Unusual presentations of a girl with Down syndrome: Van Wyk-Grumbach syndrome : Journal of Pediatric Endocrinology and Metabolism

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Journal of Pediatric Endocrinology and Metabolism

Editor-in-Chief: Kiess, Wieland

Ed. by Bereket, Abdullah / Cohen, Pinhas / Darendeliler, Feyza / Dattani, Mehul / Gustafsson, Jan / Luo, Feihong / Mericq, Veronica / Roth, Christian / Toppari, Jorma

Editorial Board Member: Battelino, Tadej / Buyukgebiz, Atilla / Cassorla, Fernando / Chrousos, George P. / Cutfield, Wayne / Fideleff, Hugo L. / Hershkovitz, Eli / Hiort, Olaf / LaFranchi, Stephen H. / Lanes M. D., Roberto / Mohn, Angelika / Root, Allen W. / Rosenfeld, Ron G. / Werther, George / Zadik, Zvi

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Unusual presentations of a girl with Down syndrome: Van Wyk-Grumbach syndrome

1 / Hong Ryang Kil1 / Jae Young Kim1

1Department of Pediatrics, Chungnam National University School of Medicine, Daejeon, Republic of Korea

Corresponding author: Han Hyuk Lim, MD, Department of Pediatrics, Chungnam National University School of Medicine, 33 Munhwa-ro, Joong-gu, Daejeon 301-721, Republic of Korea, Phone: +82-42-280-7825, Fax: +82-42-255-3158

Citation Information: Journal of Pediatric Endocrinology and Metabolism. Volume 25, Issue 11-12, Pages 1209–1212, ISSN (Online) 2191-0251, ISSN (Print) 0334-018X, DOI: 10.1515/jpem-2012-0195, October 2012

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Van Wyk-Grumbach syndrome is a rare disease characterized by precocious puberty associated with prolonged hypothyroidism and multicystic enlarged ovaries. A 9-year-old girl with Down syndrome visited our hospital for early menarche. At birth, she showed subclinical hypothyroidism [11.8 μg/dL of thyroxine (T4) and 6.05 μIU/mL of thyroid stimulating hormone (TSH)], but she had not been followed up in our clinic. On physical examination, pubertal Tanner stage was breast II and pubic hair I. Laboratory findings were as follows: 0.30 ng/dL of free T4, 81.30 μIU/mL of TSH, 0.1 IU/L of luteinizing hormone, and 6.35 IU/L of follicle-stimulating hormone. Her bone age was 6 years. Her pelvic sonogram revealed multiple cysts in both enlarged ovaries. She was diagnosed with Van Wyk-Grumbach syndrome. Levothyroxine treatment at a dose of 50 mg/m2/day was started. Regression of breast development was obtained after 2 months, and her vaginal bleeding did not recur.

Keywords: Down syndrome; hypothyroidism; precocious puberty

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