Black-Right-Pointing-Pointer Kallmann syndrome mutation (A168S) induces a subtle conformational change(s). Highlights: Black-Right-Pointing-Pointer The structural basis of the Kallmann syndrome is elucidated. Kathir, Karuppanan Muthusamy Rajalingam, Dakshinamurthy Molecular basis for the Kallmann syndrome-linked fibroblast growth factor receptor mutation The aim of this paper is to present an updated review of the clinical and molecular basis, highlighting the relevance of knowledge of phenotypic variants in Kallmann syndrome. 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 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. Kallmann syndrome is characterized by hypogonadotropic hypogonadism and anosmia/hyposmia. Gutiérrez-Amavizca, Bianca Ethel Figuera, Luis E Orozco-Castellanos, Ricardo
DNA analysis has identified and mapped the genes responsible for these disorders. Such patients present with complex phenotypes characterized by a combination of Kallmann's syndrome with X-linked icthyosis due to steroid sulfatase deficiency, chondrodysplasia punctata, short stature, and mental retardation. This was confirmed by the description of patients with contiguous gene syndromes due to deletions of various portions of the distal short arm of the X-chromosome. By genetic linkage analysis the X-linkedmore » form of Kallmann's syndrome was localized to Xp22.3. Kallmann's syndrome occurs in less than 1 in 10,000 male births, with a 5-fold excess of affected males to females, suggesting that the X-linked form is the most frequent. Based on segregation analysis of multiple families, three modes of transmission have been documented: X-linked, autosomal dominant with variable penetrance, and autosomal recessive. Originally described in 1856, the first familial cases were reported by Kallmann et al., in 1944.
Kallmann's syndrome or olfactogenital dysplasia refers to a disorder characterized by hypogonadotropic hypogonadism and anosmia or hyposmia which can occur sporadically or in a familial setting. PMID:27101217Įditorial: X-chromosome-linked Kallmann's syndrome: Pathology at the molecular level A biographical note on Franz Joseph Kallmann and his historical context is presented. Despite the fact that Kallmann syndrome is the most recognized eponym, very little is known about the man for whom the syndrome is named. Yet, several other eponyms for the same syndrome can be found in the literature. Kallmann syndrome is named after Franz Joseph Kallmann, a German-born psychiatrist who described in 1944 twelve subjects from three families who presented with a syndrome of missed puberty, anosmia, and color blindness.
Kallmann Syndrome: Eugenics and the Man behind the Eponym
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