ESPE Abstracts

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...

Introduction: Nutritional education is a cornerstone in the management of the type 1 diabetic patient in combination with insulin and physical activity. The objective of our study was to explore the nutritional profiles of type 1 diabetic children during their first hospitalization.Materials and methods: This is a retrospective descriptive study carried out 100 type 1 diabetic patients less than 15 years old hospitalized in the Endocrino...

Introduction: During this year, scientific research revolves around COVID-19, with so many unanswered queries in term of pathogenesis; complications, and mortality rate; in light of limited pediatric evidence. The close relation between COVID 19 and new-onset diabetes especially in children is still an unresolved issue. Our paper, exhibits an unique presentation of DKA misleading COVID 19 diagnosis at this ageCase presentation: A three-y...

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...