Endocrine Abstracts

Introduction: Neonatal diabetes is a rare condition diagnosed within the first months of life. Activating mutation of KCNJ11, the gene encoding the Ki6.2 subunit of the ATP-sensitive potassium channel, is the most common cause of permanent neonatal diabetes, and ~20% of patients have neurological features.Patients with the severe neurological phenotype exhibit developmental delay, motor weakness, and epilepsy in addition to diabetes (DEND syndrome). Inte...

Introduction: Androgen-producing tumors are a rare cause of hyperandrogenism (±0.2%). Ovarian steroid cell tumors represent <0.1% of all ovarian tumors. They may present at any age and in 12–50% of cases are associated with virilization. The majority of these tumors are benign or low-grade malignanies.Clinical case: A 74-year-old female patient, with history of vaginal hysterectomy for genital prolapse at the age of 50, is referred to Endoc...