ESPE Abstracts

Background: Polycystic Ovary Syndrome (PCOS) is a common endocrine disorder among women of reproductive age and is characterised by chronic low-grade inflammation, ovulatory dysfunction and hyperandrogenism, and often by insulin resistance. The IGF system is involved in glucose metabolism regulation and is altered in chronic inflammation where both IGF-I and –II can be reduced. We previously described increased HMGB1 content in follicular fluid (FF) in P...

Introduction: Familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disease characterized by ACTH-resistant isolated cortisol deficiency. FGD usually presents with hypoglycemia, convulsions, prolonged jaundice, and marked skin hyperpigmentation in the early period of life. Several defects in MC2R, MRAP, MCM4, NNT, and TXNRD2 genes are related to FGD. In all these situations, plasma ACTH is high. By contrast, all reported cases of glucocorticoi...

Background: Psychosocial factors are important for patients with chronic diseases such as type 1 diabetes. Lack of social network and poor social support are risk factors that affect morbidity. Little is known about social network and social integration of families with children with type 1 diabetes.Objective and hypotheses: Aim was to explore the social network of families with young children with type 1 diabetes and to examine associations between indi...

Background: Despite having a significant impact on patient care and treatment success, nurses’ roles and responsibilities in growth disorder (GD) treatment varies substantially between countries and should be optimised.Objective and hypotheses: To understand the critical role nurses play in patient clinical outcomes and how they can improve the patient management pathway.Methods: Nurses involved in the care of patients with GD...

Introduction: Newborn premature infants are susceptible to develop relative adrenal insufficiency (AI) following transition from fetal to extrauterine life. Clinical signs of AI include hypoglycemia, dysbalanced electrolytes, fatigue and low blood pressure. Collecting serum cortisol samples itself is stressful for the infant, which challenges - in addition to analytic problems due to interference between fetal, placental and maternal derived steroids – th...

Objectives: X-linked hypophosphataemia (XLH) is a rare, hereditary phosphate-wasting disorder characterised by excessive activity of fibroblast growth factor 23. The International XLH Registry (NCT03193476) (initiated in August 2017, target 1,200 children and adults with XLH, running for 10 years) will provide information on the natural history of XLH and impact of treatment on patient outcomes. This report summarises baseline data from the first interim analy...

We report on a 17-year-old patient with hypoparathyroidism which was noticed during the diagnosis of a first renal colic a year and a half ago. At that time, a prevesical ureter stone on the right could be depicted sonographically, which disappeared spontaneously. Initially calcium levels in serum and urine were reported to be normal. However, a slight hypercalcemia and hypercalciuria as well as high normal vitamin D levels without vitamin D substitution were detected intermit...

Background: Pseudohypoparathyroidism is a rare congenital disorder presenting with variable symptoms and features. Since 2016 a new international nomenclature subclassifies the different forms of pseudohypoparathyreoidism as inactivating PTH/PTHrP signalling disorders (iPPSD). Pseudohypoparathyreoidism 1A (iPPSD2) and 1B (iPPSD3) are mainly characterized by resistance of parathyroid hormone (PTH) with high serum PTH levels and thyrotropin (TSH) resistance. In ...

People born with a variation in sex characteristics (VSC) face the challenge of having atypically sexed bodies. This quantitative study recruited 10 young adults with a VSC (14 to 24 years); 18 parents of children with a VSC; and 22 health professionals working in the VSC field. Interviews were semi structured, digitally recorded and transcribed. Using thematic analysis, we identified key themes regarding participants' experiences of health care decision-making. This study...

Background: Pseudohypoparathyroidism (Albright hereditary osteodystrophy (AHO)) is a rare congenital disorder mainly affecting bone and thyroid metabolism as a result of resistance of parathyroid hormone (PTH) and thyrotropin (TSH), gonadotropins, growth hormone-releasing hormone (GHRH) and calcitonin in the target tissues. According to the consensus statement "Diagnosis and management of pseudohypoparathyroidism and related disorders" published in 201...