Fr?d?ric Brioude; J?r?me Bouligand; S?verine Trabado; Bruno Francou; Sylvie Salenave; Peter Kamenicky; Sylvie Brailly-Tabard; Philippe Chanson; Anne Guiochon-Mantel; Jacques Young |
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Publication Detail:
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Type: Journal Article; Research Support, Non-U.S. Gov't; Review Date: 2010-03-05 |
Journal Detail:
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Title: European journal of endocrinology / European Federation of Endocrine Societies Volume: 162 ISSN: 1479-683X ISO Abbreviation: Eur. J. Endocrinol. Publication Date: 2010 May |
Date Detail:
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Created Date: 2010-04-27 Completed Date: 2010-05-07 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 9423848 Medline TA: Eur J Endocrinol Country: England |
Other Details:
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Languages: eng Pagination: 835-51 Citation Subset: IM |
Affiliation:
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Universit? Paris-Sud 11 and INSERM U 693, Facult? de M?decine Paris Sud, Le Kremlin Bic?tre, France. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Adult Amenorrhea / etiology Female Genotype Gonadotropin-Releasing Hormone / genetics Humans Hypogonadism / diagnosis, genetics*, physiopathology Infant Kallmann Syndrome / genetics, physiopathology Male Neurokinin B / genetics Phenotype Protein Precursors / genetics Receptors, G-Protein-Coupled / genetics Receptors, LHRH / genetics Receptors, Neurokinin-3 / genetics Testosterone / blood |
| Chemical | |
Reg. No./Substance:
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0/KISS1R protein, human; 0/Protein Precursors; 0/Receptors, G-Protein-Coupled; 0/Receptors, LHRH; 0/Receptors, Neurokinin-3; 0/progonadoliberin I; 33515-09-2/Gonadotropin-Releasing Hormone; 58-22-0/Testosterone; 86933-75-7/Neurokinin B |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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