ESPE Abstracts

Background: The congenital disorders of glycosylation (CDG) are a group of genetic diseases owed to defects in the biosynthesis of glycoproteins and other glycoconjugates. Phosphoglucomutase type 1(PGM1) deficiency is classified among the CDG. Varied range of clinical manifestations recently described includes hepatopathy, bifid uvula, malignant hyperthermia, hypogonadotropic hypogonadism, growth retardation, hypoglycaemia, myopathy, dilated cardiomyopathy, and cardiac arrest,...

Background: A growing list of genes has been implicated in the pathogenesis of congenital hypogonadotropic hypogonadism (HH).Objective and hypotheses: To identify the cause of a unique syndromic HH in a consanguineous Bedouin family.Method: Medical records of the patients were reviewed. Genotyping of the brothers and their parents and whole exome sequencing (WES) were performed.Results: Two brothers presented...

Aims: Do-It-Yourself Artificial Pancreas Systems (DIYAPS) represent a unique patient-initiated treatment in which commercially available and approved medical devices such as continuous glucose monitoring systems (CGMs) and insulin pumps are connected by an off-label algorithm, and are remotely controlled by open-source algorithms to automate insulin delivery. While these systems are co-created by the DIYAPS community, and access is open to everyone, users have...

Background: Congenital combined pituitary hormone deficiency (CPHD) is a spectrum of disorders characterized by deficiencies in one or more pituitary hormones, ranging from isolated hormone deficiencies to complex hypopituitarism and severe midline developmental disorders. This study investigates the relationships between clinical features, laboratory findings, MRI results, and neurodevelopmental outcomes in patients with CPHD.Me...

Background: More than half of newborns with central congenital hypothyroidism (C-CH) have moderate-to-severe hypothyroidism in the neonatal phase, requiring immediate thyroxine therapy to prevent brain damage. The Israeli newborn screening for CH is based on the measurement of total T4 (TT4) followed by TSH measurement. However, when TSH is within the normal range the physicians are not informed of the results and therefore the diagnosis of C-CH and initiation...