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Unexpected clinical features in a female patient with proopiomelanocortin (POMC) deficiency

  • Samim Özen EMAIL logo , Nurhan Özcan , Sema Kalkan Uçar , Damla Gökşen and Şükran Darcan
Published/Copyright: December 13, 2014
Journal of Pediatric Endocrinology and Metabolism
From the journal Journal of Pediatric Endocrinology and Metabolism Volume 28 Issue 5-6

Abstract

Background/aims: Loss of function mutations of proopiomelanocortin (POMC) gene results in adrenal insufficiency, early-onset hyperphagic obesity, and red hair. However, neuromotor retardation with POMC deficiency has not been reported before.

Case report: We report a female patient whose initial diagnosis was neurometabolic disease because of motor mental retardation, ataxia, and bilateral hyperintense lesions in the basal ganglia in cranial magnetic resonance imaging, increased lactate-lipid peak in proton magnetic resonance spectroscopy. She was consulted due to rapid weight gain, obesity, and episodes of hypoglycemia and homozygous mutation (c.64delA) in POMC gene was found.

Conclusion: Severe motor mental retardation and cranial magnetic resonance imagingpathology in patients with POMC deficiency have not been reported previously in the literature. Bilateral hyperintense lesions in the basal ganglia and the increased lactate-lipid peak was thought to be the result of recurrent hypoglycemia.

Keywords: hypoglycemia; neuromotor retardation; POMC deficiency
Corresponding author: Samim Özen, Associate Professor, Faculty of Medicine, Department of Pediatric Endocrinology, School of Medicine, Ege University, Bornova, Izmir 35100, Turkey, Phone: +90-232-390-1230, Fax: +90-232-388-6366, E-mail:

Acknowledgments

We thank to Heiko Krude for molecular genetic analysis.

References

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Received: 2014-7-30
Accepted: 2014-10-22
Published Online: 2014-12-13
Published in Print: 2015-5-1

©2015 by De Gruyter

Articles in the same Issue

  1. Frontmatter
  2. Highlight: Obesity
  3. Childhood obesity at the crossroads
  4. Obesogenic environments: environmental approaches to obesity prevention
  5. Childhood obesity and eating behaviour
  6. Hypothalamic obesity in children: pathophysiology to clinical management
  7. The reliability of body mass index in the diagnosis of obesity and metabolic risk in children
  8. Determining abdominal obesity cut-offs and relevant risk factors for anthropometric indices in Turkish children and adolescents
  9. The effect of body mass index on blood pressure varies by race among obese children
  10. Insulin secretion response during oral glucose tolerance test is related to low cardiorespiratory fitness in obese adolescents
  11. Is there a relationship between cardiovascular risk factors and dehydroepiandrosterone sulfate levels in childhood obesity?
  12. The effect of lifestyle change and metformin therapy on serum arylesterase and paraoxonase activity in obese children
  13. Childhood obesity, thyroid function, and insulin resistance – is there a link? A longitudinal study
  14. Associations between IGF-I, IGF-binding proteins and bone turnover markers in prepubertal obese children
  15. Osteocalcin is inversely associated with adiposity and leptin in adolescent boys
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  17. Insulin resistance and cardiometabolic risk factors in obese children and adolescents: a hierarchical approach
  18. The role of apolipoprotein E polymorphism in improving dyslipidemia in obese adolescents following physical exercise and National Cholesterol Education Program Step II intervention
  19. Review article
  20. Is ultrasound useful in the diagnosis of adolescents with polycystic ovary syndrome?
  21. Original articles
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  23. Early screening of FTO and MC4R variants in newborns of Greek origin
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  25. The prevalence of vitamin D deficiency among schoolchildren: a cohort study from Xinxiang, China
  26. Management of testosterone therapy in adolescents and young men with hypogonadism: are we following adult clinical practice guidelines?
  27. Vitamin D status and its associations with components of metabolic syndrome in healthy children
  28. Metformin treatment improves weight and dyslipidemia in children with metabolic syndrome
  29. Patient reports
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  31. Ovarian carcinoma in a 14-year-old with classical salt-wasting congenital adrenal hyperplasia and bilateral adrenalectomy
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  34. Ovotesticular disorder of sex development with unusual karyotype: patient report
  35. First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China
  36. Virilizing adrenal oncocytoma in a 9-year-old girl: rare neoplasm with an intriguing postoperative course
  37. Unexpected clinical features in a female patient with proopiomelanocortin (POMC) deficiency
  38. Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation
  39. Cross-reactivity of adrenal steroids with aldosterone may prevent the accurate diagnosis of congenital adrenal hyperplasia
  40. Hyperthyroidism hidden by congenital central hypoventilation syndrome
  41. The use of pamidronate for acute vitamin D intoxication, clinical experience with three cases
  42. Chondrocalcinosis related to familial hypomagnesemia with hypercalciuria and nephrocalcinosis
  43. Cushing syndrome related to leukemic infiltration of the central nervous system
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https://doi.org/10.1515/jpem-2014-0324
Keywords for this article
hypoglycemia; neuromotor retardation; POMC deficiency

