| Congenital hypogonadotropic hypogonadism in females: clinical spectrum, evaluation and genetics. | |
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MedLine Citation:
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PMID: 20363464 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Congenital hypogonadotropic hypogonadisms (CHH) are a well-known cause of pubertal development failure in women. In a majority of patients, the clinical spectrum results from an insufficient and concomitant secretion of both pituitary gonadotropins LH and FSH that impedes a normal endocrine and exocrine cyclical ovary functioning after the age of pubertal activation of gonadotropic axis. In exceptional but interesting cases, they can result from an elective deficit of one of the gonadotropins follicle-stimulating hormone (FSH) or luteinizing hormone (LH) by genetic anomaly of their specific ss sub-unit. CHH prevalence, estimated from teaching hospital series, is considered to be two to five fold less important in women compared to men bearing the disease. This frequency is probably under-estimated in reason of under-diagnosis of forms with partial pubertal development. Isolated or apparently isolated forms (i.e., Kallmann syndrome with anosmia or hyposmia not spontaneously expressed by the patients) of these diseases are most of the time discovered during adolescence or in adulthood in reason of lacking, incomplete or even apparently complete pubertal development, but with almost constant primary amenorrhea. In a minority of cases and mainly in familial forms, genetic autosomal causes have been found. These cases are related to mutations of genes impinging the functioning of the pituitary-hypothalamic pathways involved in the normal secretion of LH and FSH (mutations of GnRHR, GnRH1, KISS1R/GPR54, TAC3, TACR3), which are always associated to isolated non syndromic CHH without anosmia. Some cases of mutations of FGFR1, and more rarely of its ligand FGF8, or of PROKR2 or its ligand PROK2 have been shown in women suffering from Kallmann syndrome or its hyposmic or normosmic variant. In complex syndromic causes (mutations of CHD7, leptin and leptin receptor anomalies, Prader-Willi syndrome, etc.), diagnosis of the CHH cause is most often suspected or set down before the age of puberty in reason of the associated clinical signs, but some rare cases of paucisymptomatic syndromic causes can initially be revealed during adolescence, like isolated non syndromic CHH or Kallmann syndrome. |
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Authors:
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H Bry-Gauillard; S Trabado; J Bouligand; J Sarfati; B Francou; S Salenave; P Chanson; S Brailly-Tabard; A Guiochon-Mantel; J Young |
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Publication Detail:
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Type: Journal Article; Review Date: 2010-04-03 |
Journal Detail:
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Title: Annales d'endocrinologie Volume: 71 ISSN: 0003-4266 ISO Abbreviation: Ann. Endocrinol. (Paris) Publication Date: 2010 May |
Date Detail:
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Created Date: 2010-05-10 Completed Date: 2010-08-10 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0116744 Medline TA: Ann Endocrinol (Paris) Country: France |
Other Details:
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Languages: eng Pagination: 158-62 Citation Subset: IM |
Copyright Information:
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Copyright 2010. Published by Elsevier Masson SAS. |
Affiliation:
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Service d'endocrinologie et des maladies de la reproduction, centre hospitalier universitaire de Bicêtre, Assistance Publique-Hôpitaux de Paris, 78, rue du Général-Leclerc, 94275 Le Kremlin-Bicêtre, France. |
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| MeSH Terms | |
Descriptor/Qualifier:
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Female Fibroblast Growth Factor 8 / genetics Follicle Stimulating Hormone / deficiency, genetics, physiology Gastrointestinal Hormones / genetics Humans Hypogonadism / genetics*, physiopathology Kallmann Syndrome / genetics Leptin / genetics Luteinizing Hormone / deficiency, genetics, physiology Mutation Neuropeptides / genetics Ovarian Follicle / cytology, physiology Ovulation Prader-Willi Syndrome / genetics Pregnancy Pregnancy Complications / genetics Puberty Receptor, Fibroblast Growth Factor, Type 1 / genetics Receptors, G-Protein-Coupled / genetics Receptors, Leptin / genetics Receptors, Peptide / genetics Theca Cells / cytology, physiology |
| Chemical | |
Reg. No./Substance:
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0/FGF8 protein, human; 0/Gastrointestinal Hormones; 0/Leptin; 0/Neuropeptides; 0/PROK2 protein, human; 0/PROKR2 protein, human; 0/Receptors, G-Protein-Coupled; 0/Receptors, Leptin; 0/Receptors, Peptide; 148997-75-5/Fibroblast Growth Factor 8; 9002-67-9/Luteinizing Hormone; 9002-68-0/Follicle Stimulating Hormone; EC 2.7.10.1/Receptor, Fibroblast Growth Factor, Type 1 |
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