ESPE Abstracts

Background: Insulin Tolerance tests (ITT) have long been considered the gold standard for dynamic function testing of the hypothalamo-pituitary-adrenal (HPA) axis. Sub-optimal cortisol responses during an ITT in children may be found in children during ITT without a previous clinical suspicion of Adrenal insufficiency (AI). It is not clear what the clinical significance of this is and whether all of these children require formal synacthen testing.<p class=...

Introduction: Many potential factors can affect or be influenced by placental size. These include gestational age, maternal age, race, socioeconomic status, and gender of the baby.Aim: We investigated the possible association/s between placental weight on the one hand and birth weight, gestational age, maternal age, and gender of the baby in a large cohort of newborns (n = 80722)Me...

Introduction: An extremely low birth weight (ELBW) infant is defined as one with a birth weight of less than 1000 g. This study evaluated the postnatal growth of infants born with ELBW for 3 years.Method: Anthropometric measures (z scores) from birth, 2,4.6,12,18,24, and 36 months were measured in 87 randomly selected infants who were born with a birth weight below 1 kg (between 9-2016 and 9-2018). Their anthropometric d...

The anomalies of sexual differentiation correspond to congenital chromosomal, gonadal or phenotypic atypia of sexual development that group together pathologies with an undifferentiated or poorly differentiated aspect of the external genitalia and/or internal, or a state of mismatch between external genitalia and internal organs genitalia. The objective of this work is to describe the epidemiological, clinical and metabolic biomarker profiles in patients with abnormalities of ...

Background: β-thalassemia major (β-TM) is the most common genetically determined chronic hemolytic anemia. Studies reported that patients with β-thalassemia are zinc deficient due to increased utilization of zinc by oxidative stress, increased urinary zinc excretion and sequestration in the liver.The development of abnormal glucose tolerance in β-TM is associated with alteration in oxidant-antioxidant status. Zinc plays an essen...

Background: The prevalence of atypical genitalia and the time taken to assign sex in such cases remains unclear. Provision of optimum healthcare during this period requires a clear understanding of the occurrence of atypical genitalia.Methods: Prospective electronic survey of clinical members of managed clinical networks in Scotland between 2013 and 2018 seeking notification of term neonates requiring specialist input fo...

Introduction: Differenciated thyroid cancer (DTC) is a rare disease in children and adolescents, it concerns approximatively 1.4% of all pediatric malignancies. Papillary thyroid carcinoma (PTC) is the most common subtype of DTC in pediatric as well as in adult with necessity of radio iodine therapy after surgery.Aim: The aim of our study is to evaluate follow up after iodine therapy in childhood patients treated for...

Background: The prevalence of vertebral fractures (VF) in Duchenne Muscular Dystrophy (DMD) is currently unknown as systematic spine imaging is rarely performed.Objective: To determine the prevalence of VF in DMD and factors associated with VF.Method: A prospective study utilising systematic screening with DXA vertebral fracture assessment (VFA) was performed in all 47 eligible boys. 6/47 were excluded due to spinal instrumentation...

Background: Complication rates following hypospadias surgery are variable and given that hypospadias may be associated with a genetic or an endocrine condition, hypospadias outcome may depend on several clinical factors that require exploration.Aim: To perform a systematic review of cases of hypospadias operated at one tertiary centre to identify clinical determinants of optimal outcome.Methods: Retrospective review of clinical rec...

Introduction: Among Disorders of Sex Development (DSDs), XY DSD, represents the most challenging group in terms of identifying a diagnosis.Objectives: The aim of the study was to determine the prevalence of biochemical and molecular genetic tests in a cohort of boys with XY DSD and to collate the phenotypes of patients with results of laboratory investigations and presence of associated abnormalities.Methods: New and existing cases...