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Ann Pediatr Endocrinol Metab > Volume 11(2); 2006 > Article
A Familial Case of Idiopathic Hypogonadotropic Hypogonadism Occurred in a Boy and His Sister.
Eun Jung Yoo, Kyoung Sim Kim, Yong Wook Kim, Han Wook Yoo, Eun Young Kim
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.
Keywords: Familial;Idiopathic hypogonadotropic hypogonadism;GnRHR;KAL1 mutation analysis


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