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2012, Number 2

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Rev Med Inst Mex Seguro Soc 2012; 50 (2)

Current genetics issues and phenotypic variants in Kallmann syndrome

Gutiérrez-Amavizca BE, Figuera LE, Orozco-Castellanos R

Language: Spanish
References: 32
Page: 157-161
PDF size: 39.54 Kb.


ABSTRACT

Kallmann syndrome is characterized by hypogonadotropic hypogonadism and anosmia/hyposmia. The hypogonadotropic hypogonadism is due to deficiency of gonadotropin-releasing hormone, caused by a defect in the migration of neurons synthesizing gonadotropin-releasing hormone, and anosmia/ hyposmia is related to the absence or hypoplasia of the olfactory bulb and tracts. Some patients may have other associated abnormalities such as renal agenesis, cleft palate, dental agenesis, synkinesis, shortening of metacarpal, sensory neural hearing loss and seizures. The aim of this paper is to present an up-dated review of the clinical and molecular basis, highlighting the relevance of knowledge of phenotypic variants in Kallmann syndrome.


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