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October 27, 2020

Historical Tidbit – October 2020

Franz Josef Kallmann (1897-1965) and Kallmann syndrome

Dr. Kallmann, a psychiatrist interested in the genetics of psychiatric diseases described men with congenital hypogonadotropic hypogonadism and anosmia [Am J Ment Defic. 1944; 48: 203–236], denoted Kallmann syndrome. The pathophysiology is impaired development of the olfactory system and disrupted embryonic migration of GnRH neurons to the hypothalamus. Although a single gene for this condition was found for this multifaceted-syndrome (may include facial clefts, synkinesis and others that arise from contiguous gene deletion), an updated approach to diagnosis describes multiple genes (more than 25), including variable modes of inheritance and oligogenicity. It is part of a family of genes that cause a syndrome of idiopathic hypogonadotropic hypogonadism, not all with anosmia [Nat Rev Endocrinol. 2015; 11:547-64].

Submitted by Alan D. Rogol, MD, Ph.D

Posted in Historical Tidbits
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