Discovery of a Large Deletion of kal1 in 2 Deaf Brothers

Objectives Kallmann syndrome(KS) usually combines an anosmiaand a hypogonadotrophic hypogonadism. Hearing impairment was described in a few cases of KS. Our objective is to describe an unusual presentation of KS in 2 cases and to explore the pattern of inheritance in this family. Patients Two brotherspresented with a sensorineural hearing impairmentassociated with cryptorchidism and abnormal movements. Results Genome-wide array analysis identified a large deletion of KAL1 in both patients confirming the diagnosis of Kallmann syndrome. The absence of familial history has been explained by a somatic mosaicismidentified in their mother. Conclusion The description of a hearing defect in 2 brotherswith Kallmann syndromeallows asserting that deafness is part of the clinical features of this disease and must lead the physician to monitor the hearing function of Kallmann patients.