ESPE Abstracts

Background: Resistance to thyroid hormones (RTH) is a rare disease, characterized by reduced sensitivity of target tissues to thyroid hormones. Pathognomonically, thyroid hormones are moderately elevated, whereas TSH levels are inappropriately normal or elevated. Over 100 thyroid hormone receptor beta (THRB) mutations have been reported, which are found in around 85% of RTH cases. Hypercholesterolemia was not previously reported in RTH patients....

Background: Primary generalized glucocorticoid resistance (PGGR) is a rare genetic condition characterised by generalised, partial target-tissue insensitivity to glucocorticoids owing to inactivating mutations of the NR3C1 gene.Case presentation: An 8.5-year-old boy was hospitalized because of precocious puberty and arterial hypertension. Over the last year, the appearance of pubic hair and gynecomastia were noted. At the local centre, high leve...

Background: Triple A (Allgrove syndrome) is a rare, autosomal recessive disorder characterized by the alacrimia, achalasia, and adrenal insufficiency triad. Alacrimia starts in early infancy, while achalasia and adrenal insufficiency appear subsequently during childhood or adulthood. We are presenting an infant with very early and simultaneous clinical manifestations of triple A syndrome.Case presentation: An 11-month-ol...

Introduction: Children with congenital adrenal hyperplasia (CAH) and adrenal insufficiency (AI) rely on lifelong hormone replacement with hydrocortisone (HC). Alkindi® is the first HC licensed for children from birth to 18 years with AI, available in small doses of 0.5, 1, 2 and 5mg required for the needs of neonates, infants and children.Objectives: Primary: long-term safety of Alkindi®; Secondary: long-term d...

Introduction: Small for gestational age (SGA) is a common condition affecting around 10% of all newborns, and it is associated with an increased risk of short stature and other health problems later in life. Growth hormone deficiency (GHD) is a well-known cause of growth failure in children, and it is estimated to affect approximately 1 in 4.000-10.000 children. However, the prevalence of GHD in SGA children with short stature is not well established. Early de...

Human growth results from an increase in cell size, cell division and amount of interstitium and is determined by the complex interplay of genetic and environmental factors. Over the last 14 years our group has been studying growth through the genetic interrogation of rare individuals presenting with syndromic overgrowth defined as an increased height and/or head circumference, compared to the age-related peer group, in combination with an intellectual disability. In the years...

Introduction: Since 1960, enlarged polycystic ovaries associated with hypothyroidism, delayed bone age and precocious puberty are recognized as Van Wyk and Grumbach syndrome. Although it is rare entity, it should be considered in differential diagnosis of the enlarged polycystic ovaries.Case: An eleven-year-old girl was presented with sudden onset of abdominal pain and vomiting. A large mass with multiple cysts was seen ...

Context: Alkindi® (Hydrocortisone Granules, Diurnal Ltd, UK), was recently licensed for oral administration to children with adrenal insufficiency (AI) from birth to 18 years. Previously, children received compounded hydrocortisone to achieve age appropriate dosing, however almost 25% of batches were out of specification for mass and content uniformity and clinically evident under- and over-dosing was reported.Objectives: Primary: long-te...

Context: Children with congenital adrenal hyperplasia (CAH) and adrenal insufficiency (AI) require hydrocortisone replacement from birth. Continuous monitoring of therapy during growth is necessary. Until now, children were dependent on off label use with divided hydrocortisone tablets or pharmacy compounded capsules. A licensed paediatric formulation that allows accurate dosing down to 0.5mg is now available.Objective: ...

Nicotinamide nucleotide transhydrogenase (NNT) is expressed in the heart, thyroid, and testicles, where it maintains the balance of reactive oxygen species in the mitochondria. It is linked, by an insufficiently described mechanism, to primary adrenal insufficiency (PAI) with or without mineralocorticoid insufficiency and several extra-adrenal manifestations (i.e. gonadal adrenal rest tumors, cardiomyopathy, hypothyroidism, and precocious puberty). A comprehensive and chronolo...