ESPE Abstracts

Introduction: Lipodystrophy is the most common dermatological complication in patients with diabetes receiving insulin therapy. Despite the high incidence of lipodystrophy, there are still some difficulties in the practical implementation of prevention recommendations in children and adolescents with type 1 diabetes and their caregivers. This cross-sectional study aims to assess the prevalence of insulin-induced lipodystrophy in a cohort of pediatric patients ...

Introduction: Idiopathic short stature (ISS) is widely recognized as a cause of short stature and poor growth and is arbitrarily defined as a height < -2 SDS without an identified etiology. It is commonly known, through several studies, that malnutrition is considered to be one of the main factors responsible for growth disorders in children and adolescents. We aim ed to evaluate growth outcome by reviewing nutritional influences in patients followed up for...

Introduction: Turner syndrome (TS) is a genetic disorder characterized by the partial or total absence of an X chromosome. It is the most frequent sex chromosome abnormality in females (1). Patients with TS are susceptible to a variety of metabolic abnormalities. Puberty is a sensitive phase of both physical and hormonal development, and its timing can impact the development of metabolic syndrome. This study aims to clarify the impact of the onset of puberty o...

Introduction: 46 XY sex development disorders are a group of rare congenital conditions in which chromosomal, gonadal or anatomic sex is atypical. Less than 20% of cases have a precise genetic diagnosis.We report here the case of a patient suffering from a 46 XY sexual development disorder secondary to the MAMLD 1 gene mutation.Observation: The patient is a nine month infant who was admitted fo...

Introduction: Growth hormone deficiency (GHD) is a non-exceptional cause of short stature. Hormonal evaluation and hypothalamic-pituitary MRI are essential to establish the etiological diagnosis. The objective of our study is to assess the different pituitary lesions found in imaging in a group of children with GHD.Patients and Methods: This is a retrospective longitudinal study of 23 cases of GHD who underwent pituitary...

Introduction: The relationship between the level of vitamin D and the IGF1 is complex. A normal level of vitamin D is necessary for good bone growth. On the other hand, the normal growth process is affected by the excess or the deficit of growth hormone. Thus, the main purpose of our work is to demonstrate the particularity of the vitamin D status of patients with growth hormone deficiency compared to other causes of short stature.<stron...

Introduction: Statural delay is a common reason for consultation in Endocrinology. It is defined as a length less than 2 DS or a slowdown in growth rate. Etiological research involves anamnestic and clinical data. The biological and radiological explorations permitted to select a primary or secondary etiology taking into account the frequency of idiopathic stature delay. The aim of our work is to analyze the clinical, etiological and evolutionary profile of st...

Introduction: Testicular regression syndrome (TRS) also called vanishing testes syndrome is a rare developmental disorder that represents less than 5% of cryptorchidism cases. It is characterized by the absence of one or both testicles with partial or complete absence of testicular tissue. TRS phenotypes are various depending on the extent and timing of the intrauterine accident during fetal sexual development.Material and Me...

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...