ESPE Abstracts

Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive inherited disorder resulting from a genetic defect in one of the enzymes involved in the synthesis of cortisol from cholesterol in the adrenal cortex. Although steroid hormone levels are used in the diagnosis and monitoring of CAH, not all steroid hormone levels can be measured by ELISA. Steroid hormone levels are measured using immunoassay and liquid chromatography-mass spectrometry (L...

Context: Corticotropin-releasing hormone (CRH)-stimulated inferior petrosal sinus sampling (IPSS) has an important role in the differential diagnosis of hypercortisolism of pituitary or ectopic origin as the most accurate procedure in terms of sensitivity and specificity compared with clinical, biochemical and imaging analyses. However, due to the cost and unavailability issues of CRH, desmopressin may be an alternative to CRH during IPSS.<p class="abstext...

Introduction: Craniopharyngiomas can lead to pituitary insufficiency and long-term endocrine complications due to the location, invasive character and risk of recurrence, besides they known as histologically benign.Aim: In this study, we aimed to evaluate the demographic, clinical features, endocrinological problems and follow-up findings in patient with craniopharyngioma in childhood.Metho...

Background: Actual surgical procedures for the treatment of patients with VSD (Variation of Sex Development), in particular severe hypospadias, are associated with frequent post-operative complications.Objective and hypotheses: Tissue engineered collagen tubes are a promising alternative.Method: We elaborated a new, two layered, collagen based tube that can be sutured. Mechanical testing proved a better resistance of those tubes co...

Background: Inactivating mutations in the calcium sensing receptor (CASR) may result in disorders of calcium homeostasis manifesting as familial benign hypocalciuric hypercalcemia (FBHH) and neonatal severe hyperparathyroidsm (NSHPT).Objective and hypotheses: We report two cases with NSHPT together with their treatment and long-term follow-up.Method: Two cases were referred with severe hypercalcemia in the neonatal period....

Background: Proopiomelanocortin (POMC) deficiency is characterized by early-onset obesity, adrenal failure, red hair and pale skin. The first genetic mutation in the POMC gene was demonstrated in 1998. This disorder is rare, but has increased our insight into the important role of the leptin-melanocortin pathway in energy balance. POMC deficiency causes obesity due to the inadequate production of alpha and beta MSH from POMC, which normally activate the melanocortin 3 receptor...

Background: Variants in SH2B1 or a 220–kilobase pair distal deletion of chromosome 16p11.2, including SH2B1, are associated with severe, early-onset obesity and hyperphagia. The melanocortin-4 receptor (MC4R) agonist setmelanotide is being investigated in individuals with rare variants in genes in the MC4R pathway.Methods: This ongoing, Phase 2 study (NCT03013543) enrolled individuals aged ≥6...

Introduction: Primary osteoporosis (POP) is a rare and important problem in childhood that can cause serious skeletal deformities and morbidity. In this study, we aimed to reveal the spectrum of POP in childhood, and also to assess the effectiveness and safety of bisphosphonates in increasing BMD, reducing fractures, and improving quality of life.Method: Patients with POP and who received at least one course of pamidrona...

Introduction: Parathyroid adenoma (PRAD) is less common than in adulthood, but its morbidity is higher in children. The typical presentation is incidentally discovered as asymptomatic hypercalcemia. We aimed to evaluate the clinical characteristics of PRAD and our clinical experience since the early disease is often asymptomatic.Method: From 2010-2020, all children diagnosed with PRAD at our institution ...

Introduction: With the development and use of automated insulin delivery (AID) technologies like Advanced Hybrid Closed Loop (AHCL or Minimed 780G) system, it becomes possible to achieve tighter glycemic control. A new parameter called “Time in Tight Range” (TITR, 70-140 mg/dL) has been proposed to evaluate glycemic control in the latest consensus on the use of continuous glucose monitoring (CGM) data in diabetes research. This study aims to assess...