ESPE Abstracts

Introduction: Type 1 neurofibromatosis (NF1), also called Recklinghausen’s disease, is one of the most common genetic diseases. It is autosomal dominant inherited. Its diagnosis is based on the presence of a familial history of NF1 in a first-degree relative and on the presence of a set of clinical arguments. Endocrine manifestations may exist. The most common are pheochromocytoma and precocious puberty, but other endocrine disorders can be observed more ...

Introduction: Pituitary adenomas in children are rare and account for 3% of intracranial tumors in the pediatric population (1), dominated by prolactinomas and corticotropic adenomas, but plurisecreting adenomas are exceptional. We report a case of a 14-year-old girl with a pituitary macroadenoma with a prolactin-predominant plurisecretory immunohistochemical profile revealed by an intracranial hypertension syndrome with a good therapeutic response to cabergol...

Objectives: This retrospective and descriptive study aim to study the frequency of children who have a pubertal delay and who are followed at the Department of Pediatrics II at the Children’s Hospital of Rabat. Materials and Methods: Among 1850 records collected, 24 patient records that meet the criteria for inclusion. A delay in the appearance of sexual characters: the lack of breast development after the age of 13.5 years in the girl and the lack of inc...

Introduction: Marfan syndrome is an autosomal dominant disorder due to a mutation of the FBN1 gene of chromosome 15 that produces fibrillin, a connective tissue protein. Tall stature can be of a major concern especially in a girl patient. Here we discuss a case of a 13-year-old girl with MFS with tall stature and multiple associated comorbidities that pose challenges in her management for the whole family.Case Report: A ...

Introduction: Blood transfusion and iron chelation are conventional treatments for β-thalassemia (BTM). Malnutrition affects the growth, efficacy of treatments, and quality of life in children suffering from BTM.Objective: To evaluate the prevalence of malnutrition (BMI < 3rd centile for age and sex) or BMISDS < -2 in 10 Mediterranean and Middle east countries and the USA in the past 20 years.  <p c...

Introduction: 11-Beta-hydroxylase deficiency (CYP11B1) is the second most common cause of Congenital Adrenal Hyperplasia (CAH). Although the relative frequency of 11-OHD is reported as 3-5% of the cases of CAH, these numbers may have been somewhat underestimated.(1,2) The resultant clinical picture in 11-OHD is similar to that of 21-OHD, except for the variable presence of hypertension and hypokalemia due to DOC excess.(2,3)Aim o...

Background: The Scottish Paediatric Endocrine Managed Clinical Network is committed to providing equity of care and education across Scotland. A key role is the education of health care professionals and how this is delivered. An extensive survey using a Learning Needs Analysis Tool was completed to ascertain learning needs and their delivery across Scotland. This highlighted the desire to have online learning available to health professionals.Objective:...

Introduction: Prematurity, post-maturity, and significant deviations in birth weight are associated with significant morbidities and mortalities.Aim: The aim of this study was to identify the cumulative incidence (CI) of premature, postmature, and term birth rates additionally to find out the prevalence of SGA, AGA, and LGA using INTERGROWTH-21 st fetal growth standards.Methods: Th...

Introduction: Many potential factors can affect or be influenced by placental size. These include gestational age, maternal age, race, socioeconomic status, and gender of the baby.Aim: We investigated the possible association/s between placental weight on the one hand and birth weight, gestational age, maternal age, and gender of the baby in a large cohort of newborns (n = 80722)Me...

Introduction: 21-Hydroxylase deficiency is the most frequent inborn error of steroidogenesis causing congenital adrenal hyperplasia (CAH). Bone status is affected by chronic glucocorticoid therapy and excess androgen exposure in patients with CAH. Our objective is to evaluate the bone mineral metabolism and density in adulthood in a Tunisian cohort.Subjects and Methods: We underwent a prospective study of 26 patients ove...