A Turkish girl with H syndrome: stunted growth and development of autoimmune insulin dependent diabetes mellitus in the 6th year of diagnosis
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Abstract
Background
H syndrome ([OMIM] 602782) is an autosomal recessive disorder with systemic manifestations and characteristic skin lesions, caused by mutations of the SLC29A3 gene. Short stature and diabetes mellitus are the major endocrine problems related to H syndrome, however, clear data from clinical follow-up of H syndrome patients is lacking in the literature.
Case presentation
Here, we present follow-up of a Turkish girl diagnosed with H syndrome at the age of 10 with a homozygous 310(c.933T>A, p.C310X) early stop codon mutation on exon 6 of the SLC29A3 gene. She had severe short stature non-responsive to growth hormone (GH) treatment and gluten-free diet despite low GH levels and celiac antibody positivity. She developed insulin dependent diabetes mellitus (IDDM) symptoms 6 years after the initial diagnosis.
Conclusions
H syndrome patients can develop IDDM years after characteristic symptoms. Short stature in H syndrome patients may not respond to GH replacement or gluten-free diet alone.
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(s) 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.
References
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©2019 Walter de Gruyter GmbH, Berlin/Boston
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- Skin autofluorescence in children with and without obesity
- Utility of anthropometric indicators to screen for clustered cardiometabolic risk factors in children and adolescents
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- The effect of thyroid functions on osteopenia of prematurity in preterm infants
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- Sex assignment practice in disorders of sexual differentiation: survey results from paediatric endocrinologists in the Arab region
- Letter to the Editor
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- Case Reports
- Aromatase excess syndrome in a Chinese boy due to a novel duplication at 15q21.2
- A Turkish girl with H syndrome: stunted growth and development of autoimmune insulin dependent diabetes mellitus in the 6th year of diagnosis
- Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia
Articles in the same Issue
- Frontmatter
- Original Articles
- Status and trends in the use of insulin analogs, insulin delivery systems and their association with glycemic control: comparison of the two consecutive recent cohorts of Japanese children and adolescents with type 1 diabetes mellitus
- Utilizing serum bicarbonate instead of venous pH to transition from intravenous to subcutaneous insulin shortens the duration of insulin infusion in pediatric diabetic ketoacidosis
- Fatty pancreas in relation to insulin resistance and metabolic syndrome in children with obesity
- Adiponectin, leptin and high sensitivity C-reactive protein values in obese children – important markers for metabolic syndrome?
- No clinical utility of common polymorphisms in IGF1, IRS1, GCKR, PPARG, GCK1 and KCTD1 genes previously associated with insulin resistance in overweight children from Romania and Moldova
- Skin autofluorescence in children with and without obesity
- Utility of anthropometric indicators to screen for clustered cardiometabolic risk factors in children and adolescents
- Long-acting intramuscular ACTH stimulation test for the diagnosis of secondary adrenal insufficiency in children
- The effect of thyroid functions on osteopenia of prematurity in preterm infants
- Using the PHQ-9 and GAD-7 to screen for acute distress in transgender youth: findings from a pediatric endocrinology clinic
- Sex assignment practice in disorders of sexual differentiation: survey results from paediatric endocrinologists in the Arab region
- Letter to the Editor
- Columbus’ egg: a practical approach to nutritional management in maple syrup urine disease
- Case Reports
- Aromatase excess syndrome in a Chinese boy due to a novel duplication at 15q21.2
- A Turkish girl with H syndrome: stunted growth and development of autoimmune insulin dependent diabetes mellitus in the 6th year of diagnosis
- Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia
