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Abnormalities in Puberty - part 5

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không có triệu chứng tinh hoàn còn lại các khối u tuyến thượng thận. J Pediatr Endocrinol Metab năm 2004; 17: 589-590. Stikkelbroeck MML, Suliman HM, BJ Otten, Hermus ARMM, Blickman JG, Jager GJ: khối u tinh hoàn còn lại thượng thận ở nam giới postpubertal với tăng sản thượng thận bẩm sinh: tính năng siêu âm | 64 Hughes I Asymptomatic testicular adrenal rest tumours. J Pediatr Endocrinol Metab 2004 17 589-590. 65 Stikkelbroeck MML Suliman HM Otten BJ Hermus ARMM Blickman JG Jager GJ Testicular adrenal rest tumours in postpubertal males with congenital adrenal hyperplasia Sonographic and MR features. Eur Radiol 2003 13 1597-1603. Dr. Barto J. Otten Department of Pediatric Endocrinology University Hospital St. Radboud Postbus 9101 NL-6500 HB Nijmegen The Netherlands Tel. 31 24 361 44 29 Fax 31 24 361 91 23 E-Mail b.otten@cukz.umcn.nl Otten Stikkelbroeck Claahsen-van der Grinten Hermus 66 This is trial version www.adultpdf.com Delemarre-van de Waal HA ed Abnormalities in Puberty. Scientific and Clinical Advances. Endocr Dev. Basel Karger 2005 vol 8 pp 67-80 Molecular Genetics of Isolated Hypogonadotropic Hypogonadism and Kallmann Syndrome Beate Karges Nicolas de Rouxb a University Children s Hospital University of Ulm Ulm Germany b INSERM U584 Hormone Targets Medical Faculty Necker-Enfants Malades and University Paris XI Paris France Abstract Isolated hypogonadotropic hypogonadism IHH is characterized by complete or partial failure of pubertal development due to impaired secretion of luteinizing hormone LH and follicle-stimulating hormone FSH . In the molecular pathogenesis of IHH the gonadotropin-releasing hormone receptor GnRH-R and associated proteins have evolved as a central element. GnRH-R germline mutations were among the first genetic alterations identified in patients with IHH. These mutations are associated with impaired GnRH binding ligand-induced signal transduction or both leading to various degrees of LH and FSH deficiency. As GnRH-R mutations explain several but not all cases of IHH the search for new candidate genes continued in informative families. In 2003 mutations of the KiSS-1-derived peptide receptor GPR54 were identified in patients with IHH opening a new pathway in the physiologic regulation of puberty and reproduction. GPR54 is putatively involved .