ESPE Abstracts

Introduction: It is known that microduplications including the SOX3 gene and intragenic duplications leading to loss of function in the gene cause panhypopituitarism, which can be accompanied by intellectual failure. Here, we report the first known case of panhypopituitarism, a deletion of the X chromosome, including the SOX3 gene in the q27.1q27.3 region.Case: A 15-years and two months old male patient was referred to o...

Background/Aim: Diabetes with extra-pancreatic features in children can have a monogenic aetiology. Single gene testing is undertaken when children present with the characteristic clinical features suggestive of the underlying aetiology. We aim to assess the utility of comprehensive genetic testing for all monogenic diabetes genes in children with diabetes and any non-autoimmune extra-pancreatic features from a population with a high rate of consanguinity.<p class="abstext...

Background: The sonic hedgehog pathway (SHH) regulates CNS development and mutations or abnormal expression of the SHH pathway genes have been identified in epithelial tumors. SHH pathway interacts with Wnt/β-catenin signalling. To date, CTNNB1/β-catenin mutations are the sole molecular abnormality found in adamantinomatous craniopharyngiomas (ACPs).Objective and Hypotheses: To analyze the expression pattern of SHH pathway genes in ACPs and its...

Introduction: The European Registries for Rare Endocrine Conditions (EuRRECa) project aims to support the needs of the endocrine and bone community by facilitating the collaboration between patients, health care professionals and researchers across Europe and beyond. It is a project funded by the European Union’s health programme and is the affiliated registry of the European Reference Network for Rare Endocrine Conditions (Endo-ERN). It consists of two r...

An oral GH secretagogue (GHS), LUM-201, stimulates GHSR-1a receptor to enhance endogenous GH pulsatile release. In moderate iPGHD, pulses of GH are found but at reduced levels, resulting in decreased IGF-1 and poor growth. The impact of LUM-201 on GH profiles during treatment of such children has not been reported.Objective: To characterize GH profiles, defined by deconvolution analysis, based on GH concentration in a time series and its...

Background: Aromatase inhibitors (AIs) have been suggested to slow down estrogen-dependent skeletal maturation in pubertal boys with short stature. In the literature, few studies evaluate the efficacy and safety of AIs in boys with growth hormone deficiency (GHD). Objective: To evaluate the auxologic effects and short-term laboratory profiles of combined AI and rhGH therapy in adolescent males with GHD.Subjects and Methods:</stro...

Introduction: Thyroid disorders are the second commonest endocrine dysfunctions encounter in pregnancy after Diabetes. These include overt hypothyroidism, overt hyperthyroidism, subclinical hypothyroidism and subclinical hyperthyroidism. Pregnancy has profound impact on the thyroid gland and thyroid functions (TF). Failure to adapt to these physiological changes result in abnormal TF and cause adverse foetal and neonatal outcomes like miscarriages, placental a...

Objectives: Somatrogon is a long-acting recombinant human growth hormone (GH) approved in the EU and other countries for once-weekly treatment of pediatric patients with GH deficiency (GHD). In this analysis, height outcomes of somatrogon-treated patients in a phase 3 trial (CP-4-006) were compared with historical data from matched somatropin-treated patients enrolled in KIGS.Methods: In trial CP-4-006, patients were ran...

Introduction: The outcome of hypospadias is considered to be primarily dependent on the underlying aetiology, its surgical management and the duration of follow-up. However, currently, there is little consensus on what set of parameters are essential and clinically feasible for assessment of outcome.Aim: To facilitate the development of a core outcome set for hypospadias by assessment of the range of outcomes reported in boys undergoing surgery.<p cl...

Background: The etiological investigation of central precocious puberty (CPP) has improved with more precise clinical approach, neuroimaging, and genetic studies. CPP can be caused by congenital or acquired conditions, with or without central nervous system (CNS) lesions. More recently, genetic and epigenetic disorders have been identified in children with CPP, previously classified as idiopathic.Objective: To update the...