A Japanese patient with congenital central hypothyroidism caused by a novel IGSF1 mutation
-
Takeshi Yamaguchi
,
Tomoyuki Hothubo
Abstract
Background:
IGSF1 abnormality causes diverse symptoms, including congenital central hypothyroidism (CCH), prolactin hyposecretion, testicular enlargement and delayed puberty.
Case presentation:
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.
Conclusions:
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.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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Articles in the same Issue
- Frontmatter
- Review
- Vitamin D deficiency in childhood: old lessons and current challenges
- Original Articles
- Brain gray matter volume differences in obese youth with type 2 diabetes: a pilot study
- Prevalence and clinical presentation at the onset of type 1 diabetes mellitus among children and adolescents in AL-Baha region, Saudi Arabia
- Whole blood viscosity and cerebral blood flow velocities in obese hypertensive or obese normotensive adolescents
- The utility of body mass index as an indicator for lipid abnormalities in non-fasting children
- Association of insulin-like growth factor-1 and IGF binding protein-3 with 25-hydroxy vitamin D in pre-pubertal and adolescent Indian girls
- The safety of Lipistart, a medium-chain triglyceride based formula, in the dietary treatment of long-chain fatty acid disorders: a phase I study
- Clinical follow-up data and the rate of development of precocious and rapidly progressive puberty in patients with premature thelarche
- Age of pubertal events among school girls in Lagos, Nigeria
- Evaluation of basal sex hormone levels for activation of the hypothalamic–pituitary–gonadal axis
- PHKG2 mutation spectrum in glycogen storage disease type IXc: a case report and review of the literature
- Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey
- Case Reports
- Emergence of insulin resistance following empirical glibenclamide therapy: a case report of neonatal diabetes with a recessive INS gene mutation
- A rare unbalanced Y:autosome translocation in a Turner syndrome patient
- A Japanese patient with congenital central hypothyroidism caused by a novel IGSF1 mutation
- Growth, sexual and bone development in a boy with bilateral anorchia under testosterone treatment guided by the development of his monozygotic twin
