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Kallmann sendromu

Kalıtsal - AD/AR/XLR

20 fenotip

Hipogonadotropik hipogonadizm kümesi PDF

Pubertede aksamalar

Genital organlarda gelişme geriliği ve anomaliler

Sekonder cinsel yapıların gecikmesi

Azospermi

Mens bozuklukları

Üriner sistem malformasyonları

Ekstremite anomalileri

Koku alma bozuklukları

Çoğu fenotipte maksillofasiyal bulgu yok

Kallmann sendromu 2: Yarık dudak, Yarık damak, Hipodonti

 

• Raivio T, Falardeau J, Dwyer A, ae al. Reversal of idiopathic hypogonadotropic hypogonadism. New England Journal of Medicine, 357: 863-873, 2007

• Fechner A, Fong S, McGovern P. A review of Kallmann syndrome: genetics, pathophysiology, and clinical management. Obstetrical & Gynecological Survey, 63(3):189-194, 2008

• Kaplan JD, Bernstein JA, Kwan A, Hudgins L. Clues to an early diagnosis of Kallmann syndrome. American Journal of Medical Genetics A, 152A: 2796-2801, 2010

• Kim SH. Congenital hypogonadotropic hypogonadism and Kallmann syndrome: past, present, and future. Endocrinology & Metabolism (Seoul), 30(4):456-466, 2015

• 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 

• Topaloglu AK, Kotan LD. Genetics of hypogonadotropic hypogonadism. Endocrine Development, 29:36-49, 2016

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