Two siblings with congenital central hypothyroidism caused by a novel mutation in the IGSF1 gene
| Autor: | Koji Yokoyama, Masayo Yamazaki, Mizuki Kobayashi, Takanori Yamagata, Makiko Oguma, Toshihiro Tajima, Shuntaro Morikawa, Takeshi Yamaguchi |
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| Rok vydání: | 2018 |
| Předmět: |
0301 basic medicine
Psychomotor learning Mutation business.industry Endocrinology Diabetes and Metabolism Period (gene) Physiology Congenital central hypothyroidism 030209 endocrinology & metabolism Hypothermia medicine.disease_cause IGSF1 03 medical and health sciences 030104 developmental biology 0302 clinical medicine Endocrinology Pediatrics Perinatology and Child Health Failure to thrive Medicine Endocrine system medicine.symptom business hormones hormone substitutes and hormone antagonists |
| Zdroj: | Clinical Pediatric Endocrinology. 27:95-100 |
| ISSN: | 1347-7358 0918-5739 |
| DOI: | 10.1297/cpe.27.95 |
| Popis: | Genetic defects in the immunoglobulin superfamily member 1(IGSF1) protein are the cause of congenital central hypothyroidism (C-CH). Here we report two Japanese siblings with C-CH due to a novel IGSF1 mutation. The youngest brother showed a failure to thrive, hypothermia, and neonatal icterus six days after birth. Further endocrine evaluations led to the diagnosis of C-CH. In addition, PRL deficiency was later detected. In contrast, the elder brother did not show symptoms of severe hypothyroidism during the neonatal period, but he had been followed up by doctors due to psychomotor developmental delays since the age of 1 yr. At the age of 3 yr, he had low thyroxine and PRL levels and was also diagnosed with C-CH. Because of the C-CH and PRL deficiency, an IGSF1 deficiency was suspected. Sequence analysis of the IGSF1 gene identified a novel hemizygous mutation of p.Trp1173GlyfsTer8 (NM_001170961.1:c.3517del) in both siblings. In conclusion, the phenotypic severity of C-CH is different, even in siblings. Importantly, an IGSF1 deficiency may result in severe hypothyroidism during the neonatal period. |
| Databáze: | OpenAIRE |
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