Background: Prohormone convertase is an enzyme that converts many biologically inactive prohormones into biologically active peptides. Its deficiency is characterized by deficiency of variable levels in all the hormone systems. In relation to this, postprandial hypoglycemia has been reported but, a case of prohormone convertase deficiency presenting with a diagnosis Type 2 diabetes mellitus has not been previously reported.
Case presentation: A 14-year-old girl referred with complain of obesity. On the basis of her laboratory tests results, the patient was diagnosed with type 2 diabetes mellitus. Prohormone convertase deficiency was considered due to the history of resistant diarrhea in the period of infancy in her history and her rapid weight gain. Her proinsulin level at diagnosis was > 700 pmol/L (3.60-22). We noticed that c.685G> T (p.V229F) homozygous mutationin the PCSK1 gene which was not reported related with this disease before.
Conclusions: We concluded that it is important to consider the diagnosis of prohormone convertase deficiency in infants with recurrent resistant diarrhea during infancy. Our case demonstrated that if obesity starts to develop after childhood associated with recurrent serious diarrhea episodes in the history, diagnosis should be considered.
19 - 21 Sep 2019
European Society for Paediatric Endocrinology