|
KMID : 0648420110160010061
|
|
Journal of Korean Society of Pediatric Endocrinology
2011 Volume.16 No. 1 p.61 ~ p.65
|
|
|
A Familial Case of Kallmann Syndrome due to KAL1 Gene Complete Deletion
|
|
Lee Sun-Hee
Han Seong-Woo
Kim Gu-Hwan
Yoo Han-Wook
Chung Woo-Yeong
|
|
|
Abstract
|
|
|
Kallmann syndrome (KS) is characterized by the association of hypogonadotropic hypogonadism and anosmia.
Although the vast majority of KS cases are sporadic, some X-linked recessive (KAL1), autosomal dominant (FGFR1),
and autosomal recessive (most commonly GNRHR) modes of inheritance have been described. Two boys were
referred to our department because of cryptorchidism and the absence of puberty. Upon laboratory evaluation they
were diagnosed with hypogonadotropic hypogonadism. Agenesis of the olfactory bulbs was detected in radiologic
tests, and total deletion of the KAL1 gene was detected through multiplex ligation-dependent probe amplification
(MLPA). Although cryptorchidism was diagnosed in the siblings, only the older brother suffered from sensorineural
hearing loss and right renal agenesis, a feature that had been reported in X-linked KS. We describe herein the
clinical heterogeneity of two affected brothers who carry a complete deletion in KAL1; this is the first case of familial
Kallmann syndrome due to the complete deletion of the KAL1 gene reported in Korea.
|
|
|
KEYWORD
|
|
|
Kallmann Syndrome, KAL1, gene deletion, Siblings
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
  
|