ESPE Abstracts

Background: Disorders of sex development, especially with Y chromosome material, are the main factor of an increased risk of gonadal tumour. The main idea of this study was to investigate the prevalence of gonad tumours in patients with 46,XY gonadal dysgenesis.Methods: This study included 9 patients with 46,XY gonadal dysgenesis: seven patients with partial and two with total gonadal dysgenesis. Among nine patients there were two patients with Frasier s...

Background: Heterozygous familial hypercholesterolemia (FH) is an autosomal dominant genetic disorder occuring in 1:500 people. Patients with FH have a high risk of premature cardiovascular diseases. Today effective lipid-lowering therapies are available and it is a chance to extend the life of patients.Aims and objectives: The aim was to analyse the clinical data of children with FH from the Clinic of Pediatrics, Diabetology and Endocrinology and prelim...

Background: Sotos syndrome is characterized by overgrowth. The four mayor criteria for diagnosis are: overgrowth (accelerated bone age), macrocephaly, characteristic facial features and developmental delay. They can also present escoliosis, heart or genitourinary disease, seizures, hypotonia, cerebral malformations, feeding difficulties, hearing loss and a greater risk of tumours.Case report: A 10 months old girl was referred for overgrowth. BW and BL wa...

Background: Congenital goitre presenting in the newborn period is very rare. Here we present a case of congenital hypothyroidism with a large goitre, leading to trachea compression symptoms. Hormone replacement therapy was started leading to normal levels of TSH, FT4, and thyroid volume. In face of maternal normal thyroid levels, dyshormonogenesis considered to be the most probable cause of hypothyroidism.Case presentation: A male full term ne...

Introduction: Turner’s syndrome (TS) is caused by an abnormality of one of the X chromosomes. Short stature or slow growth is one of the first manifestations of TS and it is recommended that GH therapy should be initiated as soon as it becomes apparent that affected girls are not growing normally to optimise final adult height. Idiopathic intracranial hypertension (IIH) is a well-known side effect of GH therapy, and it has also been reported in girls with TS with or witho...

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: Prader–Willi syndrome (PWS) is a genetic disorder caused by the lack of expression of genes on the paternally inherited chromosome 15q11.2-q13 region. Clinical picture of PWS changes across life stages. PWS is characterized by endocrine abnormalities, such as growth hormone (GH) deficiency, obesity, central adrenal insufficiency, hypothyroidism, hypogonadism, and complex behavioural and intellectual difficulties. The recombinant human growt...

Keywords: recombinant human growth hormone (rhGH), growth hormone deficiency (GHD), short statureBackground: Recombinant growth hormone is used for the treatment of growth hormone deficiency. In children treated early, catch-up growth is excellent, with a normal final height. A final height gain of 30 cm can be expected on average. However, it has long been recognized that there is variability in the magnitude of individ...

Introduction: Neonatal diabetes is a rare condition that can present in the first months of life. Neonatal diabetes has more than 20 genetic origins that are currently known. About 40% of these patients carry mutations in KCNJ11 and ABCC8 genes, which impair the pancreatic beta-cell K-ATP channels and can be treated with oral sulfonylureas. The purpose of this case report is to present a patient diagnosed with neonatal diabetes and the subsequent management of...