The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human

The Journal of Clinical Endocrinology and Metabolism
J WaldstreicherWilliam F Crowley

Abstract

Despite recent advances in the understanding of the pathophysiology of Kallmann's syndrome (KS), the patterns of inheritance in the majority of cases of GnRH deficiency in human subjects remain unclear. To define further the genetic and phenotypic variability of this syndrome, detailed family histories were reviewed in 106 cases of GnRH deficiency with or without anosmia [i.e. KS or idiopathic hypogonadotropic hypogonadism (IHH)]. The great majority of cases appeared to be sporadic, with only 19 probands (18%) having at least 1 family member with GnRH deficiency. However, of the families in which the proband was the sole member affected by KS or IHH, 9 had individuals with isolated anosmia, and 8 had a strong history of delayed puberty. If these phenotypes were considered as alternative manifestations of the same genetic defect that presented as KS or IHH in the proband, 34% of the cases in the present series could be considered familial. In these families, the most likely modes of transmission were assessed in several ways, including analysis of probands with KS as a distinct subset, and separate determinations based upon whether the phenotypes of isolated anosmia and/or delayed puberty were considered relevant to the inherita...Continue Reading

Citations

Apr 12, 2006·Proceedings of the National Academy of Sciences of the United States of America·Nelly PitteloudWilliam F Crowley
Oct 26, 2007·Proceedings of the National Academy of Sciences of the United States of America·J Larry Jameson
Aug 11, 2010·Proceedings of the National Academy of Sciences of the United States of America·Gerasimos P SykiotisNelly Pitteloud
Aug 28, 1998·BMJ : British Medical Journal·R QuintonM P Vanderpump
Jul 8, 2010·Neuroendocrinology·Ravikumar BalasubramanianWilliam F Crowley
Apr 13, 2010·The Journal of Clinical Endocrinology and Metabolism·Gerasimos P SykiotisNelly Pitteloud
Jul 13, 2007·Pituitary·Ericka Barbosa TrarbachAna Claudia Latronico
Nov 19, 2005·Internal Medicine·Ryusuke MatsumotoTakao Koike
Dec 18, 2012·Periodontology 2000·G Wright Bates, Meaghan Bowling
Mar 9, 2011·Annals of the New York Academy of Sciences·Kathleen HwangDolores J Lamb
Jan 26, 2006·Endocrine Reviews·Johannes D VeldhuisCyril Y Bowers
Jul 25, 2019·Frontiers in Endocrinology·Andrew A DwyerRichard Quinton

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