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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

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2191-0251
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Volume 30, Issue 2

Issues

Seven cases with Williams-Beuren syndrome: endocrine evaluation and long-term follow-up

Ayla Güven
  • Corresponding author
  • Göztepe Eğitim ve Araştırma Hastanesi, Çocuk Endokrin Kliniği, Dumlupınar Mahallesi, Dr. Erkin Caddesi, Kadıköy, Istanbul, Türkiye
  • Goztepe Education and Research Hospital, Pediatric Endocrine Clinic, Istanbul, Turkey
  • Amasya University Medical Faculty, Department of Pediatrics, Amasya, Turkey
  • Email
  • Other articles by this author:
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Published Online: 2017-01-13 | DOI: https://doi.org/10.1515/jpem-2016-0039

Abstract

Background:

Endocrine evaluation and long-term follow-up of seven (six male) patients with Williams-Beuren syndrome (WBS) are given.

Method:

Data were obtained from patients’ medical records. All patients underwent hormonal analyses and four of them underwent oral glucose tolerance test (OGTT).

Results:

They all had mild hypercalcemia. Three of them had overt hypothyroidism while subclinical hypothyroidism was detected in three patients. Four patients had thyroid hypoplasia and one had thyroid agenesis. Growth hormone deficiency (GHD) was determined in one patient. Impaired glucose tolerance (IGT) was found in three adolescents. All adolescents had early-onset puberty. The follow-up duration was 5.7±2.1 years. The mean growth velocity (GV) was 12.9±7.2 cm and 7.6±2 cm at the end of the first and second years of therapy, respectively. All patients had neurodevelopment retardation and were continuing to special education.

Conclusions:

Thyroid hypoplasia is common and agenesis can be seen in patients with WBS; therefore, thyroid hormones should be measured in the newborn period and annually. GHD should be kept in mind in patients with decreased GV. IGT might be detected in patients with WBS even in adolescence.

Keywords: growth hormone deficiency; hypothyroidism; impaired glucose tolerance; Williams-Beuren syndrome

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About the article

Corresponding author: Professor Dr. Ayla Güven, Göztepe Eğitim ve Araştırma Hastanesi, Çocuk Endokrin Kliniği, Dumlupınar Mahallesi, Dr. Erkin Caddesi, Kadıköy, Istanbul, Türkiye, Fax: 0216 566 4023


Received: 2016-01-31

Accepted: 2016-11-11

Published Online: 2017-01-13

Published in Print: 2017-02-01


Author contributions: All the authors have accepted responsibility for the entire content of this submitted article 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 30, Issue 2, Pages 159–165, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: https://doi.org/10.1515/jpem-2016-0039.

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