ESPE Abstracts

Introduction: Changes in thyroid function and thyroid function tests occur in patients with β-thalassemia major (TM). The frequency of hypothyroidism in TM patients ranges from 4% to 29 % in different reports. Bone marrow transplantation (BMT) is based on destruction of the patient’s bone marrow with rescue of haematopoietic stem cells from a donor. Chronic graft-vs-host disease (GVH) is the major complication post-BMT and mimics some autoimmune diseases, such as ...

Growth Hormone (GH) deficiency is the most common pituitary hormone deficiency in children. Magnetic Resonance Imaging (MRI) of the brain detects structural pituitary anomalies associated with GH deficiency. The prevalence of MRI abnormalities in patients with GHD, ranging from 25.9–100.0%. The Growth Hormone Research Society currently recommends that an MRI of the brain, with particular attention to the hypothalamic–pituitary region, should be carried out in any chi...

Introduction: Differenciated thyroid cancer (DTC) is a rare disease in children and adolescents, it concerns approximatively 1.4% of all pediatric malignancies. Papillary thyroid carcinoma (PTC) is the most common subtype of DTC in pediatric as well as in adult with necessity of radio iodine therapy after surgery.Aim: The aim of our study is to evaluate follow up after iodine therapy in childhood patients treated for...

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: We refer to precocious puberty when signs of puberty appear early: before the age of 8 in females and before the age of 9.5 in males. The objective of our study is to evaluate the interest of the LHRH test in the exploration of early puberty.Materials and Methods: A retrospective descriptive study including 19 cases who presented with signs of precocious puberty. A clinical and hormonal evaluation was perfo...

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, ...

Background: Patients with mutations of the short-stature-homeobox-containing (SHOX) gene likely have impaired growth, with or without a spectrum of skeletal anomalies consistent with mesomelic skeletal dysplasia. In a multinational clinical trial, GH has been shown to increase growth rate and final height (FH).Objective and hypotheses: The aim of this analysis was to describe FH outcome after GH treatment in an observational setting (Genetics and Neuroen...

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: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessively inherited disorders of various enzymes participating in the adrenal steroidogenesi. 21-hydroxylase deficiency (21-OHD) is the most common type of CAH (90–95%). Less frequent types of CAH are 11β-hydroxylase deficiency (up to 8% of cases), 17α-hydroxylase deficiency, 3β-hydroxysteroid dehydrogenase deficiency, P450 oxidoreductase deficiency and StAR defici...

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...