范-维克-格鲁姆巴赫综合征与性腺切除术

Children Pub Date : 2024-07-08 DOI:10.3390/children11070831
A. Arellano-Llamas, Alvaro Hernandez-Caballero, Efren Delgado-Mendoza, Manuel Alejandro Catalán-Ruiz
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摘要

范-维克-格伦巴赫综合征(VWGS)是指出现外周性早熟、长期甲状腺功能低下和性腺肿块;如未确诊,可能会进行不必要的性腺切除术。在此,我们介绍一例患有唐氏综合征、身材矮小和白癜风的 10 岁女孩,她因阴道出血和可触及的盆腔肿块来我院就诊。经超声波和地形检查,发现双侧卵巢肿块,肿瘤标志物阴性。双侧性腺切除术后,内分泌检查发现了严重的甲状腺功能减退症和外周性青春期,从而诊断为 VWGS 综合征(促甲状腺激素 367.3 mUI/mL,月经稀发,检测不到 LH,雌二醇升高)。左甲状腺素治疗改善了肥胖和身材矮小的症状,13 岁时开始进行性激素替代治疗。有关范-维克-格鲁巴赫综合征的文献显示,该病多见于女性,典型的甲状腺功能减退症状总是出现在确诊之前。约11%的患者患有唐氏综合征,有时肿瘤标志物会升高,有些患者会出现严重症状(肌病、身材矮小、智力发育迟缓、腹水、心包积液、库伦征、垂体增生和严重贫血),对左甲状腺素治疗有反应。结论在对患有外周性早熟和性腺肿块的儿童做出任何根治性决定之前,必须对其进行甲状腺功能减退症研究。
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Van Wyk–Grumbach Syndrome and Gonadectomy
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.
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