J Korean Soc Pediatr Endocrinol.
2006 Dec;11(2):199-204.
A Familial Case of Idiopathic Hypogonadotropic Hypogonadism Occurred in a Boy and His Sister
- Affiliations
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- 1Department of Pediatrics, Kwangju Christian Hospital, Gwangju, Korea. eykim_kook@yahoo.com
- 2Department of Pediatrics, Asan Medical Center, University of Ulsan, College of Medicine, Seoul, Korea.
Abstract
- Isolated gonadotropin deficiency can be idiopathic or a part of X-linked Kallmann syndrome associated with anosmia. There have been several trials to reveal the genetic mutations that affect gonadotropin secretion, and approximately 10% of sporadic patients have mutations in either gonadotropin releasing hormone receptor (GnRHR) or KAL1 gene. Here we report one familial cases of idiopathic hypogonadotropic hypogonadism occurred in a boy and his elder sister. They presented with delayed puberty and hypoplastic gonads, but normal sense of smell. We performed GnRHR and KAL1 mutation analysis, but could not find any mutation.
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