ESPE Abstracts

Background: Pycnodysostosis is a rare recessive condition with mutation in the cathepsin K gene, causing reduction in bone reabsorption resulting in abnormally dense and fragile bones. Characteristic features include deformity of the skull, maxilla causing craniofacial, dental abnormalities with skeletal changes and short stature. Growth hormone therapy has been attempted in a small group of patients with Pycnodysostosis to promote final adult height, however has not been show...

Background: Hyperinsulinaemic hypoglycaemia (HH) is a common cause of hypoglycaemia in children. Glucagon is an important counter-regulatory hormone and the role of somatostatin is not known in children with HH.Objective and hypotheses: To understand the roles of glucagon and somatostatin in children with HH.Method: Children admitted for management of HH in our hospital were included in the study. Plasma insulin, glucagon and somat...

Background: Several previous publications have documented the usefulness of Nifedipine for treating hyperinsulinaemic hypoglycaemia (HI). These reports include transient and persistent forms of HI, with and without known genetics, used in monotherapy or in combination with other drugs, and demonstrate various outcomes.Objective and hypotheses: To systematically trial Nifedipine in children with known HI mutations and diazoxide unresponsive, assessing gly...

Background: Costello syndrome may be associated with Hyperinsulinaemic Hypoglycaemia (HI), but this is usually a mild medically-responsive form.Objective and hypotheses: To describe the clinical characteristics, biochemical findings and challenging management of a case of Costello syndrome with severe HI.Method: Review of the patient’s medical records.Results: Male, born to non-consanguineous healthy par...

Background: Hypogonadotrophic hypogonadism (HH) is a complex developmental disorder characterized by a reduction in gonadotrophins (LH, FSH) released from the anterior pituitary. LH and FSH stimulate the ovaries or testes to release sex hormones that cause the onset of puberty, therefore delay in onset or complete absence of puberty is seen in the phenotype, often accompanied by short stature and genital abnormalities. When anosmia accompanies HH in the phenotype it is termed ...

Background: Congenital hyperinsulinism (CHI) causes severe hypoglycaemia in children, due to dysregulated insulin secretion from pancreatic β-cells. Glucagon, secreted from the pancreatic α-cells, is critical for blood glucose homeostasis. Somatostatin is secreted by Δ-cells of the islets and by extraislet neuroendocrine cells. Exogenous somatostatin potently inhibits insulin and glucagon release from pancreatic islets. Under normal physiological conditions, low...

Background: Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycaemia in the neonatal period, characterized by unregulated insulin secretion by pancreatic β-cells. In addition to medical therapy, frequent feeding to prevent hypoglycaemia is one of the most important aspects in the management of CHI.Objective and hypotheses: To identify the number of patients with CHI who have associated feeding difficulties and determine ...

Background: Familial glucocorticoid deficiency (FGD) is a rare and potentially life-threatening disease, characterized by adrenal insufficiency without mineralocorticoid deficiency. It is diagnosed during the neonatal period but also in childhood. Manifestations are recurrent hypoglycemia, seizures or even coma, chronic fatigue, recurrent infections and skin hyperpigmentation. Mutations on mineralocorticoid receptor 2 (MC2R) gene and on melanocortin-2 receptor accesso...

Background: Since the late 1960’s, pubertal breast staging has been based on Tanner’s classification. Appearance of glandular breast tissue may be difficult to distinguish by palpation from the surrounding subcutaneous fat tissue, especially in obese girls. To our knowledge, validation of the clinical assessment of pubertal stages by MRI quantification of glandular breast tissue has never been performed.Objective and hypotheses: i) To report no...

Background: In humans, loss-of-function mutations in Nicotinamide nucleotide transhydrogenase (NNT) cause familial glucocorticoid deficiency, a potentially fatal, adrenal-specific disorder characterized by increased ACTH and reduced cortisol levels. NNT is a highly conserved inner mitochondrial membrane protein, which supplies high concentrations of NADPH for detoxification of reactive oxygen species (ROS) by glutathione and thioredoxin pathways.<p class="abstext"...