hrp0084p3-604 | Adrenals | ESPE2015

Severe High Blood Pressure with Renal Failure in a Neglected Case of 11β-Hydroxylase Deficient Congenital Adrenal Hyperplasia

Belceanu Alina Daniela , Munteanu Mihaela , Florea Mariana , Ungureanu Maria-Christina , Zmau George , Puiu Mirela , Armasu Ioana , Mogos Voichita , Vulpoi Carmen

Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders characterised by impaired cortisol synthesis. An enzymatic defect in 11-beta-hydroxylase is the second most common variant of CAH and accounts for approximately 5–8% of cases. Patients present with features of androgen excess and approximately two thirds of patients also have high blood pressure (HBP), which is initially responsive to glucocorticoid replacement, but may become a c...

hrp0084p3-959 | GH & IGF | ESPE2015

Late Diagnosis of a Type II/III Mucolipidoses Treated with GH Replacement Therapy

Crumpei Iulia , Belceanu Alina , Armasu Ioana , Braha Elena , Rusu Cristina , Manolachie Adina , George Zmau , Preda Cristina , Vulpoi Carmen

Background: Mucolipidoses II/III (ML) are rare autosomal recessive lysosomal storage disorders (incidence: 1/325 000 live births). They have overlapping clinical phenotypes with mucopolysaccharidosis disorders and include growth retardation, facial dysmorphism, skeletal abnormalities, respiratory and heart diseases, hepatosplenomegaly and abdominal hernias. There is no specific treatment and the management has been limited to supportive care.Case present...

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...

hrp0094p1-103 | Adrenal B | ESPE2021

Leukocyte telomere length in children with Congenital Adrenal Hyperplasia

Raftopoulou Christina , Abawi Ozair , Sommer Grit , Binou Maria , Paltoglou George , Fluck Christa , Akker Erica van den , Charmandari Evangelia ,

Introduction: Exposure to chronic stress and hypercortisolism is associated with decreased leukocyte telomere length (LTL), a marker for accelerated biological aging and cardiovascular disease. Children with congenital adrenal hyperplasia (CAH) are treated with glucocorticoids. The aim of our study was to investigate LTL in children with CAH and its relation with CAH subtype, daily glucocorticoid dose and treatment quality.Method...

hrp0098fc1.2 | Diabetes and Insulin | ESPE2024

Effect of hydroxychloroquine therapy in newly diagnosed type 1 diabetes: a randomised, double-blind, placebo-control pilot trial

George Arun , Kumar Rakesh , Patil Amol , Sachdeva Naresh , Yadav Jaivinder , Jacob Neenu , Banerjee Sayan , Nanda Pamali , Bala Anju

Background: Hydroxychloroquine sulfate (HCQS) is an immunomodulatory drug used to treat various rheumatological conditions. However, its effect on preserving β-cell function in type 1 diabetes remains unclear.Objective: To determine the differences in C-peptide (fasting and post mixed meal) and HbA1c in children with new-onset T1D on hydroxychloroquine therapy versus placebo.Methods:</...

hrp0098p1-127 | Diabetes and Insulin 3 | ESPE2024

Molecular Characterization, Clinical phenotype and Long-Term Outcomes in Neonatal Diabetes Mellitus: nearly two decades of experience in a tertiary care pediatric diabetes clinic in north India

Kumar Rakesh , Dayal Devi , George Arun , Banerjee Sayan , Yadav Jaivinder , Bala Anju , Nanda Pamali , Evans Molly , Mohan Vishwanathan , Venkateshan Radha

Background: Neonatal diabetes mellitus (NDM) is a rare monogenic disorder that typically occurs within the first 6 months of life. However, there is limited information from India about the clinical characteristics, treatment, and long-term outcomes for children with NDM. This study aims to provide a comprehensive overview of one of India's largest cohorts of children with NDM. These children were treated at a single referral center in North India over a ...

hrp0098p1-181 | Pituitary, Neuroendocrinology and Puberty 2 | ESPE2024

Characterization of puberty-regulating microRNAs within the hypothalamus of female mice

Fanis Pavlos , Morrou Maria , Tomazou Marios , Abdulgadr M. Alghol Hend , M Spyrou George , Neocleous Vassos , A Phylactou Leonidas

Background: Puberty is a crucial developmental stage marked by the transition from childhood to adulthood, organized by complex hormonal signaling within the neuroendocrine system. The hypothalamus, a central region in this system, regulates pubertal functions through the hypothalamic-pituitary-gonadal (HPG) axis. Gonadotropin-releasing hormone (GnRH) neurons, essential in puberty control, release GnRH in a pulsatile manner, initiating the production of sex ho...

hrp0098p2-97 | Fat, Metabolism and Obesity | ESPE2024

Improvement of Cardiometabolic Risk Factors and Psychosocial Health in Children and Adolescents with Excess Adiposity following Implementation of a Comprehensive, Multidisciplinary, Personalized, Lifestyle Intervention Program

Vourdoumpa Aikaterini , Paltoglou George , Koutaki Diamanto , Kassari Penio , Manou Maria , Papadopoulou Marina , Bacopoulou Flora , Kolaitis Gerasimos , Charmandari Evangelia

Introduction: Childhood obesity has reached epidemic proportions in contemporary societies with multiple comorbidities. Social stigma, low self-esteem, depression, anxiety, and behavioral problems are noted in youth with excess adiposity, and may persist for a long time. The aim of our study was to assess the alterations in cardiometabolic risk factors and mental health in children and adolescents with excess adiposity following the implementation of a multidi...

hrp0098p2-190 | Growth and Syndromes | ESPE2024

Rare Cases of Primary Hypoparathyroidism in Childhood in the Covid-19 Era

Vourdoumpa Aikaterini , Plessa Theodora , Paltoglou George , Amountza Georgia , Oikonomou Stavroula , N Maritsi Despoina , Soldatou Alexandra , N Tsolia Maria , Karavanaki Kyriaki

Introduction: Primary hypoparathyroidism is a rare cause of hypocalcemia, complicating various disorders. Clinical presentation ranges from asymptomatic patients to paresthesia, cramps, seizures, stridor, laryngospasm, cardiac arrhythmias, basal ganglia calcification, subcapsular cataracts, and dental enamel hypoplasia. This study aims to present the cases of two patients with rare causes of primary hypoparathyroidism and highlight the need for standardization...

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...