hrp0098p2-13 | Adrenals and HPA Axis | ESPE2024

X-linked adrenoleukodystrophy in two male siblings; Endocrinological aspects of the disease, and therapeutic approaches.

Hatziagapiou Kyriaki , Dolianiti Maria , D. Sakka Sofia , Kokkinou Eleftheria , Pons Roser , Kanaka-Gantenbein Christina

Introduction: X-linked adrenoleukodystrophy (X-ALD) is a cause of primary adrenocortical insufficiency. It is associated with accumulation of very long chain fatty acids (VLCFA), due to peroxisome dysfunction. X-ALD is caused by pathogenic variants of the ABCD1, which encodes an ATP-binding cassette transport protein, and is inherited in X-linked recessive mode. There is no known genotype-phenotype correlation, and the degree of VLCFA elevation does n...

hrp0098p3-215 | Pituitary, Neuroendocrinology and Puberty | ESPE2024

Empty sella syndrome: a case report

Batsiou Anastasia , Lianou Alexandra , Kokkinou Aggeliki , Pouri Maria-Athina , Katsoudas Sokrates , Zosi Paraskevi

Introduction: Empty sella, is a radiologic finding in which the sella turcica appears empty due to cerebral spinal fluid (CSF) within the subarachnoid space herniating into the sella turcica. Subsequently, the pituitary gland contained in the sella turcica is compressed and flattened, and the pituitary stalk is stretched by the CSF, which fills the space. It’s usually associated with growth hormone (GH) restriction which is clinically imprinted with a de...

hrp0097p2-189 | Adrenals and HPA Axis | ESPE2023

A rare case of a newborn with congenital adrenal hyperplasia, osteogenesis imperfect and cow’s milk allergy

Mylonaki Eleftheria , Maniadaki Ilianna , Papadopoulou Eleftheria , Karavitakis Manolis , Mihaillidou Eleni , Paraskakis Manolis , Galanakis Manolis

Background: Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a rare pediatric disorder. The classic form occurs in 1:15,000 births worldwide. Osteogenesis imperfecta is a rare bone disease occurring in 1 in 15,000 to 20,000 births. Cow’s milk allergy (CMA) is of the commonest food allergies in early life. Our case presents the co existence of the abovementioned entities in a patient.Case report:</str...

hrp0082p2-d3-445 | Growth Hormone (2) | ESPE2014

GH Treatment to Final Height in Children with Idiopathic Short Stature: Evidence for an Early Therapy Initiation Effect

Hatziagapiou Kiriaki , Zosi Paraskevi , Karakaidos Dionisis , Kaiafa Eleftheria , Vlahou Thomais , Kanaris Likourgos , Kafalidis Georgios

Background: GH treatment aims to normalise growth, increasing growth velocity, thus helping patients achieve an adult height in the normal range for the general population and for their familial genetic potential.Objectives: To evaluate the efficacy of early replacement therapy with recombinant GH (rGH) in Caucasian pre-pubertal children treated for GH deficiency.Methods: Our study included 64 boys and 49 girls, diagnosed with part...

hrp0098p3-137 | GH and IGFs | ESPE2024

Atrioventricular Block in a Patient Small for Gestational Age during hGH Treatment

Katsoudas Sokratis , Malliou Alexia-Eleftheria , Chatzipsalti Maria , Polychroni Ioulia , Stamogiannou Lela

Objective: Children who are small for gestational age (SGA) and do not exhibit compensatory growth by the age of 4 years have been shown to benefit in their final height from growth hormone (GH) therapy. The GH-IGF1 axis stimulates physical growth, regulates metabolism and cardiovascular functions. Only one case of a child with GH deficiency presenting with atrioventricular (AV) block during GH therapy has been reported to date. Here, we describe the occurrenc...

hrp0097p1-75 | Fat, Metabolism and Obesity | ESPE2023

Newer anthropometric indexes predicting insulin resistance in Greek children and adolescents with overweight and obesity

Giza Styliani , Ntouma Stergianna , P Kotanidou Eleni , Rengina Tsinopoulou Vasiliki , Kampani Eleftheria , I Sakellari Eleni , Galli-Tsinopoulou Assimina

Introduction: Body mass index (BMI) and waist circumference (WC) are the main anthropometric measures of obesity. However, their inability to take into account body fat distribution raises queries for their predictive value of insulin resistance (IR) in youth.Aim: The aim of this study is to compare BMI and WC with latest anthropometric indices in the assessment of IR in a paediatric Greek population with overweight and ...