Yamaguchi Takeshi, Hothubo Tomoyuki, Morikawa Shuntaro, Nakamura Akie, Mori Toshihiko, Tajima Toshihiro
Department of Pediatrics, Hokkaido University School of Medicine, Kita-ku, Sapporo, Japan.
Sapporo Children's Endocrine Clinic, Chuo-ku, Sapporo, Japan.
J Pediatr Endocrinol Metab. 2018 Mar 28;31(3):355-359. doi: 10.1515/jpem-2017-0144.
IGSF1 abnormality causes diverse symptoms, including congenital central hypothyroidism (CCH), prolactin hyposecretion, testicular enlargement and delayed puberty.
Here, we report a case of a male patient who visited our hospital with a chief complaint of abdominal pain and short stature, in whom we identified a novel IGSF1 mutation. He was closely examined because of chronic constipation since infancy, persistent abdominal pain at 14 years of age and marked short stature (-4.7 standard deviation [SD] for normal Japanese boys). He was diagnosed with CCH. Decreased prolactin (PRL) secretion was also observed. IGSF1 analysis revealed a novel mutation at the splicing donor site (c.2065+1G>A) in intron 11. In silico analysis predicted this mutation to be a non-functional splice donor site. After thyroid hormone replacement, his thyroid function, constipation and growth rate improved.
This is the first report of a patient in whom constipation and short stature led to a diagnosis of CCH with a novel IGSF1 mutation.
IGSF1异常会导致多种症状，包括先天性中枢性甲状腺功能减退症（CCH）、催乳素分泌不足、睾丸增大和青春期延迟。
在此，我们报告一例男性患者，他因腹痛和身材矮小为主诉前来我院就诊，我们在该患者中发现了一种新的IGSF1突变。由于自婴儿期起就患有慢性便秘、14岁时持续腹痛且身材明显矮小（相对于正常日本男孩为-4.7标准差[SD]），对他进行了详细检查。他被诊断为CCH。还观察到催乳素（PRL）分泌减少。IGSF1分析显示在第11内含子的剪接供体位点存在一个新突变（c.2065+1G>A）。计算机分析预测该突变是一个无功能的剪接供体位点。甲状腺激素替代治疗后，他的甲状腺功能、便秘和生长速度均有所改善。
这是首例因便秘和身材矮小而诊断为CCH且伴有新的IGSF1突变的患者报告。
