History

An 11-year-old girl presented to the pediatric gastroenterology outpatient department of our institution with gradually increasing painless abdominal distention. The distention started 2 years earlier and was not associated with any other constitutional symptoms, vomiting, diarrhea, jaundice, hematemesis, or melaena. She reported early satiety and heaviness in the lower abdomen. The abdominal swelling was predominantly in the infraumbilical region and was soft at palpation. She was the first child of nonconsanguineous parents and had an uneventful perinatal course after a normal vaginal delivery. Her developmental milestones were normal. She had an average scholastic performance at school. There was no history of visual problems, seizures, or inappropriate behaviors. She had an early menarche 2 years previously. Her menstrual cycles were regular, and there was no abnormal vaginal discharge. Her breast development was normal (Tanner stage III), while pubic and axillary hair were absent (Tanner stage I). She was short for her age (104 cm; normal range, 120–154 cm). There was no history of short stature among her siblings or parents.

Laboratory investigations were performed to measure thyroid-stimulating hormone (1354.34 μIU/mL; normal range, 0.35–5.5 μIU/mL), triiodothyronine (<2.5 ng/dL [0.0385 pmol/L]; normal range, 100–200 ng/dL [1.54–3.08 pmol/L]), thyroxine (1.35 μg/dL [17.37 nmol/L]; normal range, 5–12 μg/dL [64.35–154.44 nmol/L]), β-human chorionic gonadotropin (<1.2 mIU/mL; normal, <5 mIU/mL), luteinizing hormone (0.08 mIU/mL; normal range, 0.1–6.0 mIU/mL), and follicle-stimulating hormone (6.93 mIU/mL; normal range, 0.3–2.0 mIU/mL) levels. Complete blood count was normal. An abdominal mass was suspected, and abdominopelvic CT was performed and followed by US; these examinations revealed multiple large cysts in both ovaries (Figs 1, 2A, 2B). The uterus was pubertal in shape, and endometrial thickness was 9 mm, representing normal follicular phase measurement. Serum CA-125 and inhibin levels were normal. To evaluate short stature, radiographs of the hand (Fig 3) and pelvis (Fig 3B) were obtained as part of a limited skeletal survey, keeping in mind the possible skeletal changes associated with hypothyroidism. In view of the hypothyroidism, US of neck was also performed (Fig 4). Treatment was started based on the clinical and radiologic parameters, and the child’s condition improved with medical treatment.

中文翻译：

---

案例 308

历史

一名 11 岁女孩因无痛性腹胀逐渐加重到我院儿科胃肠病门诊就诊。腹胀始于 2 年前，与任何其他全身症状、呕吐、腹泻、黄疸、呕血或黑便无关。她报告下腹部早饱和沉重。腹部肿胀主要在脐下区域，触诊时柔软。她是非近亲父母的第一个孩子，在正常阴道分娩后围产期顺利。她的发育里程碑是正常的。她在学校的学习成绩一般。没有视觉问题、癫痫发作或不当行为的病史。2年前初潮早。她的月经周期很规律，并且没有异常白带。她的乳房发育正常（Tanner 阶段 III），而阴毛和腋毛缺失（Tanner 阶段 I）。她比她的年龄矮（104 厘米；正常范围，120-154 厘米）。她的兄弟姐妹或父母中没有身材矮小的病史。

进行实验室调查以测量促甲状腺激素（1354.34 μIU/mL；正常范围，0.35–5.5 μIU/mL）、三碘甲状腺原氨酸（<2.5 ng/dL [0.0385 pmol/L]；正常范围，100–200 ng/dL [1.54–3.08 pmol/L])，甲状腺素 (1.35 μg/dL [17.37 nmol/L]；正常范围，5–12 μg/dL [64.35–154.44 nmol/L])，β-人绒毛膜促性腺激素 (<1.2 mIU/mL；正常，<5 mIU/mL），黄体生成素（0.08 mIU/mL；正常范围，0.1–6.0 mIU/mL）和卵泡刺激素（6.93 mIU/mL；正常范围，0.3–2.0 mIU） /mL) 水平。全血细胞计数正常。怀疑有腹部肿块，行腹盆腔CT，超声随访；这些检查显示两个卵巢中有多个大囊肿（图 1、2A、2B）。子宫为青春期形状，子宫内膜厚度为9毫米，代表正常的卵泡期测量值。血清 CA-125 和抑制素水平正常。为了评估身材矮小，手部（图 3）和骨盆（图 3B）的 X 光片是有限骨骼检查的一部分，同时要记住与甲状腺功能减退症相关的可能的骨骼变化。鉴于甲状腺功能减退，还进行了颈部超声检查（图 4）。根据临床和放射学参数开始治疗，通过药物治疗，孩子的病情有所改善。