Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Obesity, adrenal insufficiency, and red hair due to POMC deficiency

Mutations in the POMC gene can lead to a deficiency accompanied by adrenal insufficiency, obesity, and redhairedness.

Systematic

Disorders of the steroid hormone system
ACTH-independent macronodular adrenal hyperplasia 1
ACTH-independent macronodular adrenal hyperplasia 2
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
Disorder of the aldosterone system
Disordered steroidogenesis due to POR deficiency
Glucocorticoid resistance
Obesity, adrenal insufficiency, and red hair due to POMC deficiency
POMC

References:

1.

Krude H et. al. (1998) Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans.

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2.

Yaswen L et. al. (1999) Obesity in the mouse model of pro-opiomelanocortin deficiency responds to peripheral melanocortin.

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3.

Krude H et. al. (2003) Obesity due to proopiomelanocortin deficiency: three new cases and treatment trials with thyroid hormone and ACTH4-10.

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Update: Sept. 26, 2018