Hipogonadotropik hipogonadizm sendromları
HLD sendromları; 4H sendromları
Kalıtsal - AR/AD/XLR
20 fenotip
Bazı sendromlarda ikincil bulgu
Pubertede aksamalar
Genital organ anomalileri
Genital organlarda gelişme geriliği
Sekonder cinsel yapıların gecikmesi
Azospermi
Mens bozuklukları
Üriner sistem malformasyonları
Ekstremite anomalileri
Santral sinir sistemi anomalileri
Sinir sistemi etkilenmesine özgü bulgular
Koku alma bozuklukları
İşitme sorunları
Hipogonadotropik hipogonadizm 1: Bkz Kallmann sendromları
Hipogonadotropik hipogonadizm 2: Bkz Kallmann sendromları
Hipogonadotropik hipogonadizm 5: Yarık dudak, Yarık damak
Hipogonadotropik hipogonadizm sendromu 6: Yarık dudak, Yarık damak
Hipogonadotropik hipogonadizm 7 ve 8: Diş sürmelerinde aksamalar (hipodonti/oligodonti bulguları)
Hipogonadotropik hipogonadizm 9: Yarık dudak, Yarık damak
Hipogonadotropik hipogonadizm 11: Diş sürmelerinde aksamalar (hipodonti/oligodonti bulguları)
Hipogonadotropik hipogonadizm 16: Yarık damak
Hipogonadotropik hipogonadizm 17: Dentisyonda aksamalar
Hipogonadotropik hipogonadizm 18: Dentisyonda aksamalar
Hipogonadotropik hipogonadizm 19: Dentisyonda aksamalar
Hipogonadotropik hipogonadizm 20: Dentisyonda aksamalar
Hipogonadotropik hipogonadizm 21: Yarık dudak, Yarık damak
Hipogonadotropik hipogonadizm 3,4,7,8,22 olgularında: maksillofasiyal bulgu yok
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Timmons M, Tsokos M, Abu Asab M, et al. Peripheral and central hypomyelination with hypogonadotropic hypogonadism and hypodontia. Neurology, 67: 2066-2069, 2006
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Raivio T, Falardeau J, Dwyer A, ae al. Reversal of idiopathic hypogonadotropic hypogonadism. New England Journal of Medicine, 357: 863-873, 2007
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Wolf NI, Harting I, Innes AM, et al. Ataxia, delayed dentition and hypomyelination: a novel leukoencephalopathy. Neuropediatrics, 38: 64-70, 2007
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Fechner A, Fong S, McGovern P. A review of Kallmann syndrome: genetics, pathophysiology, and clinical management. Obstetrical & Gynecological Survey, 63(3):189-194, 2008
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Bernard G, Chouery E, Putorti ML, et al. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase pol III cause a recessive hypomyelinating leukodystrophy. American Journal of Human Genetics, 89: 415-423, 2011
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Wolf NI, Vanderver A, van Spaendonk RML, et al. Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations. Neurology, 83: 1898-1905, 2014
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Kim SH. Congenital hypogonadotropic hypogonadism and Kallmann syndrome: past, present, and future. Endocrinology & Metabolism (Seoul), 30(4):456-466, 2015
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Boehm U, Bouloux PM, Dattani MT, et al. Expert consensus document: European Consensus Statement on Congenital hypogonadotropic hypogonadism - Pathogenesis, diagnosis and treatment. Nature Reviews Endocrinology, 11(9):547-564, 2015
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Topaloğlu AK, Kotan LD. Genetics of hypogonadotropic hypogonadism. Endocrine Development, 29:36-49, 2016