ESPE Abstracts

Background: Metformin is increasingly used in pregnancy and passes the placenta. Data on long-term effect on the offspring is essentially lacking. We explored possible effects of intrauterine metformin exposure on metabolic health, in 8-years-old children of women with PCOS.Methods: Follow-up of children from the PregMet-study - an RCT comparing metformin (2000 mg) to placebo during PCOS pregnancies. The primary endpoint was Body Mass Index (BMI). Second...

Introduction: Hyperinsulinemic hypoglycemia (HH) is characterized by inappropriate insulin secretion from pancreatic β-cells despite low blood glucose levels. The most common mutations causing HH affect the KATP channel genes [ABCC8 (36.8%) and KCNJ11 (5.9%)]. This report shares the experience of transitioning from daily subcutaneous octreotide to long-acting octreotide-LAR in a patient with HH due to a KATP channel mutation.<p class...

Introduction: It has been suggested in the literature that gynecomastia may occur in patients with neurofibromatosis type 1 (NF-1) and may develop due to neurofibroma or stromal tissue hyperplasia. In this case study, we will share our experience of managing a patient diagnosed with NF-1 who developed gynecomastia before puberty.Case: A nine-year-old male patient with a diagnosis of NF-1 presented with complaintsof short...

Introduction: Spondyloepimetaphyseal dysplasia (SEMD) (OMIM 603546) is a skeletal dysplasia that may present with a number of characteristics, including short stature, joint dislocations with laxity, limb malalignment and spinal deformity. It is believed that mutations in the KIF22 (kinesinfamilymember22) gene (16p11.2) may be the cause of this condition. In this case, we will present a case of leptodactylic type SEMD due to a KIF22 mutation.<p class="abst...

Introduction: Neonatal diabetes mellitus (NDM) is a rare monogenic disease associated with genetic defects in pancreatic beta cell number and/or function. It can be divided into two forms: transient neonatal diabetes mellitus (TNDM) and permanent neonatal diabetes mellitus (PNDM). TNDM is usually diagnosed within the first month after birth and usually regresses before the age of one year, but may reappear during adolescence. In contrast, PNDM is a lifelong di...