Skip to content
Licensed Unlicensed Requires Authentication Published by De Gruyter October 11, 2012

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

  • Han Hyuk Lim EMAIL logo , Hong Ryang Kil and Jae Young Kim

Abstract

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.


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

Received: 2012-6-19
Accepted: 2012-8-24
Published Online: 2012-10-11
Published in Print: 2012-12-01

©2012 by Walter de Gruyter Berlin Boston

Downloaded on 29.3.2024 from https://www.degruyter.com/document/doi/10.1515/jpem-2012-0195/html
Scroll to top button