ESPE Abstracts

Three patients from two unrelated families in Malta; one consanguineous (siblings: Patient 1, male and Patient 2, female) and one non-consanguineous (Patient 3, male), manifested hypogonadotropic hypogonadism with delayed puberty, intellectual disability, scoliosis, and ataxia with cerebellar hypoplasia on MRI. GnRH tests revealed low peak LH and FSH concentrations in the patients: Patient 1; LH 2.3 IU/L, FSH 4.4 IU/L (14.3y), Patient 2; LH 3.6 IU/L, FSH 6.4 IU/L (12.5y), Pati...

Background: Congenital adrenal hyperplasia (CAH) and long-term glucocorticoid treatment may be associated with an increased risk of developing cardiometabolic sequelae such as abnormal glucose homeostasis, hyperlipidaemia, hypertension, cardiovascular (CV) disease, obesity and osteoporosis.Objectives: To study the current practice amongst expert centres for assessing cardiometabolic outcomes in adult patients with 21-hyd...

Introduction: Pituitary imaging is important for the evaluation of hypothalamo-pituitary axis defects in patients diagnosed with childhood-onset growth hormone deficiency (CO-GHD). Published evidence shows that there is a close relationship between structural changes in the pituitary gland and growth hormone deficiency.Aim: To evaluate the relationship between clinical, laboratory and magnetic resonance imaging of the pi...

Introduction: Fanconi anemia (FA) is a rare genetic disease that presents with aplastic anemia. Around 60% have short stature (SST), with a mean height of -2.2 SD. However, studies assessing the etiology of SST not having reached relevant conclusions.Aim: Our aim was to evaluate the clinical features and endocrine status in relationship to SST in patients with FA.Methods and Patients: A cross-secti...

Introduction: Recently, the impact of glycemic variability in the development of chronic complications of diabetes has been put in question. The gold-standard method to quantify glycemic variability is not well established.Objective: To analyze the relationship between HbA1c and glycemic variability as determined from self-monitoring blood glucose (SMBG) in type 1 diabetes (T1D) pediatric population.Patients/methods: Cross-sectiona...

*Both authors contributed equally to this workBackground: Continuous Subcutaneous Insulin Infusions (CSII) or insulin pumps improve overall glycaemic control in paediatric populations. Children’s access to CSII may partly depend on socioeconomic status (SES), healthcare systems, and funding structures.Aim: The aim of our systematic review was to evaluate whether SES affects children’s a...

The growth hormone (GH)-insulin-like growth factor (IGF-1) system is essential for optimal human growth and energy homeostasis. Deficiency of pregnancy-associated plasma protein-A2 (PAPP-A2), a protease involved in the liberation of free IGF-1, leads to problems in growth and bone density in humans and mice. Patients with PAPP-A2 deficiency also present lower body mass and mild glucose intolerance. The present study aimed to determine the influence of 1 month of high carbohydr...

Background: The C19MC locus microRNA gene cluster is imprinted in the placenta. Imprinted genes control prenatal development and placental functions, and are epigenetically regulated. The factors that affect the DNA methylation status of C19MC regulatory region are unknown, as is the impact of this differential methylation on the offspring’s body size.Objectives: To study in humans 1) the association of placental C19MC DNA...

Background: Androgen excess in childhood is a common clinical presentation and might signify serious pathology. We have recently explored patterns and severity of androgen excess in a large female adult cohort to differentiate common polycystic ovarian syndrome (PCOS) from non-PCOS pathology, including congenital adrenal hyperplasia (CAH), ovarian hyperthecosis and adrenal and ovarian tumours (Elhassan et al., JCE&M 2018). Herein, we undertake a similar approach f...

Calcium signaling is fundamental to many cellular processes. An important pathway for increasing intracellular Ca2+ levels is store-operated Ca2+ entry (SOCE) regulated by stromal interaction molecule (STIM1-2), and Ca2+ channels formed by ORAI1-3 proteins. Mutations in the ORAI1 and STIM1 genes that abolish SOCE cause a combined immunodeficiency (CID) syndrome that is accompanied by autoimmunity and nonimmunologic symptoms. We present patients with Anhidrotic Ectodermal Dyspl...