ESPE Abstracts

Screening for diabetic retinopathy has been expanded from ophthalmology-based assessments. Retinal photography can be used in primary care by trained photographers, and then graded by trained staff using Telemedicine. Ultrawide retinal cameras can now capture over 80% of the retina from a single image. It may be more predictive of progression to proliferative retinopathy than the traditional views, but cost of equipment for benefit is unclear. There have been advances in D...

Management of DSD is a sensitive area within the field of paediatric endocrinology. On the one hand, major progress has been made in amongst others understanding the molecular genetic background and the germ cell cancer risk of certain DSD conditions. On the other hand, practices that were common in the past, such as early genital surgery have become strongly criticised and controversial nowadays, leaving clinicians as well as patients and their families with a lot of question...

Nowadays, after decades of continuously rising rates of paediatric obesity across the world, insulin resistance (IR) in children and adolescents has become a prominent health issue.Obesity is recognised to be the most prevalent pathological cause of IR. However, corticosteroids or growth hormone therapy, genetic diseases and physiological conditions, such as puberty and pregnancy, may affect insulin sensitivity (IS) lifelong.Early ...

Background: Multiple causes of hyperprolactinemia can be identified in some patients with rheumatic diseases. Prolactin maintains cartilage maintenance, osteogenesis, growth, proliferation and apoptosis as well as the release of proinflammatory mediators by immune cells – events that can both induce and prevent rheumatic diseases. The aim of this study is to analyze the serum prolactin level in patients with juvenile idiopathic arthritis (JIA), and their ...

Introduction: The Sonic hedgehog (SHH) signaling pathway plays a crucial role in development of the forebrain and pituitary. Mutations in SHH signaling related genes are well known to be the cause of Holoprosencephaly (HPE), which results from developmental field defect or impaired midline cleavage of the embryonic forebrain, and is frequently associated with hypopituitarism. This study aimed to define the prevalence of congenital hypopituitarism (CH) in terms...

Background/Objectives: During treatment of children and adolescents with cancer, an imbalance of carbohydrate and mineral metabolism may occur, leading to clinical manifestations of the components of the metabolic syndrome. The aim of the work was to study the frequency and severity of various clinical signs associated with metabolic syndrome in a cohort of patients from the Russian Field Clinical Rehabilitation Center.Design/Met...

Sleep deficit is the well known risk factor for obesity in children and adult. Adenotonsillar hypertrophy is the main cause of obstructive sleep apnea(OSA) in childhood. Adult type (type II ) OSA is increasing in obese children. Eleven year old boy visited our clinic with chief complain of polyuria, polydipsia onset two weeks ago. His grandmother and father are type 2 diabetes mellitus. Adenotonsillectomy was recommended for tonsillar hyperthrophy (Grade 3) and had snoring for...

Introduction: Autosomal dominant congenital hyperinsulinism (CH) is characterized by congenital hypoglycemia due to mutations in any of several genes including the glucokinase (GCK) gene. It is a rare disease with variable clinical symptoms mostly treated medically but in some cases requiring surgical intervention.Aim: We describe herein the clinical presentation and the genetic diagnosis of CH in two generations of an I...

Introduction: Nelson’s syndrome is a potentially severe complication of bilateral adrenalectomy, a radical procedure performed in the treatment of hypercortisolism in Cushing’s disease (CD). We report a case of CD in pediatric age submitted to bilateral adrenalectomy with subsequent Nelson’s syndrome.Case report: Male, 5-year-old, referred to a Pediatric outpatient clinic because of growth failure, rapid weight gain and high blood pressure...

Introduction: The term lipodystrophy describes a rare disease subdivided into a heterogenous group of even rarer subforms. The rarity of this disease makes research in this area extremely difficult and international co-operation is mandatory to accumulate data sets of sufficient size. The European Consortium of Lipodystrophy (ECLip) consisting of an association of European experts in the field of lipodystrophy has therefore decided to set up a registry for patients with lipody...