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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