ESPE Abstracts

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...

Drugs can interfere with immunoassays causing false measurements. Trientine (triethylene tetramine dihydrochloride) is a chelator of copper and is used in the treatment of patients with Wilson's disease as alternative for penicillamine. Trientine mainly increases urinary copper excretion leading to a negative copper balance. Serum concentrations of trientine reached under treatment are not known. This is the first report of an interference of trientine with two chemilumine...

Background: Hypothyroidism may be also a rare cause of acquired hypoceruloplasminemia. It has recently been underlined a role for thyroid hormone in the normal developmental regulation of ceruloplasmin (cp).Case presentation: A 3-year-old Caucasian girl was admitted to our clinic for recurrent pericarditis, fatigue and muscle weakness. Her family history was remarkable for Hashimoto’s thyroiditis and Graves disease. Her recent personal history was s...

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) ...

We report a term male with diazoxide-unresponsive congenital hyperinsulinism (CHI) (spontaneous conception, non-consanguineous, no family history). The patient did not have macroglossia, exomphalos or lateralised overgrowth (cardinal Beckwith-Wiedemann spectrum (BWSp) features) (1). There was no polyhydramnios, macrosomia, facial naevus simplex, ear creases/pits, diastasis recti or nephromegaly/hepatomegaly (suggestive BWSp features) (1).A targeted massi...

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Introduction: Hyperinsulinaemic Hypoglycaemia (HH) is one of the commonest causes of hypoglycaemia in infancy. It is characterised by hypoketotic, hypofattyacidaemic and hyperinsulinaemic hypoglycaemia. The molecular basis of HH includes defects in pathways that regulate insulin release; to date, 12 genes have been associated with monogenic forms of HH (ABCC8, KCNJ11, GLUD1, GCK, HADH1, UCP2, MCT1, HNF4A, HNF1A, HK1, PGM1, PMM2). However, no genetic aetiology has been...

Background: GLIS3 is a transcription factor involved in the development of pancreatic β-cells, the thyroid, eyes, liver and kidneys. In the pancreas, GLIS3 is expressed at various stages of ductal and endocrine cell development, and is a critical regulator of β-cell development and insulin expression. Mutations in GLIS3 have been recently described as a rare cause of neonatal diabetes and congenital hypothyroidism (CH), reported in only 20 ...