【摘要】 一例13岁6个月女童因月经未初潮就诊，实验室检查提示卵泡刺激素及黄体生成素增高，抗米勒管激素降低，盆腔超声未发现双侧卵巢，条索状子宫。进一步完善患儿妹妹检查，与先证者表型类似，可诊断为原发性卵巢发育不全。全外显子组测序及家系桑格测序结果提示，患儿及妹妹均携带HROB基因c.718C>T(p.Arg240*)及c.1351C>T(p.Arg451*)杂合变异，分别遗传自父母亲，符合常染色体隐性遗传规律。先证者予以起始剂量0.125 mg/d戊酸雌二醇口服，半年后第二性征开始发育。更多还原

【Abstract】 A 13-year and 6-month-old girl attended the Hunan Children’s Hospital due to delayed menarche. The laboratory test results indicated increased follicle-stimulating hormone and luteinizing hormone, decreased anti-Mullerian hormone, and pelvic ultrasound showed a cord-like uterus and absence of bilateral ovaries. Her 11-year and 5-month-old younger sister had the same laboratory and imaging findings, and both girls were diagnosed with primary ovarian insufficiency. Whole exome sequencing and Sanger sequencing confirmed that the proband and her sister carried heterozygous variants of HROB gene c.718C>T(p.Arg240*) and c.1351C>T(p.Arg451*), which were inherited from their parents respectively and consistent with autosomal recessive inheritance. Oral estradiol valerate at an initial dose of 0.125 mg/d was given to the proband, and the secondary sexual characteristics began to develop after 6 months.更多还原