Literature DB >> 19506827

[Kallmann syndrome. Fundamentals and two medical histories].

J Hefner1, H Csef, J Seufert.   

Abstract

Kallmann syndrome is defined as a combination of isolated hypogonadotropic hypogonadism (IHH), hyposmia or anosmia and several optional neurological or anatomical particularities. The genetically caused illness affects mechanisms of neuronal migration, first of all concerning GnRH-producing neurons and those of the olfactory bulb.The first, nowadays rather seldom case, serves as an example of a patient suffering from grave, especially somatic symptoms of the disease. IHH, anosmia, eunuchoidism (physique, puerile voice, gynecomastia, micropenis, missing secondary sex characteristics) and distinct osteoporosis were verified.With the case of the second patient, late psychosexual sequelae of the syndrome are elucidated. The patient had been treated with testosterone after contracting mumps orchitis in early childhood. The physical development of the second patient progressed well since initiation of hormone substitution; however, infertility was still present. Now he complains of symptoms of depression caused by the separation from his female partner. Intermittent disorders of sexual functions and difficulties in establishing a male sexual identity lowered his self-esteem. Diagnostic and therapeutic capabilities and limits are particularized and items of future concern are emphasized.

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Year:  2009        PMID: 19506827     DOI: 10.1007/s00115-009-2739-8

Source DB:  PubMed          Journal:  Nervenarzt        ISSN: 0028-2804            Impact factor:   1.214


  27 in total

Review 1.  [Treatment of hypogonadism and infertility in the male. I].

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Journal:  Med Klin (Munich)       Date:  1990-02-15

Review 2.  Mechanisms of disease: Insights into X-linked and autosomal-dominant Kallmann syndrome.

Authors:  Pei-San Tsai; John C Gill
Journal:  Nat Clin Pract Endocrinol Metab       Date:  2006-03

3.  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

4.  Xp22.3 deletions in isolated familial Kallmann's syndrome.

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Journal:  J Clin Endocrinol Metab       Date:  1993-04       Impact factor: 5.958

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Authors:  E Placzkiewicz; A Baldys-Waligorska
Journal:  Ann Endocrinol (Paris)       Date:  2003-10       Impact factor: 2.478

7.  Expression of the KAL gene in multiple neuronal sites during chicken development.

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8.  Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice.

Authors:  John Falardeau; Wilson C J Chung; Andrew Beenken; Taneli Raivio; Lacey Plummer; Yisrael Sidis; Elka E Jacobson-Dickman; Anna V Eliseenkova; Jinghong Ma; Andrew Dwyer; Richard Quinton; Sandra Na; Janet E Hall; Celine Huot; Natalie Alois; Simon H S Pearce; Lindsay W Cole; Virginia Hughes; Moosa Mohammadi; Pei Tsai; Nelly Pitteloud
Journal:  J Clin Invest       Date:  2008-08       Impact factor: 14.808

Review 9.  Sex steroids and human behavior: prenatal androgen exposure and sex-typical play behavior in children.

Authors:  Melissa Hines
Journal:  Ann N Y Acad Sci       Date:  2003-12       Impact factor: 5.691

Review 10.  Kallmann syndrome and the link between olfactory and reproductive development.

Authors:  E I Rugarli
Journal:  Am J Hum Genet       Date:  1999-10       Impact factor: 11.025

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  1 in total

1.  Living with Kallmann Syndrome - Analysis of Subjective Experience Reports from Women.

Authors:  J Hofmann; M Watzlawik; H Richter-Appelt
Journal:  Geburtshilfe Frauenheilkd       Date:  2013-11       Impact factor: 2.915

  1 in total

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