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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Fei Hong / Toppari, Jorma / Turan, Serap Demircioglu


IMPACT FACTOR 2018: 1.239

CiteScore 2018: 1.22

SCImago Journal Rank (SJR) 2018: 0.507
Source Normalized Impact per Paper (SNIP) 2018: 0.562

Online
ISSN
2191-0251
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Volume 32, Issue 8

Issues

Thyroid function in males with fragile X syndrome

Sylvia A. Huisman
  • Corresponding author
  • Department of Pediatrics, Amsterdam University Medical Center, Amsterdam, The Netherlands
  • Prinsenstichting, Purmerend, The Netherlands
  • Email
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Brenda M. Wiedijk
  • Department of Pediatric Endocrinology, Amsterdam University Medical Center, Amsterdam, The Netherlands
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Agnies M. van Eeghen
  • Department of Pediatrics, Amsterdam University Medical Center, Amsterdam, The Netherlands
  • ’s Heeren Loo Zorggroep, Amersfoort, The Netherlands
  • Erasmus Medical Center, Rotterdam, The Netherlands
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
/ Raoul C. Hennekam / A.S. Paul van Trotsenburg
  • Department of Pediatric Endocrinology, Amsterdam University Medical Center, Amsterdam, The Netherlands
  • Other articles by this author:
  • De Gruyter OnlineGoogle Scholar
Published Online: 2019-07-06 | DOI: https://doi.org/10.1515/jpem-2019-0224

References

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    Iughetti L, Vivi G, Balsamo A, Corrias A, Crinò A, et al. Thyroid function in patients with Prader-Willi syndrome: an Italian multicenter study of 339 patients. J Pediatr Endocrinol Metab 2019;32:159–65.CrossrefPubMedWeb of ScienceGoogle Scholar

  • 2.

    Carey IM, Shah SM, Hosking FJ, DeWilde S, Harris T, et al. Health characteristics and consultation patterns of people with intellectual disability: a cross-sectional database study in English general practice. Br J Gen Pract 2016;66:e264–70.CrossrefWeb of SciencePubMedGoogle Scholar

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    Sun Y, Bak B, Schoenmakers N, van Trotsenburg AS, Oostdijk W, et al. Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. Nat Genet 2012;44:1375–81.Web of ScienceCrossrefPubMedGoogle Scholar

  • 4.

    Bregman JD, Leckman JF, Ort SI. Thyroid function in fragile-X syndrome males. Yale J Biol Med 1990;63:293–9.PubMedGoogle Scholar

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    Nielsen KB, Tommerup N, Dyggve HV, Schou C. Macroorchidism and fragile X in mentally retarded males. Clinical, cytogenetic, and some hormonal investigations in mentally retarded males, including two with the Fragile site at Xq28, fra(X)(q28). Hum Genet 1982;61:113–7.PubMedGoogle Scholar

  • 6.

    Wilson DP, Carpenter NJ, Berkovitz G. Thyroid function in men with fragile X-linked MR. Am J Med Genet 1988;31:733–4.CrossrefPubMedGoogle Scholar

  • 7.

    Persani L. Clinical review: central hypothyroidism: pathogenic, diagnostic, and therapeutic challenges. J Clin Endocrinol Metab 2012;97:3068–78.CrossrefPubMedGoogle Scholar

  • 8.

    Canaris GJ, Manowitz NR, Mayor G, Ridgway EC. The Colorado thyroid disease prevalence study. Arch Intern Med 2000;160:526–34.CrossrefPubMedGoogle Scholar

  • 9.

    Hollowell JG, Staehling NW, Flanders WD, Hannon WH, Gunter EW, et al. Serum TSH, T(4), and thyroid antibodies in the United States population (1988 to 1994): National Health and Nutrition Examination Survey (NHANES III). J Clin Endocrinol Metab 2002;87:489–99.CrossrefGoogle Scholar

About the article

Corresponding author: Sylvia A. Huisman, MD, PhD, Department of Pediatrics, Amsterdam University Medical Center, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands; and Prinsenstichting, Purmerend, The Netherlands, Phone: +31 020 566 1415

aRaoul C. Hennekam and A.S. Paul van Trotsenburg contributed equally to this work.


Received: 2019-05-19

Accepted: 2019-05-28

Published Online: 2019-07-06

Published in Print: 2019-08-27


Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.

Research funding: None declared.

Employment or leadership: None declared.

Honorarium: None declared.

Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.


Citation Information: Journal of Pediatric Endocrinology and Metabolism, Volume 32, Issue 8, Pages 903–905, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2019-0224.

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