Literature DB >> 18174649

Kallmann's syndrome.

M L Kulkarni1, M D Balaji, Akhil M Kulkarni, S Sushanth, Bhagyavathi M Kulkarni.   

Abstract

Kallmann's syndrome is a rare genetic disorder due to abnormal migration of olfactory axons and gonadotropin releasing hormone producing neurons, characterized by hypogonadism and anosmia. The prevalence of Kallmann's syndrome is 1:10,000 to 1:60,000 with a male to female ratio of 5:1. The inheritance of Kallmann's syndrome may be X-linked, autosomal recessive or autosomal dominant with variable penetrance, mutation involving KAL-1 and KAL-2 gene respectively. We report a case of Kallmann's syndrome in a 19-year-old boy with characteristic clinical, biochemical and MRI findings.

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Year:  2007        PMID: 18174649     DOI: 10.1007/s12098-007-0209-5

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN: 0019-5456            Impact factor:   1.967


  10 in total

1.  Brief report: intragenic deletion of the KALIG-1 gene in Kallmann's syndrome.

Authors:  D Bick; B Franco; R J Sherins; B Heye; L Pike; J Crawford; A Maddalena; B Incerti; A Pragliola; T Meitinger; A Ballabio
Journal:  N Engl J Med       Date:  1992-06-25       Impact factor: 91.245

Review 2.  The neuroradiology of Kallmann's syndrome: a genotypic and phenotypic analysis.

Authors:  R Quinton; V M Duke; P A de Zoysa; A D Platts; A Valentine; B Kendall; S Pickman; J M Kirk; G M Besser; H S Jacobs; P M Bouloux
Journal:  J Clin Endocrinol Metab       Date:  1996-08       Impact factor: 5.958

3.  A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor.

Authors:  N de Roux; J Young; M Misrahi; R Genet; P Chanson; G Schaison; E Milgrom
Journal:  N Engl J Med       Date:  1997-11-27       Impact factor: 91.245

4.  Magnetic resonance imaging of the brain in patients with anosmia and hypothalamic hypogonadism (Kallmann's syndrome).

Authors:  D Klingmüller; W Dewes; T Krahe; G Brecht; H U Schweikert
Journal:  J Clin Endocrinol Metab       Date:  1987-09       Impact factor: 5.958

5.  [A case of Kallmann syndrome: diagnostic usefulness of cranial magnetic resonance imaging].

Authors:  K Shiraishi; K Naito
Journal:  Hinyokika Kiyo       Date:  2000-07

6.  Kallmann's syndrome: is it always for life?

Authors:  R Quinton; H K Cheow; D J Tymms; P M Bouloux; F C Wu; H S Jacobs
Journal:  Clin Endocrinol (Oxf)       Date:  1999-04       Impact factor: 3.478

7.  MRI findings in Kallmann syndrome.

Authors:  R Madan; Vijay Sawlani; Sushil Gupta; R V Phadke
Journal:  Neurol India       Date:  2004-12       Impact factor: 2.117

8.  Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.

Authors:  Naoko Sato; Noriyuki Katsumata; Masayo Kagami; Tomonobu Hasegawa; Naoaki Hori; Setsuyo Kawakita; Shigeru Minowada; Aki Shimotsuka; Yoshimasa Shishiba; Masato Yokozawa; Toshiyuki Yasuda; Keisuke Nagasaki; Daiichiro Hasegawa; Yukihiro Hasegawa; Katsuhiko Tachibana; Yasuhiro Naiki; Reiko Horikawa; Toshiaki Tanaka; Tsutomu Ogata
Journal:  J Clin Endocrinol Metab       Date:  2004-03       Impact factor: 5.958

9.  Management of the short stature due to pubertal delay in boys.

Authors:  L Adan; J C Souberbielle; R Brauner
Journal:  J Clin Endocrinol Metab       Date:  1994-02       Impact factor: 5.958

10.  Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targeting.

Authors:  E I Rugarli; B Lutz; S C Kuratani; S Wawersik; G Borsani; A Ballabio; G Eichele
Journal:  Nat Genet       Date:  1993-05       Impact factor: 38.330

  10 in total
  3 in total

1.  A case of Kallmann syndrome.

Authors:  Maria Luisa Cecilia R Arkoncel; Francis Raymond P Arkoncel; Frances Lina Lantion-Ang
Journal:  BMJ Case Rep       Date:  2011-03-25

Review 2.  Ophthalmic clues to the endocrine disorders.

Authors:  Z Liu; Y Chen; Z Lin; X Shi
Journal:  J Endocrinol Invest       Date:  2016-08-27       Impact factor: 4.256

3.  The eye as a window to rare endocrine disorders.

Authors:  Rupali Chopra; Ashish Chander; Jubbin J Jacob
Journal:  Indian J Endocrinol Metab       Date:  2012-05
  3 in total

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