Lim Han Hyuk, Kil Hong Ryang, Kim Jae Young
Department of Pediatrics, Chungnam National University School of Medicine, 33 Munhwa-ro, Joong-gu, Daejeon 301-721, Republic of Korea.
J Pediatr Endocrinol Metab. 2012;25(11-12):1209-12. doi: 10.1515/jpem-2012-0195.
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.
范·怀克-格伦巴赫综合征是一种罕见疾病，其特征为性早熟伴长期甲状腺功能减退及多囊性卵巢增大。一名9岁唐氏综合征女孩因初潮过早前来我院就诊。出生时，她表现为亚临床甲状腺功能减退[甲状腺素（T4）11.8μg/dL，促甲状腺激素（TSH）6.05μIU/mL]，但未在我院接受随访。体格检查时，性发育坦纳分期为乳房Ⅱ期、阴毛Ⅰ期。实验室检查结果如下：游离T4 0.30ng/dL，TSH 81.30μIU/mL，促黄体生成素0.1IU/L，促卵泡生成素6.35IU/L。她的骨龄为6岁。盆腔超声检查显示双侧增大的卵巢内有多个囊肿。她被诊断为范·怀克-格伦巴赫综合征。开始给予左甲状腺素治疗，剂量为50mg/m²/天。2个月后乳房发育消退，阴道出血未再复发。
