Kallmann syndrome with a Tyr113His PROKR2 mutation

Jeong-Ha Ha1, Sara Lee, Youngmoon Kim

  • 1Department of Internal Medicine, Sanggye Paik Hospital, College of Medicine, Inaja University, Seoul Green Cross Genome, Yongin Cardiovascular and Metabolic Disease Center, College of Medicine, Inje University, Busan Department of Laboratory Medicine, Sanggye Paik Hospital, College of Medicine, Inje University, Seoul, Republic of Korea.

Medicine
|September 1, 2017
PubMed
Summary

Kallmann syndrome (KS) is a genetic disorder causing hypogonadotropic hypogonadism and anosmia. A PROKR2 gene mutation was identified as the cause in a 16-year-old male, highlighting the role of PROKR signaling in KS.

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