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.
Article
Dans Coréen
| 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.
Texte intégral:
Disponible
Indice:
WPRIM (Pacifique occidental)
Sujet Principal:
Retard pubertaire
/
Odorat
/
Syndrome de Kallmann
/
Récepteurs à la gonadolibérine
/
Fratrie
/
Gonadotrophines
/
Gonades
/
Hypogonadisme
/
Troubles de l'olfaction
Limites du sujet:
Humains
/
Mâle
langue:
Coréen
Texte intégral:
Journal of Korean Society of Pediatric Endocrinology
Année:
2006
Type:
Article
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