Home Medicine A family with Camurati-Engelman disease: the role of the missense p.R218C mutation in TGFbeta1 in bones and endocrine glands
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A family with Camurati-Engelman disease: the role of the missense p.R218C mutation in TGFbeta1 in bones and endocrine glands

  • Meropi Toumba EMAIL logo , Vassos Neocleous , Christos Shammas , Violetta Anastasiadou , Jeremy Allgrove , Leonidas A. Phylactou and Nicos Skordis
Published/Copyright: July 12, 2013
Journal of Pediatric Endocrinology and Metabolism
From the journal Journal of Pediatric Endocrinology and Metabolism Volume 26 Issue 11-12

Abstract

Objectives: Camurati-Engelmann disease (CED) is a rare form of progressive diaphyseal dysplasia as a result of mutations in the transforming growth factor gene TGFbeta1 on chromosome 19q13.1-q13.3. Endocrine complications such as osteoporosis, vitamin D deficiency, delayed puberty, and hypogonadotrophic hypogonadism may be present.

Methods: Genetic analysis of the TGFbeta1 gene revealed a heterozygous missense mutation p.R218C in exon 4 of chromosome 19q13.1-q13.3 in a 14-year-old girl who presented with typical symptoms of CED, hyperprolactinaemia, and menstrual irregularity.

Results: The patient responded well to prednisone 5 mg/kg/day, as well as calcium and vitamin D supplements.

Conclusions: The role of p.R218C in TGFbeta1 on the mechanism of the disease, and the complications of it in bones and endocrine glands, remains unclear. Early recognition as well as a detailed understanding of the pathogenesis of the disease are important for future treatment options and a better quality of life of such patients.

Keywords: bone; Camurati-Engelmann; dysplasia; TGFbeta1
Corresponding author: Meropi Toumba, MD, Department of Paediatrics, IASIS Hospital, 8036, Paphos, Cyprus, Phone: +357 99573633, Fax: +357 26848300, E-mail: ; and Paediatric Endocrine Unit, Makarios III Hospital, Nicosia, Cyprus

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Received: 2013-4-16
Accepted: 2013-6-12
Published Online: 2013-07-12
Published in Print: 2013-11-01

©2013 by Walter de Gruyter Berlin Boston

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  38. Central precocious puberty in a girl with Prader-Willi syndrome
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https://doi.org/10.1515/jpem-2013-0150
Keywords for this article
bone; Camurati-Engelmann; dysplasia; TGFbeta1

Articles in the same Issue

  1. Masthead
  2. Masthead
  3. Review article
  4. Application of imaging modalities for evaluating neuroblastoma
  5. Images in pediatric endocrinology
  6. Lingual thyroid
  7. Original articles
  8. A levothyroxine dose recommendation for the treatment of children and adolescents with autoimmune thyroiditis induced hypothyroidism
  9. Fasting glucagon-like peptide-1 in patients with overt hyperthyroidism and euthyroid congenital hypothyroidism
  10. Perinatal complications and higher risks of offspring thyroid dysfunction in early childhood of Graves’ disease mothers with euthyroidism
  11. Clinical characteristics and management of cranial diabetes insipidus in infants
  12. Desmopressin administration in children with central diabetes insipidus: a retrospective review
  13. An electronic surveillance system for monitoring the hospital presentation of nutritional vitamin D deficiency in children in Scotland
  14. Frequency and severity of ketoacidosis at onset of autoimmune type 1 diabetes over the past decade in children referred to a tertiary paediatric care centre: potential impact of a national programme highlighted
  15. Vitamin D status is associated with early markers of cardiovascular disease in prepubertal children
  16. Evaluation of bone mineral density in children with type 1 diabetes mellitus
  17. Observational study of diabetes management in type 1 diabetic school-age children during holiday versus school days
  18. Relationship of body mass index and GAD65 antibody status on β-cell secretion at diabetes onset in African-American children
  19. Serum dipeptidyl peptidase 4 activity in children with type 1 diabetes mellitus
  20. Concomitant autoantibodies in newly diagnosed diabetic children with transient celiac serology or proven celiac disease
  21. Assessment of user-friendliness of the Norditropin FlexPro for pediatric patients treated with recombinant human growth hormone: results of an open-label user survey
  22. Cognitive impairment and gray/white matter volume abnormalities in pediatric patients with Turner syndrome presenting with various karyotypes
  23. Prevalence of metabolic syndrome among urban Indian adolescents and its relation with insulin resistance (HOMA-IR)
  24. Prevalence of metabolic syndrome in obese Chilean children and association with gene variants of the leptin-melanocortin system
  25. Evaluation of serum neopterin levels and its relationship with adipokines in pediatric obesity-related nonalcoholic fatty liver disease and healthy adolescents
  26. Could GSD type I expand the spectrum of disorders with elevated plasma chitotriosidase activity?
  27. Patient reports
  28. Treatment of hyperinsulinemic hypoglycemia because of diffuse nesidioblastosis with nifedipine after surgical therapies in a newborn
  29. Successful subcutaneous glucagon use for persistent hypoglycaemia in congenital hyperinsulinism
  30. A novel atypical presentation of insulin autoimmune syndrome (Hirata’s disease) in a child
  31. Diagnosis of septo-optic dysplasia in a neonate with hypernatremia, hypoglycemia, and persistent hypothermia
  32. Speech and language delay in two children: an unusual presentation of hyperthyroidism
  33. Lissencephaly presenting with congenital hypothyroidism
  34. PHEX gene mutation in a Chinese family with six cases of X-linked hypophosphatemic rickets
  35. Primary hyperparathyroidism as an extremely rare cause of secondary myelofibrosis in childhood
  36. A family with Camurati-Engelman disease: the role of the missense p.R218C mutation in TGFbeta1 in bones and endocrine glands
  37. A case of SCNN1A splicing mutation presenting as mild systemic pseudohypoaldosteronism type 1
  38. Central precocious puberty in a girl with Prader-Willi syndrome
  39. Type 1 diabetes mellitus in a patient with homozygous sickle cell anemia
  40. Short communication
  41. No impact of obesity susceptibility loci on weight regain after a lifestyle intervention in overweight children
  42. Letter to the Editor
  43. Reliability and validity of homeostasis model assessment for insulin resistance and β-cell dysfunction in critically ill children with hyperglycemia
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