Department of Pediatrics, Affiliated Hospital of Jiangnan University, Wuxi, China.
Gynecol Endocrinol. 2021 Feb;37(2):190-192. doi: 10.1080/09513590.2020.1827382. Epub 2020 Oct 5.
We report on a 6-year and 11-month old girl with short stature, microcephaly, proboscis nose, small teeth, left breast Tanner stage II, and nasopharynx adenoid hypertrophy. Her gestational age was 37 weeks and birth weight was 800 g. Her growth hormone peak was higher than 35.2 ng/ml, luteinizing hormone peak 8.97 IU/l, and blood glucose of 120 min 7.82 mmol/l in oral glucose tolerance test. Genetic testing revealed two novel heterozygous mutations in the gene, an insertion mutation at c.1828dupT (p.S610Ffs*32), and a splice site mutation at c.1207 + 1G>A, which were inherited from healthy carrier patients. This case shows that MOPDII can be associated with central precocious puberty and impaired glucose tolerance in addition to intrauterine growth restriction, postpartum growth defect, and microcephaly.
我们报告了一例 6 岁 11 个月的女孩，其特征为身材矮小、小头畸形、钩状鼻、小牙齿、左乳 Tanner Ⅱ期和鼻咽腺样体肥大。她的胎龄为 37 周，出生体重为 800 克。她的生长激素峰值高于 35.2ng/ml，促黄体生成激素峰值为 8.97IU/l，口服葡萄糖耐量试验 120 分钟时血糖为 7.82mmol/l。基因检测显示，该基因存在两个新的杂合突变，c.1828dupT（p.S610Ffs*32）的插入突变和 c.1207 + 1G>A 的剪接位点突变，这些突变均来自健康携带者患者。该病例表明，MOPDII 除了宫内生长受限、产后生长缺陷和小头畸形外，还可与中枢性性早熟和葡萄糖耐量受损相关。
