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Review
. 2021 Apr;57(4):484-490.
doi: 10.1111/jpc.15407. Epub 2021 Mar 5.

Proopiomelanocortin deficiency diagnosed in infancy in two boys and a review of the known cases

Lara E Graves  1 , Joseph M Khouri  2   3 , Peter Kristidis  4 , Charles F Verge  1   3
Affiliations
Review

Proopiomelanocortin deficiency diagnosed in infancy in two boys and a review of the known cases

Lara E Graves et al. J Paediatr Child Health. 2021 Apr.

Abstract

Proopiomelanocortin (POMC) deficiency is a rare monogenic disorder characterised by adrenocorticotropic hormone (ACTH) deficiency, red hair and hyperphagic obesity. Two unrelated cases presented with hypoglycaemia due to isolated ACTH deficiency in the neonatal period. POMC deficiency was suspected at age 2 years (c.133-2A>C) and at age 9 months (c.64del) due to infantile hyperphagic obesity. Neither patient had a convincing red hair phenotype at the time of diagnostic suspicion, illustrating the importance of suspecting POMC deficiency in isolated ACTH deficiency. Both patients have normal psychomotor development, whereas the only other reported case of c.64del had significant delay. This suggests, if ACTH deficiency is treated early in the neonatal period, that psychomotor retardation is not a part of the phenotype. We review 24 reported cases of POMC deficiency published to date. Although there is no current specific treatment for obesity in POMC deficiency, we anticipate that setmelanotide may be a useful future treatment option.

Keywords: adrenal insufficiency; infantile obesity; monogenic obesity; proopiomelanocortin.

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References

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