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Ann Pediatr Endocrinol Metab > Volume 10(1); 2005 > Article
Two Cases of Kallmann Syndrome Presented with Delayed Puberty.
Hee Kyoung Choi, Jin Ho Choi, Han Wook Yoo
Department of Pediatrics, University of Ulsan Collge of Medicine, Asan Medical Center, Seoul, Korea. hwyoo@amc.seoul.kr
Kallmann syndrome is caused by the defects of migration of the olfactory and GnRH neurons from the olfactory placodes to the brain, and characterized by hypogonadotropic hypogonadism, and anosmia or hyposmia. This syndrome is genetically heterogeneous and transmitted by an X-linked, autosomal dominant or recessive trait. We experienced two patients with Kallmann syndrome presented with delayed puberty, sensorineural hearing loss and anosmia. Hypogonadotropic hypogonadism was demonstrated by combined anterior pituitary function tests in both patients. Magnetic resonance imaging of both patients revealed deficiency of olfactory sulcus and absent olfactory bulbs. These patients have been under treatment with testosterone enanthate, resulting in increasing penile length. We report here two typical cases of Kallmann syndrome with review of the literature.
Keywords: Anosmia;Hypogonadotrophic hypogonadism;Kallmann syndrome;Sensorineural hearing loss


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