ESPE Abstracts

Introduction: Premature adrenarche (PA) is a benign clinical condition characterized by the early appearance of pubic and/or axillary hair. Non-classical form of congenital adrenal hyperplasia (CAH) should be ruled out in children with premature pubarche. This study aims to demonstrate the significance of clinical and laboratory data in differentiating between PA and CAH.Materials and Methods: This study includes prepube...

Background: Monitoring disease control in congenital adrenal hyperplasia (CAH) by random serum 17a-Hydroxyprogesterone (17OHP) measurements is invasive and fails to capture total daily adrenal steroid synthesis. Urinary steroid analysis may provide a more suitable, non-invasive method of assessing treatment response in children with CAH, by estimating the total daily excretion of 17OHP metabolites.Method: Urine was colle...

Background: Phaeochromocytoma is a rare neuroendocrine tumour originating from chromaffin cells in the adrenal medulla and less commonly from extra-adrenal paraganglia. Phaeochromocytoma occur in the context of a genetic syndrome in approximately 50% of adults and 80% of children. Genetic testing of index cases enables testing of first-degree relatives, identification of children who inherit the gene change and surveillance, early diagnosis and treatment of as...

Background: Adrenal insufficiency is a potential complication of prolonged exogenous steroid therapy in patients with nephrotic syndrome. Despite its clinical significance, there is limited information on its prevalence and associated risk factors in pediatric populations. This study aims to estimate the prevalence of adrenal insufficiency in children with nephrotic syndrome and identify the associated risk factors.Methods:</stro...

Introduction: The ACTH stimulation test is utilized to assess cortisol reserve and when non-classical congenital adrenal hyperplasia is suspected. Limited and conflicting data exist on the impact of the time of the day on cortisol response.Aim: To study the association between peak cortisol response to ACTH test and time of the day it was conducted and to study the clinical parameters affecting this response.<p class...

Adrenocorticotropic hormone (ACTH) in addition to renin-angiotensin- aldosterone axis is a potent aldosterone stimulator, suggesting a potential contribution in conditions associated with increased ACTH concentrations. This review aims to systematically review and synthesize the scientific evidence of alterations of plasma aldosterone concentrations in response to ACTH stimulation during the cosyntropin (Synacthen) test and define the range of aldosterone response. A systemati...

Background: 17 α-hydroxylase/17,20-lyase deficiency (17OHD) is a rare form of congenital adrenal hyperplasia, characterized by cortisol deficiency, sex steroid deficiency, and mineralocorticoid excess. We aimed to investigate the clinical presentations and follow-up course of Korean patients with 17OHD from longitudinal cohort.Methods: Clinical and biochemical data of 15 patients diagnosed with 17OHD during 1988-20...

Background: Multiple autosomal recessive genes have been linked to primary adrenal insufficiency (PAI). Recently, sphingosine-1-phosphate lyase 1 (SGPL1) gene mutations were recognized as a cause of sphingolipidosis with multisystemic manifestations, including PAI. Sphingosine phosphate lyase (SGPL1) insufficiency syndrome (SPLIS) is characterized by steroid-resistant nephrotic syndrome, primary adrenal insufficiency (PAI), neurological deterioration, immunode...