hrp0092lb-8 | Late Breaking Posters | ESPE2019

Detection of Cardiomyopathy in Egyptian Children and Adolescents with Longstanding Obesity Using Cardiac Marker NT-pro PNB and Speckled Tracking Echocardiography

Hafez Mona , Musa Noha , Fakhry Antoine , ELMougy Fatma , ELShennawy Hala

Introduction: Obesity is considered a major risk factor for developing cardiovascular morbidity and mortality. Obesity affects the structure and function of the heart mainly by causing increased blood volume, elevated cardiac output, left ventricular (LV) hypertrophy, and LV diastolic dysfunction. All of which can play a role in causing heart failure.Objective: This cross-sectional study aimed to evaluate the effect of l...

hrp0097p1-481 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2023

Treatment of Transient Hypothyroxinaemia Of Prematurity may improve premature newborns’ neurodevelopment. NEOTHYR, a multicentered retrospective cohort study about 373 subjects.

Bardet Angélique , Vincent Marine , Bretones Patricia

Background: Transient hypothyroxinaemia of prematurity (THOP), defined as low levels of FT4 without the expected TSH surge, may concern up to 50% of infants born <30 weeks’ gestational age. Most studies showed a link between THOP and impaired neurodevelopment, as shown in the review of Eerdekens. Data about the benefit of supplementation are scarce, with few randomised trials and inconclusive results. To date, there are no clear recommendations regard...

hrp0098p3-35 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Micronutrients, especially zinc, are essential for the proper growth and development of children

Kokhreidze Ana , Gordeladze Marine , Saginadze Lali

Micronutrients including vitamins and minerals are crucial for the body in small quantities. Their role in health is critical, with deficiencies leading to severe and sometimes irreversible life-threatening conditions. Micronutrients participate in cellular and biochemical processes, enabling the production of enzymes, hormones, cofactors and coenzymes. They ensure tissue maintenance, formation, and homeostasis, and support metabolic activities such as cell signaling, motility...

hrp0097rfc7.4 | Sex differentiation, gonads and gynaecology or sex endocrinology | ESPE2023

Serum steroid metabolome dynamics during infancy: a prospective, longitudinal cohort of healthy boys

Siegfried Busch Alexander , Lindhardt Ljubicic Mariee , N. Upners Emmie , B. Fischer Margit , P. Hagen Casper , Frederiksen Hanne , Juul Anders

Background: The circulating steroid metabolome in boys undergoes significant changes during infancy reflecting functional and structural rearrangements of the adrenal glands as well as the transient activity of the hypothalamic–pituitary–gonadal axis, also called minipuberty. Studies investigating the serum steroid metabolome dynamics during infancy in a longitudinal manner are however sparse.Objective: We ai...

hrp0086p2-p49 | Adrenal P2 | ESPE2016

Evaluation of the Combination of Anti-androgen and Anti-estrogen Treatment in Classical Congenital Adrenal Hyperplasia in Boys: Retrospective Study of 11 Cases

Lefevre Christine , Weill Jacques , Mazoyer Harmony , Cartigny Maryse

Background: Final height (FH) is reduced in congenital adrenal hyperplasia (CAH), due both to overtreatment by hydrocortisone therapy and to advanced epiphyseal closure linked to hyperandrogenism by Hydrocortisone therapeutic insufficiency.Objective and hypotheses: To evaluate the efficacy and safety of the addition of an androgen receptor competitor and an aromatase inhibitor to reduced hydrocortisone doses.Method...

hrp0086p2-p173 | Bone &amp; Mineral Metabolism P2 | ESPE2016

Bartter Syndrome with Bone-Destroying Hyperparathyroidism: About Two Cases, Genetically Proved, with Long-Lasting Follow-Up

Novo Robert , Cartigny Maryse , Lefevre Christine , Weill Jacques

Background: Bartter syndrome represents a rare severe condition, autosomal recessive, corresponding to several genes, characterized by an illness of the renal ascending branch of the handle of Henle. Only 15 cases of BSHPT have been communicated, either in publications or orally, but none presented such severe bone manifestation as ours.Objective and hypotheses: To present bone features of two patients suffering from severe BHSPT, so as the therapeutic a...

hrp0086p1-p193 | Diabetes P1 | ESPE2016

Recombinant Human Insulin-Like Growth Factor 1 (rh IGF1) Treatment of a Case of Leprechaunism: A Two and a Half Year Follow-Up

Valle Aline , Lefevre Christine , Weill Jacques , Cartigny Maryse

Background: Leprechaunism, due to a mutation of both alleles of insulin receptor gene, is a most severe and precociously life-threatening condition, difficult to treat.Objective and hypotheses: In leprechaunism rhIGF1 may replace insulin through I the insulin-like metabolic properties of its own receptor.Method: rh IGF1 was continuously subcutaneously administered through a.pump from the age of four months and adjusted according to...

hrp0086p1-p359 | Gonads &amp; DSD P1 | ESPE2016

Feasibility Study for Avoiding Early Surgery in Girls with 21-Hydroxylase Deficiency (21OHD)

Bougneres Pierre , Bouvattier Claire , Cartigny Maryse , Michala Lina

Background: Genital surgery in disorders of sex development (DSD) has been an area of debate over the past 20 years. One can question and even defy the routine practice to surgically align genitalia to the sex of rearing, as early as possible. However, despite multitude of data showing detrimental effects to genital sensation and sexuality, few patients born with ambiguous genitalia have remained unoperated into adolescence.Objective and hypotheses: To a...

hrp0084p3-703 | Diabetes | ESPE2015

A 1-year Follow-up Study to Evaluate Efficacy and Compliance of Continuous Glucose Monitoring in Children with Type 1 Diabetes Mellitus

Soni Astha , Clemente Marisa , Ng Sze May

Background: Self monitoring of blood glucose (SMBG) is an important part of diabetes management. Continuous glucose monitoring system (CGMS) provides the real time measurements of users’ glucose levels. The NICE guideline recommends use of CGMS if there is persistent hypoglycaemia unawareness or repeated hypoglycaemia or hyperglycaemia. In our paediatric diabetes clinic within a large DGH, we have a cohort of 12 children who were funded for the CGM use for a minimum of 1 ...

hrp0097p1-195 | Thyroid | ESPE2023

A rare case of thyroid dyshormonogenesis with high urine iodine excretion

Gunarathna Leslie , Clemente Marisa , Weerasinghe Kamal

Background: Variety of defective thyroid hormone biosynthesis accounts for 15% of congenital hypothyroidism. Children with IYD gene (formerly DEHALI) mutation, which encodes thyroidal enzyme iodotyrosine deiodinase, cannot recycle iodine in thyroid gland. This results in urinary loss of iodine and hypothyroidism. The condition may be missed by neonatal screening programs.Case description: A male baby was born of non-cons...