Articles in the same Issue

  1. Frontmatter
  2. Highlight: Obesity
  3. Childhood obesity at the crossroads
  4. Obesogenic environments: environmental approaches to obesity prevention
  5. Childhood obesity and eating behaviour
  6. Hypothalamic obesity in children: pathophysiology to clinical management
  7. The reliability of body mass index in the diagnosis of obesity and metabolic risk in children
  8. Determining abdominal obesity cut-offs and relevant risk factors for anthropometric indices in Turkish children and adolescents
  9. The effect of body mass index on blood pressure varies by race among obese children
  10. Insulin secretion response during oral glucose tolerance test is related to low cardiorespiratory fitness in obese adolescents
  11. Is there a relationship between cardiovascular risk factors and dehydroepiandrosterone sulfate levels in childhood obesity?
  12. The effect of lifestyle change and metformin therapy on serum arylesterase and paraoxonase activity in obese children
  13. Childhood obesity, thyroid function, and insulin resistance – is there a link? A longitudinal study
  14. Associations between IGF-I, IGF-binding proteins and bone turnover markers in prepubertal obese children
  15. Osteocalcin is inversely associated with adiposity and leptin in adolescent boys
  16. Association between cardiovascular risk factors and carotid intima-media thickness in prepubertal Brazilian children
  17. Insulin resistance and cardiometabolic risk factors in obese children and adolescents: a hierarchical approach
  18. The role of apolipoprotein E polymorphism in improving dyslipidemia in obese adolescents following physical exercise and National Cholesterol Education Program Step II intervention
  19. Review article
  20. Is ultrasound useful in the diagnosis of adolescents with polycystic ovary syndrome?
  21. Original articles
  22. IGF-II expression and methylation in small for gestational age infants
  23. Early screening of FTO and MC4R variants in newborns of Greek origin
  24. Pitfalls in hormonal diagnosis of 17-beta hydroxysteroid dehydrogenase III deficiency
  25. The prevalence of vitamin D deficiency among schoolchildren: a cohort study from Xinxiang, China
  26. Management of testosterone therapy in adolescents and young men with hypogonadism: are we following adult clinical practice guidelines?
  27. Vitamin D status and its associations with components of metabolic syndrome in healthy children
  28. Metformin treatment improves weight and dyslipidemia in children with metabolic syndrome
  29. Patient reports
  30. Hypothyroidism caused by the combination of two heterozygous mutations: one in the TSH receptor gene the other in the DUOX2 gene
  31. Ovarian carcinoma in a 14-year-old with classical salt-wasting congenital adrenal hyperplasia and bilateral adrenalectomy
  32. An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening
  33. A new missense mutation in the BCKDHB gene causes the classic form of maple syrup urine disease (MSUD)
  34. Ovotesticular disorder of sex development with unusual karyotype: patient report
  35. First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China
  36. Virilizing adrenal oncocytoma in a 9-year-old girl: rare neoplasm with an intriguing postoperative course
  37. Unexpected clinical features in a female patient with proopiomelanocortin (POMC) deficiency
  38. Sirolimus therapy in a patient with severe hyperinsulinaemic hypoglycaemia due to a compound heterozygous ABCC8 gene mutation
  39. Cross-reactivity of adrenal steroids with aldosterone may prevent the accurate diagnosis of congenital adrenal hyperplasia
  40. Hyperthyroidism hidden by congenital central hypoventilation syndrome
  41. The use of pamidronate for acute vitamin D intoxication, clinical experience with three cases
  42. Chondrocalcinosis related to familial hypomagnesemia with hypercalciuria and nephrocalcinosis
  43. Cushing syndrome related to leukemic infiltration of the central nervous system
  44. Hashimoto’s encephalopathy: a rare pediatric brain disease
  45. Short communication
  46. A novel ABCD1 gene mutation in a Chinese patient with X-linked adrenoleukodystrophy
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