Genetic testing facilitates prepubertal diagnosis of congenital hypogonadotropic hypogonadism

Neonatal micropenis and cryptorchidism raise the suspicion of congenital hypogonadotropic hypogonadism (CHH), a rare genetic disorder caused by GnRH deficiency. Low plasma testosterone levels and low gonadotropins during minipuberty provide a clinical diagnostic clue, yet these tests are seldomly pe...

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Detaylı Bibliyografya
Yayımlandı:Clin Genet
Asıl Yazarlar: Xu, Cheng, Lang-Muritano, Mariarosaria, Phan-Hug, Franziska, Dwyer, Andrew A., Sykiotis, Gerasimos P., Cassatella, Daniele, Acierno, James, Mohammadi, Moosa, Pitteloud, Nelly
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2017
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5513751/
https://ncbi.nlm.nih.gov/pubmed/28195315
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.12996
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