Congenital hyperinsulinism in a neonate due to a novel homozygous mutation [ABCC8]: a case report

Congenital hyperinsulinism [CHI], a clinically and genetically heterogeneous disease, is the most common cause of persistent hypoglycemia in infancy. It is characterized by the unregulated secretion of insulin from pancreatic beta-cells in relation to blood glucose concentration. The most common form of CHI is associated with autosomal recessive mutations in genes ABCC8 and KCNJ11, encoding the two subunits of the pancreatic beta-cells ATP sensitive potassium channel [KATP]. When the disease presents in the neonatal period, early diagnosis and maintenance of normoglycaemia are essential to prevent adverse neurodevelopmental outcomes. Prenatal diagnosis of CHI with a know mutation is a promising new avenue which will ensure early and appropriate postnatal intervention and improved long term outcome. We report a case of neonatal CHI due to homozygous recessive mutation in the ABCC8 gene. The parents were asymptomatic carriers of ABCC8 gene. A review of literature and update on the genetics of the disease is presented in this article

Virilization in a female neonate due to increased maternal androgens

Virilization in a female newborn is usually due to congenital adrenal hyperplasia and requires immediate diagnosis and treatment. A full-term female infant born with ambiguous genitalia was admitted for evaluation. We identified Prader stage 2, normal serum testosterone, normal 17-hydroxyprogesterone and normal female karyotyping [46XX]. The mother had virilization during the first trimester and was found to have elevated serum testosterone on the second day of delivery. High maternal serum testosterone levels can result in virilization in a female newborn and we emphasize the need to consider possible underlying maternal pathology in evaluating such cases