hrp0094p1-32 | Fat, Metabolism and Obesity A | ESPE2021

Sex hormones drive changes in lipoprotein profiles in adolescents; early implications for cardiovascular disease risk

Robinson George , Peng Junjie , Peckham Hannah , Radziszewska Anna , Butler Gary , Pineda-Torra Ines , Jury Elizabeth , Ciurtin Coziana ,

Prior to menopause, it is known that women have a lower risk of cardiovascular disease (CVD) and coronary heart disease compared to age-matched men; it is reported that women have around half the CVD risk and almost a 10-year delay in first myocardial infarction event compared to men. Sex differences in serum lipids could contribute to CVD risk through driving atherosclerosis, the buildup of lipids in the sub-endothelial intimal layer of medium-sized to large arteries. We hypo...

hrp0098p2-393 | Late Breaking | ESPE2024

Transcriptomic analysis of peripheral blood mononuclear cells reveals immune and metabolic pathways associated with both puberty-blockade and gender-affirming sex hormone therapy in young transgender individuals

Cross Heather , Peckham Hannah , Peng Junjie , Radziszewska Ania , Butler Gary , Jury Elizabeth , Rosser Elizabeth , A Robinson George , Ciurtin Coziana

Introduction: Sex differences associated with inflammation have been observed across numerous autoimmune and cardiometabolic conditions. We aim ed to explore the differential impact of sex hormones/sex chromosomes on molecular pathways potentially relevant for immune cell functions using a unique post-pubertal transgender cohort.Methods: RNA-sequencing was performed on peripheral blood mononuclear cells (PBMCs) from a he...

hrp0094fc5.2 | Sex Development and Gender Incongruence | ESPE2021

Unexpected impact of sex hormones on B-cells in trans- and cis-gendered healthy young people

Peckham Hannah , Rosser Elizabeth C , Radziszewska Anna , Robinson George , Martin-Gutierrez Lucia , De Gruijter Nina M , Jury Elizabeth C , Butler Gary E , Ciurtin Coziana ,

Background: Cis-gender females are known to mount stronger immune responses to invading pathogens or vaccines than cis-gender males. However, this is also associated with increased risk of autoimmunity. Little is known about the immunophenotypes of transgender individuals on gender-affirming hormonal treatment, despite growing evidence that hormones influence the immune system. Via the process of class-switch recombination (CSR), B-cell immunoglobulin isotype ...

hrp0089p2-p045 | Bone, Growth Plate & Mineral Metabolism P2 | ESPE2018

An Unusual Case of Hypophosphatemia in a Child Affected by Di George Syndrome

Kalapurackal Mila Ann , Barzaghi Federica , Pitea Marco , Cassano Gilda , Weber Giovanna

A female child born from non consanguineous parents of Pakistani origin presented with congenital heart anomaly at prenatal ultrasound and confirmed at birth, with type B aortic arch interruption, right-sided aortic arch, wide ventricular and atrium septum defects, which required repeated surgical corrections during the first 9 months of life. The ultrasound also reported absence of the thymus. Suspecting Di Deorge Syndrome, a fluorescent in situ hybridization (FISH) ...

hrp0092p3-52 | Diabetes and Insulin | ESPE2019

Off Label use of CGM in a Pediatric Patient with Type 1 Diabetes Mellitus Under the Age of 2

Burdea Liliana , Robinson Sylvia , Mantis Stelios

Introduction: Continuous Glucose Monitoring (CGM) is an asset for patients with type 1 DM. The Dexcom G6 is FDA approved for use in patients 24 months and older. This CGM does not require any calibrations or point of care interventions and lasts up to 10 days when inserted into the subcutaneous tissue. We present a case of a 17 month-old patient started on CGM (Dexcom G6), with subsequent improvement in glucose variability and continued excellent glycemic cont...

hrp0092p3-251 | Thyroid | ESPE2019

A Case of Graves Disease with Negative Thyrotropin Stimulating Antibodies in a Pediatric Patient with Type 1 Diabetes

Burdea Liliana , Robinson Sylvia , Minutti Carla

Background: Graves disease (GD) is an autoimmune condition caused by direct stimulation of the thyroid epithelial cells by thyrotropin (TSH) receptor antibodies (TRAb). The action of TRAb can be stimulating, blocking or neutral. Antibodies with agonist action are also called thyroid stimulating immunoglobulins (TSI). The diagnosis of GD is typically confirmed with TSI titer which is positive in >90% of patients. In patients that have negative TSI, high...

hrp0092p3-181 | Multisystem Endocrine Disorders | ESPE2019

Phenotype and Clinical Course in Three Individuals with Multiple Endocrine Neoplasia Type 2A due to a RET Gene Mutation

Panou Evangelia , Chrousos George

Background: Mutations in the RET gene have been described in subjects with multiple endocrine neoplasia Type 2 (MEN 2A). MEN 2A is a rare autosomal dominant disorder characterized by tumors of the C cells of the thyroid, adrenal medulla and parathyroid glands. Patients develop either C-cell hyperplasia or medullary thyroid cancer, pheochromocytoma, and in some cases hyperparathyroidism.Objective/Method: To descr...

hrp0094p2-34 | Adrenals and HPA Axis | ESPE2021

Maternal primary adrenal cortex insufficiency during pregnancy: Spotlight on the Fetus and the Neonate. A systematic review and meta-analysis.

Ilia Georgia , Paltoglou George , Chatzakis Christos , Christopoulos Panagiotis , Mastorakos George ,

Background/Aim: Maternal primary adrenal insufficiency, has been infrequently described during pregnancy, due to its rarity. Based on the existing literature, maternal hormone deficiency influences pregnancy and has an impact on mother and fetus/neonate, with only a few studies emphasizing on the respective outcomes. The aim of this systematic review and meta-analysis was to evaluate the impact of maternal corticosteroid deficiency during pregnancy on the fetu...

hrp0098p1-111 | Adrenals and HPA Axis 2 | ESPE2024

Investigating Changes in Plasma Aldosterone Concentrations Following ACTH Stimulation in Healthy Individuals: A Systematic Review and Meta-Analysis on the Influence of ACTH on Aldosterone Secretion

Stathori Galateia , Alexakis Dimitrios , Panagiotis Chrousos George , Paltoglou George

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...

hrp0089p3-p007 | Adrenals and HPA Axis P3 | ESPE2018

Refractory Cyclical Cushing’s Disease - a Case of Multiple Pituitary Micro-adenomas in a Three Year Old Girl after 8 Years Follow up

Robinson Elizabeth , Poonam Poonam Dharmaraj , Heyningen Carl van

Case presentation: A 3 years 10 months old British white girl presented with rapid weight gain of 11 kg over 4 months, hirsutism, central obesity, moon face, buffalo hump and hypertension.Investigations: Plasma cortisol, IGF-1 and ACTH levels were elevated. The 9am plasma cortisol was 1035 nmol/l (140–500) with simultaneous plasma ACTH 13 pmol/l (1–11). Plasma cortisol and ACTH levels responded to both dexamethasone suppression and CRH stimulat...