J Korean Soc Pediatr Endocrinol.  2011 Apr;16(1):61-65. 10.6065/jkspe.2011.16.1.61.

A Familial Case of Kallmann Syndrome due to KAL1 Gene Complete Deletion

• Lee SH
• Han SW
• Kim GH
• Yoo HW
• Chung WY

• KMID: 1450626
• DOI: http://doi.org/10.6065/jkspe.2011.16.1.61

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

MeSH Terms

Congenital Abnormalities
Cryptorchidism
Hearing Loss, Sensorineural
Humans
Hypogonadism
Kallmann Syndrome
Kidney
Kidney Diseases
Korea
Male
Multiplex Polymerase Chain Reaction
Olfaction Disorders
Olfactory Bulb
Population Characteristics
Puberty
Siblings
Wills
Congenital Abnormalities
Kidney
Kidney Diseases