ESPE Abstracts

Background: Adrenal Insufficiency (AI) is a heterogeneous diagnosis comprising multiple central and peripheral causes. The unifying feature is the requirement for glucocorticoid replacement and subsequent risk of life-threatening Adrenal Crisis (AC) and Adrenal Death (AD). Very few studies have investigated rates of AD in children. Multiple studies have reported symptoms of children with AC as interpreted by medical staff but no studies have looked at parental...

Background: overexpression of the oncogene Yes-associated protein 1 (YAP1), a Hippo pathway target, associates with increased cell proliferation in some human cancers. There is not data on adrenocortical tumors (ACT). YAP1 is a potential target of Wnt/β-catenin pathway, which plays an important role in ACTs.Objective and hypotheses: to evaluate the role of YAP1 and its interaction with the Wnt/β-catenin pathway in ACT.Met...

We present the case of a now 11 years old girl with the ultra-rare severe insulin resistance Rabson-Mendenhall syndrome due to the previously undescribed compound heterozygous mutations exon 16: c.2986A>G (Paternal) and intron 9: c.2029+1G>T (maternal) of the insulin receptor gene. The phenotypic findings were composed of dystrophy (birth weight 1970g, small for gestational age), hyperglycemia (up to 400mg/dl), severe acanthosis nigricans and mild cardiac septal hyperpla...

Context: Pubertal timing in boys is associated with body mass index (BMI). Studies consistently report an inverse correlation of BMI and pubertal timing within the normal BMI range. However, observations in obese boys are conflicting with different studies reporting either early or delayed pubertal onset in obese boys.Objectives: We aimed to assess the association of clinically assessed initial milestones of male puberty...

Background: Somapacitan is a reversible albumin-binding growth hormone (GH) derivative developed for once-weekly administration in patients with GH deficiency (GHD). It consists of a human GH backbone, similar to endogenous human GH, with one amino acid substitution, attached to an albumin binder via a linker chain.Objective: Absorption, metabolism and excretion (AME) of somapacitan were investigated in a Phase 1 trial (...

Introduction: Congenital disorder of glycosylation type-1a is a multi-system disease involving neurological, gastrointestinal, ophthalmologic, cardiac or endocrine systems. In addition to hypothyroidism and hypergonadotropic hypogonadism, rare occurrences of hyperinsulinemic hypoglycemia in CDG patients have been reported. In the present report, we describe a patient diagnosed with CDG type-1a accompanied by hyperinsulinemic hypoglycemia, and whose responsive to diazoxide....

Background: Individuals with androgen insensitivity syndrome (AIS) have an increased risk for developing a germ cell cancer (GCC). The risk is low during childhood; therefore, gonads are commonly preserved until after puberty. Little is known about GCC development in AIS during adulthood. This question is particularly relevant as many adult AIS women decline gonadectomy.Objective and hypotheses: To gain insight in attitudes towards gonadectomy in various...

Background: In 1968 a cytogenetics laboratory was established at the University Hospital, Reykjavik and has since then served as the only chromosomal laboratory for all hospitals and physicians in Iceland. Our current aim was to study the physical features, congenital anomalies and various clinical outcomes in Icelandic females, diagnosed with Turner syndrome (TS) for the period of 1968–2012.Method: Data was obtained from hospital records, from all ...

Background: Children born small for gestational age (SGA) exhibit wide variations in the activity of growth hormone (GH)/insulin–like growth factor–I (IGF-I) axis and this heterogeneity may result in supra physiological concentrations of IGF-I during GH treatment. The long-term effects of elevated IGF-I levels has been a matter of concern. We explored the variations in total IGF-I and bioactive IGF-I and the associations with growth and glucose metab...

Background: Thymus transplantation is undertaken for conditions associated with severe immunodeficiency. These comprise a number of genetic and syndromic associations including 22q deletion syndrome, CHARGE association, diabetic embryopathy, and other rarer conditions. These conditions may also be associated with hypoparathyroidism and patients are therefore at risk of severe hypocalcaemia. There are no published guidelines for calcium replacement in these patients during the ...