hrp0097p2-264 | Late Breaking | ESPE2023

Improvement in the nutritional status of Brazilian children under five years of age, evaluation from 2010 to 2022.

M Pinto Renata , M de Jesus Luciana , B D de Sousa Mariana , P de Oliveira Nayara , de S Gomes Laís

Introduction: The good nutritional status of children in the first years of life is essential for their healthy growth and development. Evaluating the repercussions of nutritional status is fundamental since nutrition can influence both short-term and adult life.Objective: To analyze the temporal trends of the BMI of Brazilian children aged 0 to 5 between 2010 and 2022.Patients and methods:...

hrp0098fc11.2 | Fat, Metabolism and Obesity 2 | ESPE2024

Frequency of rare non-syndromic diseases in a population with early-onset obesity

le Roux Carel , Rabbone Ivana , Haliloglu Belma , Pinhas-Hamiel Orit , Dominguez-Riscart Jesús , Sleiman Patrick , Savoie Charles , Goldstone Anthony , Argente Jesús

Introduction: Genetic variants in the melanocortin-4 receptor (MC4R) pathway can lead to hyperphagia and early-onset obesity. Increasing awareness of genetic testing may aid in the diagnosis and identification of patients who could benefit from novel precision therapies. To enhance access to genetic testing for patients with suspected rare MC4R pathway diseases, the Rare Obesity Advanced Diagnosis ™ (ROAD) genetic testing program was established...

hrp0092p1-391 | Growth and Syndromes (to include Turner Syndrome) (2) | ESPE2019

Foramen Magnum Stenosis (FMS): Neuroradiological Aspects before and after Cervical Decompression in Paediatric Patients with Achondroplasia (ACH).The 'Achondroplasia Multidisciplinary Gaslini's Group' (AMGG) Istituto Giannina Gaslini, Genova, Italy: Child Neuropsychiatry Unit, Neuroradiology Unit, Department of Paediatrics, Neurosurgery Unit, Orthopedic Unit, Rehabilitation Unit, Pulmonary Disease and Allergy Unit.

Allegri Anna Elsa Maria , Di Iorgi Natascia , Napoli Flavia , Patti Giuseppa , Siri Giulia , Severino Mariasavina , Piatelli Gianluca , Maghnie Mohamad

The identification of anamnestic, clinical and instrumental data indicative of pathological FMS plays a pivotal role in the prevention of ACH complications.Objective: identify key cranio-cervical junction(CCJ)neuroradiological features for the surgical choice and for the neuroradiological decompression outcome.Methods: from a total of 191 patients, we selected 24 subjects with ACH (age:<4years)...

hrp0095p1-109 | Growth and Syndromes | ESPE2022

Efficiency of The Genetic Study in the Assessment of Short Stature in Pediatrics

Murillo-Vallés Marta , Ros-Peña Andrea , Valls-Llussà Aina , Herrero-Espinet Javier

Introduction: Short stature is a common disorder in children that can become a challenge for clinical and molecular diagnosis. Recent studies in genetics and the implementation of Next-Generation Sequencing (NGS) in growth disorders have demonstrated the great genetic heterogeneity of short stature and the existence of highly varied phenotypes. The absence of homogeneous clinical criteria for conducting studies makes it difficult to evaluate the efficacy of th...

hrp0095p1-339 | Multisystem Endocrine Disorders | ESPE2022

Treatment-resistant hypokalemia and arterial hypertension: a prismatic case of low renin childhood hypertension

Rakicioglu H. , Kamrath C. , Genthner N. , Karatsiolis P. , Reincke M. , A. wudy S.

We report on a 17-year-old female patient with cramps in hands and legs since 6 months. She showed hypokalemia with high need of potassium substitution (128mmol K= 1.3 mmol/kg/d), arterial hypertension (mean 154.5/92 mmHg), polydipsia and polyuria without nocturia or salt craving. Her PMH revealed neuroblastoma stage III with high-dose chemotherapy, stem cell transplantation and obesity (36.8 kg/m2). Further investigation showed aldosterone 77.5 ng/dl (norm values: 2-10ng/dl),...

hrp0095p1-153 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Urinary gonadotrophins as markers of puberty in girls and boys during late childhood and adolescence: Evidence from the SCAMP Cohort

Spiers Alexander , Patjamontri Supitcha , B Smith Rachel , Shen Chen , B. Toledano Mireille , Faisal Ahmed S

Introduction: Urinary gonadotrophins measurement is a noninvasive method for evaluation of pubertal development and may have utility in population studies.Objectives: To investigate the utility of urinary gonadotrophins as a noninvasive biomarker of puberty in boys and girls.Methods: School-based adolescent cohort study with two time points for collecting school time urine samples ...

hrp0095p2-57 | Diabetes and Insulin | ESPE2022

Outcome of positive adrenal antibodies identified on screening in children with T1DM

Pinsker Jonathan , McNeilly Jane , Whyte Karen , Kuehne Vaiva , Faisal Ahmed S , Guftar Shaikh M

Background: Primary adrenal insufficiency (PAI) is characterised by the immune destruction of the adrenal cortex and leads to impaired production of the adrenal hormones. It is a potentially life-threatening condition that can be managed if identified early. The onset is insidious and often difficult to diagnose. Screening for adrenal autoantibodies is routinely performed in autoimmune conditions such as type 1 diabetes mellitus (T1DM). The guidance around the...

hrp0092fc15.6 | Late Breaking Abstracts | ESPE2019

Leptin Influences the Down-Regulation of UCP-1 Expression in Brown Adipose Tissue During Negative Energy Balance

Barrios Vicente , Canelles Sandra , Frago Laura M. , Chowen Julie A. , Argente Jesús

Background: The GH/IGF-I axis is involved in metabolic control and studies suggest that IGF-I deficiency and subsequent changes in IGF-I signaling in brown adipose tissue (BAT) modifies its thermogenic capacity. Food restriction reduces thermogenic capacity in BAT, while leptin stimulates thermogenesis through uncoupling protein 1 (UCP-1) induction. Leptin and IGF-I maintain important crosstalk in different tissues, but whether these two hormones interact to r...

hrp0092p1-18 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Nephrocalcinosis in Children with X-Linked Hypophosphatemia: Prevalence and Risks Factors

de Truchis Camille , Zhukouskaya Volha , Auger Martin , Rothenbuhler Anya , Linglart Agnès , Grapin Mathilde

X-linked hypophosphatemia (XLH) is diagnosed in children with clinical and or radiological signs of rickets, impaired growth velocity, low serum phosphate levels associated with renal phosphate wasting, in the absence of vitamin D or calcium deficiency. Conventional treatment is made of phosphate and active vitamin D. However, nephrocalcinosis has been identified as a complication of this therapy. Its prevalence is about 25-40% in adult XLH treated patients. It was never c...

hrp0092p1-52 | Fat, Metabolism and Obesity | ESPE2019

Effect of Feeding Mode on Longitudinal Body Composition in Early Life

de Fluiter Kirsten S , van Beijsterveldt Inge ALP , Acton Dennis , Hokken-Koelega Anita CS

Background: Excessive gain in fat mass (FM) during the first months of life, known as the critical window for adiposity programming, is associated with an increased risk for adiposity and cardiovascular diseases in later life. Early life nutrition (breastfeeding or formula feeding) might influence body composition (FM and fat free mass (FFM)) development in early life.Aims: To investigate differences in sex-specific long...