ESPE Abstracts

Background: Congenital hyperinsulinism (CHI) is a cause of severe persistent hypoglycaemia in children. Diazoxide is the first line medical therapy for CHI; however diazoxide is usually ineffective in CHI with KATP channel gene mutations. Patients with no mutations in the KATP channel genes do respond to therapy with diazoxide. There are no previous studies assessing how long diazoxide therapy is needed in those patients with no genetic aetiology identifi...

Background: Congenital Hyperinsulinism (CHI) is the most common cause of recurrent and severe hypoglycaemia in childhood and can be broadly categorised into two subtypes. Diffuse CHI (CHI-D) involving all pancreatic cells is usually treated with medications and rarely subtotal pancreatectomy. Focal CHI (CHI-F) involves a solitary insulin hypersecreting pancreatic lesion and can be cured following surgical lesionectomy. Many patients with CHI-F and CHI-D underg...

Background: Pituitary gland duplication is a very rare developmental abnormality. It is often associated with other midline anomalies including cleft palate, spinal cord and corpus callosum defects, termed duplication of the pituitary gland-plus syndrome. Of the only 40 cases reported in the literature, most are in females and are often associated with precocious puberty. Duplication of the pituitary gland may arise from blastogenesis defects, with splitting o...

Introduction: Congenital Hyperinsulinism (CHI) is a rare disease of hypoglycaemia due to excess insulin production. Patients with both focal and diffuse forms of CHI may have severe hypoglycaemia not responsive to medical therapies. Such patients require lesionectomy or subtotal pancreatectomy with a corresponding necessity for enhanced glycaemic monitoring during the peri-operative period. Subcutaneous Continuous Glucose Monitoring (CGM) provides real-time hi...

Background: The efficacy of growth hormone (GH) treatment in short, healthy children diagnosed with growth hormone deficiency (GHD) or those meeting the criteria of idiopathic short stature (ISS) suggest that an overlap exists between these two conditions. Although flawed and inconsistent, growth hormone stimulation tests (GHST) are the key diagnostic tool differentiating between GHD and ISS affecting clinical decisions such as treatment eligibility and dose.<...

Introduction: Bardet-Biedl syndrome (BBS) is a rare, autosomal recessive ciliopathy, with a prevalence of 1 in 100,000 – 160,000, caused by mutations across >20 known genes encoding for proteins responsible for the integrity of the primary cilium/basal body complex. Endocrinopathies associated with BBS include hypogonadism, hypothyroidism, and the metabolic complications of obesity. The endocrine characteristics of a large adult BBS cohort have been r...

Background: Hypothalamic-pituitary (HP) deficiencies are frequent in childhood brain tumor survivors (CBTS) after cranial radiation. There is currently no consensus on the most optimal way to screen for HP dysfunction regarding diagnostic tests or time interval. It is not known whether MRI changes in time in the HP-region or in brain volume are predictive of HP dysfunction.Aim: To quantify changes in the HP-region and in brain volume on MRI in CBTS after...

Background: FOP is an ultra-rare, severely disabling genetic disorder characterised by progressive heterotopic ossification (HO) following flare-ups. The median age at diagnosis is 5 years, and patients are managed by multiple specialties. No study to date has provided a longitudinal evaluation of FOP. Final data are presented for participants, aged <25 years, enrolled in the first 36-month, prospective, global natural history study of FOP (NCT02322255).</...

Background: Heat generation in UCP-1 active cells as present in brown adipose tissue contributes to the regulation of energy homeostasis. Brown adipose tissue is known to be present in neonates and infants and has recently also been demonstrated in children and adults. Interestingly, a transition of white adipocytes into a brown phenotype has been documented in vitro in mouse and human cells, yet the underlying mechanisms are still not resolved. Using transcriptome an...

Background: X-linked hypophosphatemia (XLH) is a rare genetic disorder of phosphate metabolism caused by mutations in the PHEX gene. XLH patients exhibit short stature and skeletal deformities, which are caused by defective bone mineralization site leading to increased porosity and decreased matrix stiffness. Bone mineral density measurements have been shown to be insensitive to the cumulative bone alterations. The velocity of the first arriving signal (vFAS) ...