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Permanent neonatal diabetes mellitus in Jordan

  • Mousa A. Abujbara , Mohammed I. Liswi , Mohammed S. El-Khateeb , Sarah E. Flanagan , Sian Ellard und Kamel M. Ajlouni EMAIL logo
Veröffentlicht/Copyright: 13. Mai 2014
Journal of Pediatric Endocrinology and Metabolism
Aus der Zeitschrift Journal of Pediatric Endocrinology and Metabolism Band 27 Heft 9-10

Abstract

Objective: Permanent neonatal diabetes mellitus (PNDM) is a rare heterogeneous form of diabetes that develops within the first 6 months of life. The objective of this study is to define the genetic etiology and incidence of permanent neonatal diabetes mellitus in Jordan.

Methods: This study was conducted in Jordan at the National Center of Diabetes, Endocrinology and Genetics, Amman, between 2006 and 2012. The study included 22 cases diagnosed with diabetes within the first year of life.

Results: The incidence of PNDM in Jordan was calculated as one case for every 203,221 live births. Mutations were found in six out of ten cases diagnosed before 6 months and included one homozygous ABCC8 p.R826W mutation, three cases with a heterozygous KCNJ11 p.R201C mutation, and two cases with a homozygous EIF2AK3 splicing mutation.

Conclusion: The genetic etiology of PNDM in Jordan is different from that seen in European countries and more similar to other Arab countries.

Keywords: ABCC8 gene; EIF2AK3 gene; KCNJ11 gene; permanent neonatal diabetes
Corresponding author: Kamel M. Ajlouni, President of the National Center for Diabetes, Endocrinology and Genetics, P.O. Box 13165, Amman 11942, Jordan, Phone: +962 6 5347810, Fax: +962 6 535 66 70, E-mail:

Acknowledgments

We appreciate Ms. Khadijah Al-Rashed for her great help and assistance with the manuscript and data collection. We thank Dr. D.J.G. Mackay and colleagues, in the Faculty of Medicine, University of Southampton, Southampton, UK, who performed the genetic testing for chromosome 6q24 abnormalities. Professor Sian Ellard is a Wellcome Trust Senior Investigator.

Conflict of interest statement

The authors declare that they have no competing interests.

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Supplemental Material

The online version of this article (DOI: 10.1515/jpem-2014-0069) offers supplementary material, available to authorized users.

Received: 2014-2-7
Accepted: 2014-3-31
Published Online: 2014-5-13
Published in Print: 2014-9-20

©2014 by De Gruyter

Artikel in diesem Heft

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  2. Review article
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  4. Original articles
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https://doi.org/10.1515/jpem-2014-0069
Schlagwörter für diesen Artikel
ABCC8 gene; EIF2AK3 gene; KCNJ11 gene; permanent neonatal diabetes

Artikel in diesem Heft

  1. Frontmatter
  2. Review article
  3. Towards an optimization of the management of endocrine complications of thalassemia
  4. Original articles
  5. The natural course of Hashimoto’s thyroiditis in children and adolescents
  6. Muscle strength and body composition during the transition phase in patients treated with recombinant GH to final height
  7. Benign vaginal bleeding in 24 prepubertal patients: clinical, biochemical and imaging features
  8. Evaluation of epicardial adipose tissue, carotid intima-media thickness and ventricular functions in obese children and adolescents
  9. Counseling patients with succinate dehydrogenase subunit defects: genetics, preventive guidelines, and dealing with uncertainty
  10. Pubertal development profile in patients with Turner syndrome
  11. A novel CASR mutation associated with neonatal severe hyperparathyroidism transmitted as an autosomal recessive disorder
  12. Serum insulin-like growth factor-binding protein-3 level correlated with glycemic control and lipid profiles in children and adolescents with type 1 diabetes
  13. Adult human liver mesenchymal progenitor cells express phenylalanine hydroxylase
  14. Clinical applicability of rapid detection of SRY and DYS14 genes in patients with disorders of sex development using an indigenously developed 5′ exonuclease based assay
  15. Hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia in four Egyptian families: report of three novel mutations in the vitamin D receptor gene
  16. Permanent neonatal diabetes mellitus in Jordan
  17. The effect of adenotonsilectomy on ghrelin, leptin, IGF-1 levels and growth parameters in children with adenotonsillar hypertrophy
  18. The role of anti-Mullerian and inhibin B hormones in the evaluation of 46,XY disorders of sex development
  19. The evaluation of thyroid carcinoma in childhood and concomitance of autoimmune thyroid disorders
  20. Lipid patterns in treated growth hormone deficient children vs. short stature controls
  21. Assessment of aortic morphology and compliance in children and adolescents with Ullrich-Turner syndrome (UTS) using magnetic resonance imaging (MRI)
  22. Management of central diabetes insipidus with oral desmopressin lyophilisate in infants
  23. Maternal factors and complications of preterm birth associated with neonatal thyroid stimulating hormone
  24. Patient reports
  25. A rare case of pituitary infarction leading to spontaneous tumour resolution and CSF-sella syndrome in an 11-year-old girl and a review of the paediatric literature
  26. Rare case of homozygous epimerase deficiency and heterozygous of duarte 2 variant
  27. Persistent congenital hyperinsulinism in two patients with Beckwith-Wiedemann syndrome due to mosaic uniparental disomy 11p
  28. Growth hormone treatment in a patient with Hurler-Scheie syndrome
  29. Neonatal diagnosis of a patient with hypoparathyroidism, sensorineural deafness and renal dysplasia (HDR) syndrome associated with cerebral infarction
  30. Early-onset diabetes mellitus and neurodevelopmental retardation: the first Greek case of Wolcott-Rallison syndrome
  31. Type III Bartter-like syndrome in an infant boy with Gitelman syndrome and autosomal dominant familial neurohypophyseal diabetes insipidus
  32. Cushing’s syndrome: hidden risk in usage of topical corticosteroids
  33. Prader-Willi syndrome: a case report with atypical developmental features
  34. Berardinelli-Seip congenital lipodystrophy: an autosomal recessive disorder with rare association of duodenocolonic polyps
  35. Ectopic Cushing syndrome secondary to metastatic medullary thyroid cancer in a child with multiple endocrine neoplasia syndrome type 2B: clues to early diagnosis of the paraneoplastic syndromes
  36. Ovarian hyperstimulation syndrome treated by medroxyprogesterone acetate
  37. Symptomatic cerebral infarction in a child with severe diabetic ketoacidosis
  38. A rare case of familial Cushing’s syndrome with a common presentation of weight gain due to a mutation of the PRKAR1A gene causing isolated primary pigmented nodular adrenocortical disease
  39. Multiple autoimmunity, type 1 diabetes (T1DM), autoimmune thyroiditis and thyroid cancer: is there an association? A case report and literature review
  40. Cholestasis and protein-losing enteropathy secondary to hyperthyroidism in a 6-year-old girl
  41. Short communication
  42. An essential splice site mutation (c.317+1G>A) in the TSHR gene leads to severe thyroid dysgenesis
  43. Letter to the Editor
  44. Pubertal gynecomastia: what about the remaining 10%?
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