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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.
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.
Area of Science:
- Genetics
- Endocrinology
- Neuroscience
Background:
- Kallmann syndrome (KS) is a genetic disorder characterized by hypogonadotropic hypogonadism and impaired sense of smell (anosmia or hyposmia).
- KS exhibits diverse inheritance patterns, indicating genetic heterogeneity.
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