Zhang Jing, Mu Kai, Xu Haiyan, Guo Yuehua, Liu Zhijie, Wang Liling, Li Jiahui, Zhang Fengjuan, Kou Yan, Yuan Xin
Department of Pediatrics, Shandong Provincial Qianfoshan Hospital, The First Hospital Affiliated with Shandong First Medical University.
Department of Pediatrics, Shandong Provincial Qianfoshan Hospital, Shandong University, Jinan, P.R. China.
Medicine (Baltimore). 2019 Oct;98(43):e17616. doi: 10.1097/MD.0000000000017616.
Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is caused by mutations in GPC3 or in both GPC3 and GPC4. Physical manifestations of SGBS1 include fetal overgrowth and macrostomia, macroglossia. Subclinical hypothyroidism has never been reported in SGBS1 cases.
An 8-days-old boy was referred to our hospital with persistent hypoglycemia and special facies. And the infant showed elevated levels of thyroid-stimulating hormone (TSH). Free T4 and free T3 were normal.
Definitive diagnosis of SGBS1 depends on clinical features and genetic testing. A nonsense mutation (c.1515C > A, p. Cys505*) was tested by whole-exome sequencing.
Normal blood glucose levels were maintained with glucose infusions. Levothyroxine was given to the patient for treating subclinical hypothyroidism.
The parents decided to abandon the treatment of the patient. We learned that the patient died of a lung infection by a telephone follow-up.
Subclinical hypothyroidism could be added to the known clinical manifestations of SGBS1.
1型辛普森-戈拉比-贝梅尔综合征（SGBS1）由GPC3或GPC3与GPC4两者的突变引起。SGBS1的身体表现包括胎儿过度生长、巨口症、巨舌症。SGBS1病例中从未有过亚临床甲状腺功能减退的报道。
一名8日龄男婴因持续性低血糖和特殊面容被转诊至我院。该婴儿促甲状腺激素（TSH）水平升高。游离T4和游离T3正常。
SGBS1的确诊取决于临床特征和基因检测。通过全外显子组测序检测到一个无义突变（c.1515C＞A，p.Cys505*）。
通过输注葡萄糖维持正常血糖水平。给予患者左甲状腺素治疗亚临床甲状腺功能减退。
患儿家长决定放弃对患儿的治疗。通过电话随访得知患儿死于肺部感染。
亚临床甲状腺功能减退可补充到SGBS1已知的临床表现中。
