[Kallmann's syndrome. Apropos of 2 personal cases].
The Kallmann's syndrome is a rare nosological phenomenon characterized by hypogonadotropic hypogonadism and anosmia. In 1944, Kallmann first studied the genetic aspects of this syndrome in three different families in which 11 subjects suffered of deafness, syncinesis, brain disorders or skeletal anomalies along with olfactory dysfunction. In these patients histological studies revealed either a degeneration in the olfactory bulb tract or a generalized hypoplasia of the olfactory system. In the light of the presence of brain lesions and the possible association with several other endocrine pathologies, hypogonadism should be related to a diminished increase of releasing factors from the hypothalamus. At present the Kallmann's syndrome is considered a genetic syndrome linked to the X-chromosome. The hypothalamus is a genetic disorder target gland and its eventual close connection to the olfactory system could explain endocrine as well as olfactory pathology. Several recent studies carried out on mice by M. Schwanzel-Fukuda and D. Pfaff showed that neurons expressing Luteinizing hormone-releasing hormone (LH-RH) are located in the nervus terminalis, a cranial nerve that is a part of the accessory olfactory system and which projects directly from the nose to the septal-preoptic nuclei in the brain. Clinically, these data could explain the gonadotropin deficiency in association with olfactory dysfunction in the Kallmann's syndrome. In this paper the Authors report two cases of Kallmann's syndrome: a 41-year-old male with eunuchoidism and anosmia, and a 7-year-old child with hypospadia and anosmia.
Ponticelli
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Istituto di Clinica ORL Policlinico di Careggi, Firenze.
Frosini
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P
Masi
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D000328:Adult; D002648:Child; D005058:Eunuchism / Q000150:complications; D006801:Humans; D007006:Hypogonadism / Q000150:complications*; D007021:Hypospadias / Q000150:complications*; D008297:Male; D000857:Olfaction Disorders / Q000150:complications*; D013577:Syndrome
La sindrome di Kallmann. A proposito di due personali osservazioni.