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Abstract：
Van Wyk-Grumbach syndrome (VWGS) refers to the development of peripheral precocious puberty, long-standing hypothyroidism, and gonadal masses; when not diagnosed, an unnecessary gonadectomy may be performed. Herein, we present a case of a 10-year-old girl with Down\'s syndrome, short stature, and vitiligo who presented to our hospital with vaginal bleeding and a palpable pelvic mass. Upon ultrasound and topographical examination, bilateral ovarian masses with negative tumor markers were detected. After bilateral gonadectomy, endocrine studies revealed profound hypothyroidism and peripheral puberty that led to the VWGS syndrome diagnosis (TSH 367.3 mUI/mL, isolated menstruation, indetectable LH, and elevated estradiol). Levothyroxine treatment improved obesity and short stature, and sexual hormone replacement began at 13 years of age. The literature on Van Wyk-Grumbach syndrome shows that it presents most often in women, and classic hypothyroidism symptoms always precede the diagnosis. Approximately 11% of patients have Down\'s syndrome, sometimes tumor markers are elevated, and some develop severe symptoms (myopathy, short stature, mental delay, ascites, pericardial effusion, Cullen\'s sign, pituitary hyperplasia, and severe anemia) that respond to levothyroxine treatment. Conclusions: Children with peripheral precocious puberty and gonadal masses must be studied for hypothyroidism before any radical decision is made.
摘要：
VanWyk-Grumbach综合征（VWGS）是指周围性早熟的发展，长期的甲状腺功能减退症，和性腺肿块；当没有诊断时，可能会进行不必要的性腺切除术。在这里，我们介绍一个10岁女孩患有唐氏综合症,身材矮小,和白癜风，出现阴道出血和明显的盆腔肿块。超声和地形检查后，检测到肿瘤标志物阴性的双侧卵巢肿块。双侧性腺切除术后，内分泌研究显示深度甲状腺功能减退症和周围青春期导致VWGS综合征诊断（TSH367.3mUI/mL，孤立的月经，检测不到LH，和雌二醇升高）。左甲状腺素治疗改善肥胖和身材矮小，和性激素替代开始于13岁。关于VanWyk-Grumbach综合征的文献表明，它最常见于女性，和典型的甲状腺功能减退症状总是在诊断之前。大约11%的患者患有唐氏综合症,有时肿瘤标志物升高，和一些发展严重的症状（肌病，身材矮小,精神延迟，腹水,心包积液,卡伦的标志,垂体增生,和严重贫血）对左甲状腺素治疗有反应。结论：在做出任何彻底决定之前，必须对周围性早熟和性腺肿块的儿童进行甲状腺功能减退症的研究。
