hrp0097fc1.4 | Adrenals and HPA Axis | ESPE2023

Response to Crinecerfont Treatment in Adolescents with Classic Congenital Adrenal Hyperplasia Is Correlated with Elevated Baseline Hormone Concentrations but Not Glucocorticoid Dose

Ron S. Newfield , Sarafoglou Kyriakie , Y. Fechner Patricia , J. Nokoff Natalie , J. Auchus Richard , G. Vogiatzi Maria , S. Jeha George , Giri Nagdeep , Roberts Eiry , Sturgeon Julia , L. Chan Jean , H. Farber Robert

Introduction: Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21OHD) is a rare, autosomal disorder characterized by deficiency of cortisol and oftentimes aldosterone, elevated adrenocorticotropic hormone (ACTH), and excess androgen production. In a phase 2 study of adolescents with classic 21OHD, 14 days of treatment with the corticotropin-releasing factor type 1 receptor (CRF1) antagonist, crinecerfont, led to median percent red...

hrp0097p2-193 | Adrenals and HPA Axis | ESPE2023

Patient with Carney complex syndrome due to PRKAR1A mutation.

Ioannis-Anargyros Vasilakis , Barouti Konstantina , Sertedaki Amalia , Giannopoulou Effrosyni , Markopoulou Panagiota , Zosi Paraskevi , Lykopoulou Evangelia , Christopoulos Nikolaos , N. Zografos George , Valari Manthoula , Stefanaki Kalliopi , A. Stratakis Constantine , Charmandari Evangelia , Kanaka- Gantenbein Christina

Introduction: Carney Complex is a rare genetic disorder inherited in an autosomal dominant manner or may occur sporadically due to de novo mutations. It is characterized by the presence of cardiac myxomas, psammomatous melanotic schwannomas, skin pigmentation (blue nevi, lentigines) and multiple endocrine and non- endocrine tumors. It is caused by inactivating mutations or large deletions of the PRKAR1A gene. Management of the syndrome involves ongoing surveil...

hrp0098fc14.6 | Fetal and Neonatal Endocrinology | ESPE2024

Patient and Carer Perspectives: A National Survey of Continuous Glucose Monitoring in Children with Congenital Hyperinsulinism in the UK

Couch Helen , Pearson Andrew , Malhotra Neha , Ferguson Michael , Couch George , Gilbert Clare , Morgan Kate , Cassidy Kelly , Worthington Sarah , O'Shea Elaine , SalomonEstebanez Maria , Worth Chris , Didi Mohammed , Senniappan Senthil , Banerjee Indi , Dastamani Antonia

Background: Congenital Hyperinsulinism (CHI) is a rare condition that represents a substantial burden to affected children, their families and the health service (~£3.5 million annually).1–3 CHI is demanding, unpredictable and requires constant hypervigilance to minimise the risk of neurodisability and death. Rapid technological advancements in continuous glucose monitoring (CGM) have revolutionised blood glucose management for children ...

hrp0097p1-301 | GH and IGFs | ESPE2023

Outcome of growth hormone treatment in growth hormone deficient children over the course of 3 years in Notre Dames Des Secours-University Medical Center Byblos-Lebanon-single center experience

Nicolas Georges , El Kortbaoui Anthony

Key words: Descriptive study, short stature, Growth Hormone deficiency, Growth Hormone analogue, Lebanon, NDS-UMC, Byblos, single center experience.Background: There is a lack of national data concerning growth hormone deficiency treatment in Lebanon. The aim of this study is to describe the height gained under growth hormone therapy of 39 patients diagnosed with growth hormone deficiency (GHD).<st...

hrp0098p2-8 | Adrenals and HPA Axis | ESPE2024

Missed Diagnosis of Triple A Syndrome in a Syrian 3 year-old boy in Lebanon

Nicolas Georges , Abdul-Samad Ashraf

Background: Allgrove syndrome (AS) is a rare autosomal recessive disease characterized by alacrimia, achalasia, adrenal insufficiency and variable autonomic, central or peripheral nervous system dysfunction due to (AAAS) gene mutation on 12q13 coding ALADIN protein. Simultaneous onset of all clinical features is not a rule. Alacrimia is the earliest and constant symptom presenting since birth. However, achalasia is the most common complaint bringing children t...

hrp0098p3-55 | Diabetes and Insulin | ESPE2024

Diabetic Ketoacidosis post Asparaginase treatment for Acute Lymphoblastic Leukemia in 12 year-old female in Lebanon

Nicolas Georges , Abdul-Samad Ashraf

Background: Acute Lymphoblastic Leukemia (ALL) is the most common pediatric oncologic disease. Nowadays, ALL has become a treatable disease due to a well designed chemotherapy protocol. L-Asparaginase is an essential drug which has improved the long term outcome of ALL. However, hyperglycemia due to L-Asparaginase (4-20%) and PEG- Asparaginase (4-17%) is one side effect and can lead to diabetes mellitus or even to diabetic ketoacidosis DKA (0.8%) in combinatio...

hrp0098p3-140 | GH and IGFs | ESPE2024

Celiac Disease associated with Growth Hormone Deficiency treated by Growth Hormone therapy in 2 cases in Lebanon

Nicolas Georges , Abdul-Samad Ashraf

Background: Celiac disease (CD) is a chronic immune-mediated intestinal inflammatory disease due to gluten intolerance in genetically predisposed patients leading to mal-absorption followed by short stature, frequently associated to immune-mediated diseases (IDDM, autoimmune-thyroiditis, Addisson), syndromes (Down, Williams, Turner, selective IgA deficiency) and increased risk of non-Hodgkin and T-cell lymphoma. Its diagnosis is based on serological antibodies...

hrp0089p3-p215 | GH &amp; IGFs P3 | ESPE2018

RHGH Replacement Therapy and Side-Effects: A Retrospective Study of 10 Years

Parastatidou Stavroula , Lampropoulou Dionysia , Zosi Paraskevi , Georga Soultana , Eufraimidou Elissavet , Vlachou Thomais

Treatment with Recombinant Human GH (rhGH) has been of significant value in promoting quality of life in children with GH deficiency. However, it has been associated with several side-effects in the literature, including hypothyroidism, usually transient during the replacement therapy. The aim of this study was to evaluate the side effects of hGH replacement therapy, among children who were followed up at the Pediatric Endocrinology Outpatients Unit of our hospital during the ...

hrp0094p2-468 | Thyroid | ESPE2021

Thyroid function in preterm infants admitted to the neonatal intensive care unit: a single center study

Nicolas Georges , Achkar Joy , Akiki Simon

Background: A common cause of neurodevelopmental impairment in children is congenital hypothyroidism, but can be preventable with adequate screening and proper management. Preterm newborns are more likely to have thyroid dysfunction, with small for gestational age (SGA) being an additional risk factor. However, only few studies addressed the altered thyroid hormone concentrations in the first few weeks of life concluding that Thyroid-Stimulating Hormone (TSH) levels are higher...

hrp0098p2-372 | Late Breaking | ESPE2024

Caregiver-reported quality of life of patients with MCT8 deficiency: results from a cross-sectional survey

Ofori Akosua , Larkin Mark , Georges Nadia

Introduction: Monocarboxylate transporter 8 (MCT8) deficiency is an ultra-rare genetic disease, associated with severe cognitive and motor disability and symptoms of chronic peripheral thyrotoxicosis. The aimof this analysis is to describe the HRQoL impact experienced by patients with MCT8 deficiency as described by their caregivers.Methods: Informal caregivers of patients with MCT8 deficiency completed an online cross-s...