ESPE Abstracts

Background: For adult patients who do not meet indications to surgery, the calcimimetic cinacalcet is approved for primary hyperparathyroidism (HPT), decreasing calcium and parathyroid hormone (PTH) levels. This drug is largely used in adults, but may be a challenge in daily practice in children, because of the risk of hypocalcemia, increased QT interval and drug interactions. A few pediatric cases have highlighted its potential interest in children with HPT; ...

Background: Disproportionate short stature is seen in most individuals with X-linked hypophosphatemia (XLH). Vitamin D and phosphate supplementation can improve growth slightly. Burosumab showed minimal improvement of growth in older children. No growth data of XLH children that started burosumab at a very young age, i.e., between 1 and 4 years, are available.Methods: We included 17 XLH children (11 boys) who started bur...

Background: Previous descriptions of the steroidogenic capacity of human foetal adrenal glands in an ex vivo culture system focused on the classic androgen pathway and the alternative DHT pathway. However, no information is available on the abundance and role of the adrenal-derived 11-oxygenated androgens during foetal development, and how their levels correlate to classic androgens.Aim: To characterise the ster...

Background: Resistance to thyroid hormone (RTHβ) is a rare disease caused by an inactivating mutation in the thyroid hormone receptor beta gene (THRB). This condition leads to elevated thyroid hormone levels with non-suppressed TSH levels. The clinical phenotype is highly variable, ranging from asymptomatic to signs of hyperthyroidism and/or hypothyroidism. This study analysed the genotype and phenotype of paediatric and adult patients followed in three B...

Purpose: Prader-Willi syndrome is a rare genetic neurodevelopmental condition characterized by cognitive disabilities, behavioural problems, hypothalamic dysfunction with obesity and sleep disorders. A few studies have reported autonomic nervous system dysfunction. Our aim was to investigate in details dysautonomia combining sleep studies and standard autonomic testing in children with Prader-Willi syndrome regularly followed.Met...

Background: Currently, 1-4% of newborns have cryptorchidism and 30% of them have bilateral cryptorchidism (BC). BC should rule out 46, XX Disorder of Sexual Development (DSD). In 46, XY patients gonosomal abnormalities, alterations in genes involved in 46, XY DSD or hypogonadotropic hypogonadism may be the cause. Currently, patients with BC undergo early orchiopexy in the first 18 months of life. However, in these patients, BC etiology, pubertal development an...

Background: Approximately 10% of children born small for gestational age (SGA) fail to catch-up nd remain short (SGA-SS). Although several mechanisms causing SGA-SS have been elucidated, the primary cause remains speculative in most cases.Aim: To decipher genetic causes of SGA-SS defined as birth length and/or birth weight <-2 SD for gestational age, and body height <-2.5 SD after the 3rd year of life within a larg...

Parental imprinting is an epigenetic process leading to monoallelic expression of certain genes depending on their parental origin. Imprinting disorders are a set of rare diseases that mainly affect growth and metabolism from birth to adulthood. These disorders are mainly due to methylation defects in imprinting control region that drive the abnormal expression of imprinted genes. Moreover, patients with imprinting disorders may present overlapping clinical features that can b...

Background: In 2020, the average glycaemic index of Type 1 diabetes (T1D) in Southeast Asia (SEA) countries were reported to be at around 83mmol/mol. In many low-middle-income countries (LMICs) in SEA, insufficient infrastructure, lack of universal health coverage and professional knowledge are factors that affect T1D outcomes that adversely affect mortality and morbidity. Action4diabetes (A4D) currently provides comprehensive partnership programmes with defin...

Introduction: Brain tumors are the most common solid neoplasm in children, and treatment often includes high-dose irradiation of the central nervous system (CNS). Although not universal, growth hormone deficiency (GHD) is a very common endocrine late effect after CNS irradiation in childhood. The consequences of GHD in adults are many e.g., reduced bone mineral density, fatigue, decreased lean body mass and adiposity, which implies that adults with severe GHD ...