Literature DB >> 8077894

Association of isolated hypogonadotropic hypogonadism, pronounced hypodontia and the Wolff-Parkinson-White syndrome.

R Abs1, D Raes, H Vercruysse.   

Abstract

Diagnosis of idiopathic isolated hypogonadotropic hypogonadism was made in a 22-year-old female patient referred for primary amenorrhoea. It was considered a separate entity from Kallmann's syndrome, because it was not accompanied by anosmia or other specific pleiotropic features. On the other hand, the patient showed severe hypodontia and an intermittent Wolff-Parkinson-White syndrome. To our knowledge, this association has never been reported before. This unusual phenotype points to a nonrandom association. However, no information in the literature is available to consider a new single gene defect or a contiguous gene syndrome.

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Year:  1994        PMID: 8077894     DOI: 10.1111/j.1365-2796.1994.tb00807.x

Source DB:  PubMed          Journal:  J Intern Med        ISSN: 0954-6820            Impact factor:   8.989


  2 in total

1.  Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism.

Authors:  Nelly Pitteloud; James S Acierno; Astrid Meysing; Anna V Eliseenkova; Jinghong Ma; Omar A Ibrahimi; Daniel L Metzger; Frances J Hayes; Andrew A Dwyer; Virginia A Hughes; Maria Yialamas; Janet E Hall; Ellen Grant; Moosa Mohammadi; William F Crowley
Journal:  Proc Natl Acad Sci U S A       Date:  2006-04-10       Impact factor: 11.205

2.  Olfactory Radioanatomical Findings in Patients With Cardiac Arrhythmias, COVID-19, and Healthy Controls.

Authors:  Mitchell R Gore
Journal:  Cureus       Date:  2022-07-05
  2 in total

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