ESPE Abstracts

Introduction: CORNELIA DE LANGE Syndrome (CdLS) is a rare syndrome, first described in 1933 by the Dutch pediatrician CORNELIA DE LANGE. This syndrome represents a multi-systemic disorder with physical, cognitive and behavioral characteristics. It is evident in the typical or classical form (craniofacial appearance, short stature and limbs deformities). However, not all individuals with CdLS present with the classic phenotype, as the clinical presentation can ...

Introduction: Pituitary tumors are rare in children and adolescents. The etiology is dominated by craniopharyngiomas. The main clinical presentation is the tumoral syndrome. These lesions often affect growth and pubertal development. The objective of our work is to study the clinical and etiological characteristics of pituitary tumors in the pediatric population.Materials and Methods: This is a retrospective descriptive study involving 0...

Introduction: Precocious puberty is defined by the apparition of secondary sexual features before the age of 8 years in girls and 9.5 years in boys. Central precocious puberty (CPP) results from a premature activation of the hypothalamic-pituitary-gonadal axis. The aim of this study is to review the clinical, etiologic and therapeutic features of this entity.Patients and methods: It is a descriptive retrospective study including 7 patien...

Introduction: Cushing’s syndrome is rare in the paediatric population, affecting 0.89 per million children between the ages of 0 and 20 years. The causes of Cushing’s syndrome of endogenous origin are dominated by pituitary causes in 70-95%, with a peripubertal revelation. We report the case of a child followed for Cushing’s disease in the department of Endocrinology-Diabetology-Nutrition of Mohammed-VI University Hospital Center of Oujda, in th...

Introduction: Micropenis is defined as an anatomically correct penis that is abnormally short due to a defect in testosterone secretion or action. The length of the stretched penis compared to reference tables such as the Schönefeld curve is the best diagnostic criterion. Size less than -2.5 Standard Deviations (SD) defines micropenis. When the etiological assessment of micropenis does not reveal any abnormality, the diagnosis of idiopathic micropenis is retained. Materi...

Introduction: In medical practice, sex assignment at birth depends primarily on the appearance of the external genitalia, which development begins as early as the fetal period and is largely dependent on dihydrotestosterone (DHT). Any discordance between the chromosomal, gonadal or anatomical sexes can lead to a disorder of sex development (DSD). 5 alpha-reductase 2 (5aRD2) deficiency is a very uncommon autosomal recessive genetic disorder that falls into the DSD 46 XY group, ...

Introduction: Precocious puberty is a common problem affecting up to 29 per 100,000 girls per year. It is defined as the development of secondary sexual features, at a younger age than the accepted lower limits for age of onset of puberty, namely 8 years in girls and 9.5years in boys. We report the case of a precocious puberty in an 8-year-old and 11months girl with diabetes mellitus type 1 and autoimmune hypothyroidism followed-up in the department of Endocri...

Background: Patients with HP have stunting of various degree of expression but the most pronounced stunting is found in patients with Russell-Silver syndrome, Sekkel syndrome and Cornelius de Lange syndrome which is associated with disorders in the hypothalamus – hypophyseal system (somatostatin - GH).Objective and hypotheses: To study secretion of somatostatin and insulin-like growth factor (IGF-1, IGFBP-3) in various forms of hereditary pathologie...

Background: Silver Russell Syndrome(SRS) is a rare heterogeneous genetic disorder, which is mostly known because of its prenatal and postnatal growth retardation. Patients with Russell silver syndrome have syndromic facial appearance as well as some other common clinical features. The last guideline for diagnosis of SRS is Netchine– Harbison clinical scoring system that is clinical scoring system and followed by molecular evaluation.<p class="abstext"...

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...