不同核型特纳综合征2例并文献复习

Two Cases of Different Karyotypic Turner Syndromes and Literature Review

摘要: 目的：研究不同核型特纳综合征(TS)的临床特点及诊治过程。方法：对本院收治的2例不同核型TS患儿的临床特征、诊疗经过进行回顾总结并结合文献进行分析。结果：两例TS患儿均表现为身材矮小及性腺发育不良，同时合并生长激素缺乏症(GHD)、维生素D缺乏、桥本甲状腺炎及高尿酸血症。例1患儿为单体型，向心性肥胖，且存在高胰岛素血症及胰岛素抵抗，鞍区MR增强显示垂体后份囊性小结节，对该患儿性腺发育基因再分析发现2个未报道的MCM3AP基因突变：c.4927G > A (p.G1643S)和c.2524C > G (p.Q842E)。例2患儿为TS嵌合型，合并原发性甲状腺功能亢进症(Graves病)。两例患儿经雌激素治疗后子宫及卵巢发育，例2患儿月经来潮。结论：不同类型TS临床表现差异很大，临床中应加强鉴别，尽早诊断并发现其存在的合并症。

Abstract: Objective: To study the clinical characteristics, diagnosis and treatment process of Turner syn-drome (TS) with different karyotypes. Methods: The clinical characteristics, diagnosis and treat-ment of two children with different karyotypes of TS admitted to our hospital were retrospectively summarized and analyzed combined with the literature. Results: Both children with TS presented with short stature and gonadal dysgenesis, combined with growth hormone deficiency (GHD), vita-min D deficiency, Hashimoto’s thyroiditis and hyperuricemia. In case 1, the child with haplotype had centripetal obesity, hyperinsulinemia and insulin resistance. MR enhancement of the saddle area showed posterior pituitary cystic nodules, and genetic reanalysis of gonadal development in this child revealed two unreported mutations in the MCM3AP gene: c.4927G > A (p.G1643S) and c.2524C > G (p.Q842E). In case 2, the child with mosaicism combined with primary hyperthyroidism (Graves’ disease). The uterus and ovaries developed after estrogen treatment in both children, and menstruation occurred in case 2. Conclusion: The clinical manifestations of different types of TS vary greatly, and the differentiation should be strengthened in the clinic to diagnose and detect the presence of comorbidities as early as possible.