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Thyroid function in males with fragile X syndrome

  • Sylvia A. Huisman EMAIL logo , Brenda M. Wiedijk , Agnies M. van Eeghen , Raoul C. Hennekam and A.S. Paul van Trotsenburg

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.

Acknowledgments

The authors are grateful to the individuals with FXS and their families for generously donating samples. We thank all referring ID physicians for their co-operation.

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

  2. Research funding: None declared.

  3. Employment or leadership: None declared.

  4. Honorarium: None declared.

  5. 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.

References

1. 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;32:159–65.10.1515/jpem-2018-0388Search in Google Scholar PubMed

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:e264–70.10.3399/bjgp16X684301Search in Google Scholar PubMed PubMed Central

3. 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;44:1375–81.10.1038/ng.2453Search in Google Scholar PubMed PubMed Central

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

5. 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;61:113–7.10.1007/BF00274199Search in Google Scholar PubMed

6. Wilson DP, Carpenter NJ, Berkovitz G. Thyroid function in men with fragile X-linked MR. Am J Med Genet 1988;31:733–4.10.1002/ajmg.1320310402Search in Google Scholar PubMed

7. Persani L. Clinical review: central hypothyroidism: pathogenic, diagnostic, and therapeutic challenges. J Clin Endocrinol Metab 2012;97:3068–78.10.1210/jc.2012-1616Search in Google Scholar PubMed

8. Canaris GJ, Manowitz NR, Mayor G, Ridgway EC. The Colorado thyroid disease prevalence study. Arch Intern Med 2000;160:526–34.10.1001/archinte.160.4.526Search in Google Scholar PubMed

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;87:489–99.10.1210/jcem.87.2.8182Search in Google Scholar PubMed

Received: 2019-05-19
Accepted: 2019-05-28
Published Online: 2019-07-06
Published in Print: 2019-08-27

©2019 Walter de Gruyter GmbH, Berlin/Boston

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