A Novel Presentation of Proopiomelanocortin (POMC) Deficiency

Cohen L, Feuer A and Bergstrom K

Department of Pediatrics, Weill Cornell Medical College, USA

^*Correspondance to: Lilian Cohen 

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Abstract:

Proopiomelanocortin (POMC) deficiency is a rare form of monogenic obesity which typically presents in infancy with hypoglycemic seizures and reduced cutaneous pigmentation. Over time, these patients develop morbid obesity along with multiple endocrinopathies including adrenal insufficiency, hypogonadism, hypothyroidism and growth hormone deficiency. Here, we describe an 11 year old male with adrenal insufficiency, seizure disorder, morbid obesity, and intellectual disability of unknown etiology recently confirmed to have POMC deficiency based on whole-exome sequencing (WES). This case highlights the advances in molecular genetic testing and opportunities for diagnosis in patients with complex medical histories or atypical clinical manifestations.

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Cite the Article:

Cohen L, Feuer A, Bergstrom K. A Novel Presentation of Proopiomelanocortin (POMC) Deficiency. Ann Clin Case Rep. 2016; 1: 1021.