Van Wyk-Grumbach综合征1例并文献复习

Van Wyk-Grumbach syndrome: A case report and literature review

Van Wyk-Grumbach综合征是以性早熟和多发卵巢囊肿为特征的原发甲状腺功能减退症的一种特殊表型。中南大学湘雅三医院内分泌科收治了1例以月经紊乱为主诉的13岁Van Wyk-Grumbach综合征患儿,其临床表现包括原发性甲状腺功能减退、性早熟、多发卵巢囊肿和垂体瘤。患者在接受甲状腺素替代治疗后,上述临床症状和实验室检查均明显改善,卵巢囊肿和垂体瘤消失。Van Wyk-Grumbach综合征临床表现较为特殊,易误诊为垂体瘤和卵巢肿瘤,掌握本病的临床特点有助于避免误诊误治。

Van Wyk-Grumbach syndrome （VWGS） is a rare complication of prolonged untreated juvenile hypothyroidism characterized by precocious puberty and enlarged multicystic ovaries. A 13-yearold girl visited our outpatient clinic due to menstrual irregularities. She had precocious puberty, pituitary hyperplasia and multiple cystic ovaries in addition to clinical signs of severe congenital hypothyroidism. After the initiation of L-thyroxine therap）5 the symptoms were alleviated in a short time. This rare syndrome is easy to be misdiagnosed, as pituitary and ovarian tumor. High degree of suspicion and timely diagnosis can prevent unnecessary surgical procedures because the symptoms can be reversed with thvroid hnrmone supplementation.