Literature DB >> 25498112

Biochemical and MRI findings of Kallmann's syndrome.

Prafulla Kumar Dash1, Dinesh Harvey Raj1.   

Abstract

Kallmann's syndrome is a neuronal migration disorder characterised by anosmia/hyposmia and hypogonadotropic hypogonadism. We present a case of a 21-year-old man who was unable to sense smell since birth and who displayed non-development of secondary sexual characteristics for the past 10 years. Blood investigations showed low basal levels of serum follicle stimulating hormone (FSH), serum luteinising hormone (LH) and serum testosterone. After a gonadotropin releasing hormone challenge test there was a slight increase in serum FSH and serum LH, and after a human chorionic gonadotropin (HCG) challenge test the patient's serum testosterone level increased to 34 times that of his basal level. MRI of the brain showed absence of bilateral olfactory bulbs and sulcus with an apparently normal appearing pituitary gland, and bilateral loss of distinction between the gyrus rectus and medial orbital gyrus, thus confirming the diagnosis. The patient is on treatment with injection of HCG 2000 IU deep intramuscular twice a week and is on follow-up. 2014 BMJ Publishing Group Ltd.

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Year:  2014        PMID: 25498112      PMCID: PMC4265034          DOI: 10.1136/bcr-2014-207386

Source DB:  PubMed          Journal:  BMJ Case Rep        ISSN: 1757-790X


  17 in total

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Authors:  H Bry-Gauillard; S Trabado; J Bouligand; J Sarfati; B Francou; S Salenave; P Chanson; S Brailly-Tabard; A Guiochon-Mantel; J Young
Journal:  Ann Endocrinol (Paris)       Date:  2010-04-03       Impact factor: 2.478

2.  Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome.

Authors:  Catherine Dodé; Jacqueline Levilliers; Jean-Michel Dupont; Anne De Paepe; Nathalie Le Dû; Nadia Soussi-Yanicostas; Roney S Coimbra; Sedigheh Delmaghani; Sylvie Compain-Nouaille; Françoise Baverel; Christophe Pêcheux; Dominique Le Tessier; Corinne Cruaud; Marc Delpech; Frank Speleman; Stefan Vermeulen; Andrea Amalfitano; Yvan Bachelot; Philippe Bouchard; Sylvie Cabrol; Jean-Claude Carel; Henriette Delemarre-van de Waal; Barbara Goulet-Salmon; Marie-Laure Kottler; Odile Richard; Franco Sanchez-Franco; Robert Saura; Jacques Young; Christine Petit; Jean-Pierre Hardelin
Journal:  Nat Genet       Date:  2003-03-10       Impact factor: 38.330

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Authors:  J L Males; J L Townsend; R A Schneider
Journal:  Arch Intern Med       Date:  1973-04

4.  Effect of purified luteinizing hormone releasing factor on normal and hypogonadotrophic anosmic men.

Authors:  F Naftolin; G W Harris; M Bobrow
Journal:  Nature       Date:  1971-08-13       Impact factor: 49.962

5.  Kallmann syndrome: MR findings.

Authors:  J R Knorr; R L Ragland; R S Brown; N Gelber
Journal:  AJNR Am J Neuroradiol       Date:  1993 Jul-Aug       Impact factor: 3.825

6.  Origin of luteinizing hormone-releasing hormone neurons.

Authors:  M Schwanzel-Fukuda; D W Pfaff
Journal:  Nature       Date:  1989-03-09       Impact factor: 49.962

7.  Definitive localization of X-linked Kallman syndrome (hypogonadotropic hypogonadism and anosmia) to Xp22.3: close linkage to the hypervariable repeat sequence CRI-S232.

Authors:  T Meitinger; B Heye; C Petit; J Levilliers; A Golla; C Moraine; B Dalla Piccola; W G Sippell; J Murken; A Ballabio
Journal:  Am J Hum Genet       Date:  1990-10       Impact factor: 11.025

8.  Kallman syndrome versus idiopathic hypogonadotropic hypogonadism at MR imaging.

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Journal:  Radiology       Date:  1994-04       Impact factor: 11.105

9.  Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome.

Authors:  M Schwanzel-Fukuda; D Bick; D W Pfaff
Journal:  Brain Res Mol Brain Res       Date:  1989-12

10.  Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2.

Authors:  Catherine Dodé; Luis Teixeira; Jacqueline Levilliers; Corinne Fouveaut; Philippe Bouchard; Marie-Laure Kottler; James Lespinasse; Anne Lienhardt-Roussie; Michèle Mathieu; Alexandre Moerman; Graeme Morgan; Arnaud Murat; Jean-Edmont Toublanc; Slawomir Wolczynski; Marc Delpech; Christine Petit; Jacques Young; Jean-Pierre Hardelin
Journal:  PLoS Genet       Date:  2006-09-01       Impact factor: 5.917

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  1 in total

1.  A case of Kallmann syndrome associated with a non-functional pituitary microadenoma.

Authors:  Taieb Ach; Hela Marmouch; Dorra Elguiche; Asma Achour; Hajer Marzouk; Hanene Sayadi; Ines Khochtali; Mondher Golli
Journal:  Endocrinol Diabetes Metab Case Rep       Date:  2018-04-17
  1 in total

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