ESPE Abstracts

Introduction: Thyroxine is important for nervous system development. Subclinical hypothyroidism (SCH), a mild thyroid dysfunction, is associated with impaired cognitive function in children and mood disorders in adults. Serotonin is also involved in brain development, mood and behavior modulation. The possible interaction between thyroid function tests, serum serotonin concentrations and emotional intelligence, was studied.Method...

Aggrecan is a structural glycoprotein of the extracellular matrix of cartilage present in the articular cartilage, growth plate and cartilage of the intervertebral disc. Biallelic pathogenic variants are the cause of aggrecan type spondyloepiphyseal dysplasia (OMIM#612813) while the presence of heterozygous pathogenic variants determine Kimberley type spondyloepiphyseal dysplasia (OMIM#608361) and short stature associated or not with acceleration of bone maturation and early o...

Introduction: Childhood obesity is associated with several complications, involving many systems. The prevalence of respiratory problems, such as obstructive sleep apnea syndrome (OSAS), is higher in obese children and adolescents. In fact, OSAS affects 13–59% of obese children and the severity is strongly associated with weight excess. Although overnight pulse oximetry (PO) can be used for diagnosing OSAS, a complete night polysomnography (PSG), which re...

Introduction: Hyperthyroidism (HT) is a condition characterized by inappropriately high thyroid hormone (TH) activity at receptor level, due to high synthesis and secretion of TH by thyroid gland. Antithyroid drugs as methimazole (MMI) are used as the first-line therapy in children. However, the optimal treatment duration and the predictive remission factors are still controversial.Objective: To investigate outcome of MM...

The extent and quality of parental care that children receive greatly influences their development, impacting their physical and psychological growth, their educational and social achievement, and their disease risk as both children and adults. It is thus remarkable that around 25% of children are physically abused worldwide. Parenting is a complex behavior, and we still know little about the causes and mechanisms by which people differ in their parental behaviors. To learn mo...

Epiphyseal growth plates, tiny cartilage discs located to the end of long bones, are necessary for longitudinal growth of the skeleton. When and why these structures appeared as individual organs was not very clear until recently. Bringing together an evolutionary approach with comparative analysis, mathematical modelling and both physical and biological experiments allowed to reveal that spatial allocation of the growth plate reduces mechanical stresses within the structure, ...

Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED, OMIM240300) is a rare monogenic disease due to biallelic mutations in the Autoimmune Regulator (AIRE) gene. This encodes for a thymus-enriched transcription factor responsible for central immune tolerance. Classic diagnostic criteria are the presence of two of main symptoms of chronic mucocutaneous candidiasis (CMC), hypoparathyroidism (HP) and Addison’s disease (AD). Non-endocrine autoimmun...

Background: Rare genetic diseases of obesity are often driven by gene variants in the melanocortin-4 receptor (MC4R) pathway. The MC4R agonist setmelanotide demonstrated significant reductions in body weight in patients ≥6 years old with various rare genetic diseases of obesity, including proopiomelanocortin (POMC), proprotein convertase subtilisin/kexin type 1 (PCSK1), or leptin receptor (LEPR) deficiency and Bardet-Biedl syndrome (BBS). While these condit...

Introduction: The prevalence of PCOS in adolescents and young women was established at 4.3%. Whether women with a history of ICPP are at increased risk for PCOS is still controversial. There is no clear evidence that ICPP girls treated with GnRH analogues (GnRHa) are more likely to develop PCOS than their age-matched peers.Objectives: To assess the prevalence of PCOS in adolescents with a history of ICPP and further comp...

Background: Congenital hypogonadotropic hypogonadism (CHH) is caused by impaired function of GnRH neurons, which clinically manifests by incomplete or absent puberty and infertility. The phenotype may be broader with other developmental anomalies such as anosmia, which is known as Kallmann syndrome. To date, there are more than 40 genes in which mutations underlie CHH. Cornelia de Lange Syndrome (CdLS) is characterized by facial dysmorphia, psychomotor delay, ...