ESPE Abstracts

Background: Screening for autoimmune thyroid disease in children and adolescents with type 1 diabetes lacks consensus. Optimal screening methods should benefit the patients and reduce costs to healthcare.Objective and hypotheses: To, at diagnosis of type 1 diabetes, determine the predictive value of thyroid autoantibodies, thyroid function, islet autoantibodies, and HLA-DQ for autoimmune thyroid disease.Method: At diagnosis of type...

Background: The melanocortin-4 receptor (MC4R) pathway is a key regulator of energy balance and satiety. Variants in genes upstream of MC4R encoding leptin receptor (LEPR), proopiomelanocortin (POMC), proprotein convertase subtilisin/kexin type 1(PCSK1) and those involved in Bardet-Biedl syndrome (BBS) can impair MC4R pathway signaling. Clinically, these variants are characterized by hyperphagia (Pathologic insatiable hunger) and early-onset, severe obesity. E...

Background: Rare metabolic bone diseases (RMBD) are at the crossways of Endocrinology, Nephrology, Orthopaedic surgery and Rheumatology. Most of RMBD lead to short stature, bone pain, tooth anomalies, leg deformities, bone fragility and disability of variable importance. The organization of care varies immensely amongst European countries. Several European networks dedicated to RMBD already exist, supported by societies such as ESPE, ECTS or research grants, albeit their focus...

Background: PAPP-A2 is a metalloproteinase that specifically cleaves IGFBPs 3 and 5. Papp-a2 knock-out (KO) mice show a reduction in body size and skeletal abnormalities.Objective and hypotheses: Our objective is to report two affected families from Spain and USA. The Spanish family presents a homozygous frameshift mutation in exon 3 of the PAPP-A2 gene (c.1927_ 1928insAT, p.D643fs25X) resulting in a premature stop codon, with 2 of 4 si...

Background: Hypophosphatasia (HPP) is an inherited multisystem disorder predominantly affecting the mineralization of bones and teeth. HPP is caused by pathogenic variants in ALPL, which encodes tissue non-specific alkaline phosphatase. A major challenge in diagnosing HPP is interpreting variants in ALPL classified as variants of uncertain significance (VUS) according to ACMG/AMP criteria, creating uncertainty in patients and treating physicians resulting in d...

Introduction: Monogenic defects in the leptin-melanocortin pathway result in hyperphagia and severe, early-onset obesity. Knowledge of the natural history of anthropometric parameters in patients with monogenic obesity is essential for diagnosis. However, reliable data on early childhood weight and height development in affected patients are lacking. This study aimed to evaluate the history of height, weight, and BMI development in early childhood in a Europea...

Purpose: X-linked hypophosphatemia (XLH) is the most common hereditary cause of hypophosphatemic rickets. Elevated circulating levels of fibroblast growth factor 23 (FGF23) caused by mutations in the PHEX gene lead to renal phosphate wasting and rickets. Conventional treatment with phosphate salts and active vitamin D is associated with nephrocalcinosis in XLH patients. Mice on a high phosphate diet develop proximal tubular injury. Detailed analysis on kidney ...

The source of hyperandrogenism can be adrenal, gonadal, mixed or exogenous. The reason of excessive androgen secretion for age can be primarily gonadal/adrenal or it could be secondary to trophic stimulation (LH, hCG, ACTH, insulin, IGFs). Clinical signs of hyperandrogenism in children include virilization (clitoral hyperplasia, labial fusion, even unclear sex in a newborn), premature pubarche, premature penile growth, accelerated linear growth, increased musculature, acne and...

Background: Maternal obesity is known to have many detrimental effects on pregnancy. Bariatric surgery represents the most efficient therapy for severe obesity. Although it is known to positively impact many pregnancy outcomes, bariatric surgery can disturb fetal growth due to nutritional deficiencies.Objective: We aim to examine the repercussions of bariatric techniques on fetal growth, and to evaluate the risk of deliv...

Background: Hypoglycaemia is a common metabolic condition affecting up to 15% of all neonates and 50% of neonates with risk factors including diabetic mothers, large or small for gestational age, perinatal stress, or prematurity. It is well known that severe and prolonged hypoglycaemia, as commonly seen in congenital hyperinsulinism, can lead to brain injury. However, data on the effect of mild neonatal hypoglycaemia on neurodevelopment are limited. There is s...