ESPE Abstracts

Introduction: Delayed puberty is defined as the absence of the development of sexual characteristics beyond the age of 14 for boys and 13 for girls. To better understand this pathology, we conducted a retrospective study over a period of 7 years; between 2013 and 2020, involving 11 patients with a delayed puberty, followed by a pediatric endocrinology consultation at the children’s hospital Ibn Sina in Rabat.Patients:</stro...

Introduction: Mutations in Insulin Receptor (INSR) is usually associated with insulin resistance and hyperglycemia. Homozygous or compound heterozygous mutations in INSR are usually linked with Rabson-Mendenhall or Donohue syndromes whilst heterozygous INSR mutations are associated with type A insulin resistance. Various autosomal dominant heterozygous INSR mutations leading to hyperinsulinemic hypoglycemia (HH) have been de...

Background: Hypophosphatemic rickets (HHR) is a vitamin D-resistant rickets and results in children in variable degrees of delayed walking, waddling gait, leg bowing, enlarged cartilages, bone pain, craniostenosis and growth failure. There are both inherited and acquired forms, where FGF23-dependent forms with X-linked dominant hypophosphatemic rickets (XLH) head of the list is the most prevalent genetic form; molecular defects of the sodium-phosphate co-trans...

Background: Intussusception is a life-threatening illness, with incompletely understood etiology, although some predisposing factors are known. Intussusception frequently occurs in well-nourished chubby infants.Aims We aimed to determine whether patients presenting with intussusception have a high prevalence of obesity.Patients and Methods: This cross-sectional study was conducted ...

Disorders of sex development (DSDs)represent a diverse group of clinical conditions which have a very wide phenotypic spectrum associated with a complicated molecular background.Such conditions are considered among the most common birth defects andare frequently associated with congenital abnormalities.Herein we present 62 patients with DSD associated with somatic anomalies. Patients were selected from clinical genetics dept., NRC. They underwent complet...

Background: type I diabetes is associated with progressive destruction of pancreatic β-cells with gradual decline of insulin secretion. C-peptide is considered the best indicator of endogenous insulin secretion in patients with diabetes.Aim of the Work: evaluate the effect of different variables associated with preserved pancreatic beta cell function at one year after diagnosis of children with type I DM.<p c...

Background: Down syndrome (DS) is associated with thyroid dysfunction including both congenital and acquired hypothyroidism (HT) However, data about thyroid function in infants < 1 year with DS is scarce.The aim of this study was to investigate the prevalence of different thyroid dysfunctions in a cohort of infants with DS (n = 47) (22 M, 25 F) and follow up their linear growth and weight gain for an average of 4 years.<p cla...

Anthropometric somatotype components show significant resemblance in monozygotic (MZ) and dizygotic twins (DZ) twins within each sex with a greater resemblance within MZ twin pairs than within DZ twin pairs. In many studies a significant positive correlation was found between the parental height and the height of girls with TS.This girl with Turner syndrome {46, X, i(Xq) presented at the age of 7.5 years for evaluation of her short stature. Her clinical ...

Introduction: The Middle East and North Africa (MENA) region has witnessed increasing number of researchers over last decade; for example, in-between 2015 and 2016, the number of researchers (in full time equivalent) per 1 million inhabitants was 2.4K in UAE, 1.1K in Morocco, 680 in Egypt, 604 in Qatar and 242 in Oman. Research and Development investment among Arabic countries was the highest in Tunisia, Egypt, Morocco, Saudi Arabia and the United Arab Emirate...

Brown tumor is a rare non-neoplastic focal giant cell lesion resulting due to increase osteolytic activity by excess of parathormone in cortical bone which is replaced by fibrovascular tissue, giant cells with hemorrhages and hemosiderin. It is a rare late stage bone sequelae of long standing hyperparathyroidism. Parathyroid adenoma is the commonest cause of primary hyperparathyroidism.We present a referred case of 15-year-old girl with highly aggressive...