Kabuki syndrome is a clinically and genetically heterogeneous congenital malformation syndrome with protean clinical manifestations. This reflects the important epigenetic role in embryonic development of the two genes currently known to be associated with Kabuki syndrome i.e., KMT2D and KDM6A, which are responsible for Kabuki syndrome 1 and Kabuki syndrome 2, respectively. Hypoglycemia is thou...

OBJECTIVE To determine whether hyperinsulinism affects cytochrome P450c17 alpha activity by investigating the correlation between 17-hydroxyprogesterone (17-OHP) hyper-responsiveness to the gonadotropin-releasing hormone (GnRH) agonist, buserelin, and the insulin response to oral glucose in polycystic ovary syndrome (PCOS). DESIGN Ultrasound, clinical and hormonal parameters were used to defi...

OBJECTIVE Congenital hyperinsulinemic hypoglycemia is a group of genetic disorders of insulin secretion most commonly associated with inactivating mutations of the β-cell ATP-sensitive K(+) channel (K(ATP) channel) genes ABCC8 (SUR1) and KCNJ11 (Kir6.2). Recessive mutations of these genes cause hyperinsulinism that is unresponsive to treatment with diazoxide, a channel agonist. Dominant K(ATP) ...

background: diazoxide is the main therapeutic agent for congenital hyperinsulinism. the drug is generally well tolerated; however, in this report severe adverse effects including heart failure (hf) and pulmonary hypertension (ph) in an infant are reported.case report: a sixteen-day male infant with persistent hypoglycemia and with diagnosis of congenital hyperinsulinism underwent near total pan...

Introduction. Congenital hyperinsulinism (HI) is a hereditary disease characterized by inadequate insulin hypersecretion pancreatic beta-cells and leading to hypoglycemia. The prevalence of HI in European countries on average 1:30,000 - 1:50,000 live births. Despite its low prevalence, one the main causes persistent hypoglycemia children first year life.The aim study demonstrate current clinica...