Pro-opiomelanocortin (POMC) Deficiency
Pro-opiomelanocortin (POMC) Deficiency
OMIM number: 609734
Comments closing date: 30/06/2025
Patients affected with POMC-deficiency develop
severe obesity in early life due to to hyperphagia
(incessant hunger) and underactive adrenal gland,
resulting in low production of adrenocorticotropic
hormone (ACTH). ACTH is crucial in regulating the
body's cortisol levels - which is important in
managing feels of stress and stress response,
regulating the sleep / wake cycle and regulating
blood sugar levels. Gonadotropin deficiency will
usually cause failure to enter puberty. Patients
also have melanocyte-stimulating hormone (MSH)
deficiency. MSH helps to develop pigmentation,
with MSH being deficient, patients are usually very
pale in complexion. MSH is also key in regulating
appetite, contributing to the hyperphagia and
weight gain in early life. Liver issues can be
present, such as cholestasis (build-up of bile
causing organ inflammation), or even liver failure
in the neonatal period. If unmanaged this can lead
directly to death.
Review date: 28 May 2027
