Document Detail

Transient salt wasting in POMC-deficiency due to infection induced stress.
MedLine Citation:
PMID:  19998238     Owner:  NLM     Status:  MEDLINE    
Obesity is a multifactorial disorder influenced by genetic, behavioral, environmental and cultural factors. A twelve month old male patient was admitted to the hospital because of malaise, irritability, disquietness and obesity. His BMI was 19.8 kg/m (2) and BMI SDS was 1.38. Mental development was normal, and motor skills were mildly delayed most probably due to his obesity. His physical examination was totally normal except obesity and red hair. A history of hypoglycemia on the fourth day of life, which resolved after oral glucose administration, was reported. The child had been hyperphagic from the first weeks of life and had aggressive behavior when food was denied. The body weight of the patient increased dramatically during the first year of life. Based on the clinical features and laboratory findings (the overgrowth syndrome, red hair, hypoglycemia and hypocortisolism) the patient was diagnosed as POMC deficiency and the diagnosis was confirmed by genetic studies. Hypoglycemia and apnea episodes ceased as he was put on hydrocortisone but he developed relative mineralocorticoid deficiency during a urinary tract infection. In POMC deficiency, relative mineralocorticoid deficiency should be in mind in episodes of severe stress and therapy should be initiated.
S Darcan; S Can; D Goksen; G Asar
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Publication Detail:
Type:  Case Reports; Journal Article     Date:  2009-12-08
Journal Detail:
Title:  Experimental and clinical endocrinology & diabetes : official journal, German Society of Endocrinology [and] German Diabetes Association     Volume:  118     ISSN:  1439-3646     ISO Abbreviation:  Exp. Clin. Endocrinol. Diabetes     Publication Date:  2010 Apr 
Date Detail:
Created Date:  2010-04-14     Completed Date:  2010-07-09     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9505926     Medline TA:  Exp Clin Endocrinol Diabetes     Country:  Germany    
Other Details:
Languages:  eng     Pagination:  281-3     Citation Subset:  IM    
Copyright Information:
(c) J. A. Barth Verlag in Georg Thieme Verlag KG Stuttgart. New York.
Ege University Faculty of Medicine, Pediatrics, Izmir, Turkey.
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MeSH Terms
Body Weight / genetics
Hair Color / genetics
Hyperphagia / genetics*
Obesity / genetics*
Pro-Opiomelanocortin / genetics*
Sodium / deficiency*
Urinary Tract Infections / genetics*
Reg. No./Substance:
66796-54-1/Pro-Opiomelanocortin; 7440-23-5/Sodium

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