A Familial Case of Idiopathic Hypogonadotropic Hypogonadism Occurred in a Boy and His Sister / 대한소아내분비학회지
Journal of Korean Society of Pediatric Endocrinology
;
: 199-204, 2006.
Artigo
em Coreano
| WPRIM
| ID: wpr-26281
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Puberdade Tardia
/
Olfato
/
Síndrome de Kallmann
/
Receptores LHRH
/
Irmãos
/
Gonadotropinas
/
Gônadas
/
Hipogonadismo
/
Transtornos do Olfato
Limite:
Humanos
/
Masculino
Idioma:
Coreano
Revista:
Journal of Korean Society of Pediatric Endocrinology
Ano de publicação:
2006
Tipo de documento:
Artigo
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