Introduction: The proopiomelanocortin is a polypeptide of many biologically active peptides involved in many key functions which have not yet been clarified. The mutation in the gene encoding this polypeptide is associated with a clinical trials characterized by early-onset obesity, terciary adrenal insufficiency, and alteration of pigmentation. Eight cases with known genetic mutation have been published.
Case report: Newborn male 27 days old from North African, was admitted because hypoglycemia since the fifth day of life. The red hair and pale skin was noted on physical examination. The results of the biochemical analysis: TSH and free T4 and electrolytes were normal. In the other hand: ACTH <5 pg/ml, 0.4 μg/dl cortisol, DHEAS <1 ng/ml, and plasma renin activity (PRA) 3.40 ng/ml per h (n: 0.23.3 ng/ml per h). Imaging MRI was normal. The glycemic profile was normalized after starting treatment with hydrocortisone and fludrocortisone. Genetics analysis revealed a novel homozygous mutation in the POMC gene, in exon 3. In the evolution presented increased appetite with significant weight gain at 2 years (BMI+6.66DS). Psychomotor development was accorded to the age.
Conclusions: We describe a new case of complete loss-of-function mutations of the POMC gene, manifested by the triad features of early obesity, hypocortisolism and pigmentation problems, despite not belonging to Caucasian ethnicity. A new mutation of the POMC gene is described. The analysis of the clinical characteristics of the patient can help the better understanding of the functions of these peptides, such as the leptin-melanocortin system, which could help in the understanding of obesity and possible therapeutic avenues.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology