DOI: http://dx.doi.org/10.18203/2349-3291.ijcp20210668

Hypo-cortisolism, early onset obesity and liver disease in a child with homozygous proopiomelanocortin mutation

Rajesh Joshi, Krishna Malagi

Abstract


The peptide derivatives of proopiomelanocortin molecule are involved in energy homeostasis, regulation of food intake, skin pigmentation and augment biliary flow. Homozygous mutation in POMC gene, which is inherited in an autosomal recessive pattern, is associated with hyperphagia leading to early onset obesity, hypoglycaemia and neonatal cholestasis due to cortisol deficiency and red hair pigmentation as a result of alpha MSH deficiency. We report a child having multiple episodes of hypoglycemia with this disorder who presented like liver disease. Our case report highlights the importance of early suspicion of this rare condition and confirmation with genetic analysis.


Keywords


Proopiomelanocortin, Cortisol, Obesity, Hyperphagia, Cholestasis

Full Text:

PDF

References


Lerner AB. The discovery of melanotropins, a history of pituitary endocrinology. Ann New York Acad Sci. 1993;680:1-12.

Owerbach D, Rutter WJ, Roberts JL, Whitfeld P, Shine J, Seeburg PH, et al. The proopiocortin (adrenocorticotropin/ beta-lipoprotein) gene is located on chromosome 2 in humans. Somat Cell Mol Genet. 1981;7:359-69.

Krude H, Biebermann H, Luck W, Horn R, Brabant G, Gruters A. Severe early-onset obesity, adrenal insufficiency and red hair pigmentation caused by POMC mutations in humans. Nat Genet. 1998;19: 155-7.

Valverde P, Healy E, Jackson I, Rees JL, Thody AJ. Variants of the melanocyte-stimulating hormone receptor gene are associated with red hair and fair skin in humans. Nat Genet. 1995;11(3):328-30.

Schaffer JV, Bolognia JL. The melanocortin-1 receptor: red hair and beyond. Arch Dermatol. 2001; 137(11):1477-85.

Xia Y, Wikberg JE. Localization of ACTH receptor mRNA by in situ hybridization in mouse adrenal gland. Cell Tissue Res. 1996 Oct;286(1):63-8.

Farooqi IS, Drop S, Clements A, Keogh JM, Biernacka J, Lowenbein S, Challis BG, O'Rahilly S. Heterozygosity for a POMC-null mutation and increased obesity risk in humans. Diabetes. 2006;55 (9):2549-53.

Lanes R, Blanchette V, Edwin C, Zahka K, Lee PA, Pakula LC, MacLean WC Jr, Plotnick LP. Congenital hypopituitarism and conjugated hyperbilirubinemia in two infants. Am J Dis Child. 1978;132(9):926-8.

Choo-Kang LR, Sun CC, Counts DR. Cholestasis and hypoglycemia: manifestations of congenital anterior hypopituitarism. J Clin Endocrinol Metab. 1996;81:2786-9.