ESPE Abstracts

Introduction: Acromesomelic dysplasia, type Maroteaux (AMDM) is a rare autosomal recessive skeletal dysplasia, characterized by severe dwarfism and disproportionate shortening of the extremities, predominantly affecting middle and distal limb segments. It results from loss-of-function mutations affecting the C-type natriuretic peptide (CNP) receptor (NPR-B), a transmembrane guanylyl cyclase receptor encoded by the NPR2 gene. Resistance to growth hormo...

Short-chain L-3-hydroxyacyl-CoA (SCHAD, HADH) deficiency is characterized by diazoxide-responsive hyperinsulinemic hypoglycemia in the neonatal or infancy periods. These patients have severe protein (especially leucine) sensitivity. HADH mutations are recessively inherited with less than 50 patients reported so far. The mechanism behind unregulated insulin secretion in SCHAD deficiency is not understood but may involve changes in protein-protein interactions with glutamate deh...

Introduction: Fanconi anemia (FA) is a very rare, complex and chronic genetic disorder. The diagnosis is most often made at pediatric age. Hematopoietic stem cell transplantation (HSCT) is the only curative treatment for bone marrow failure. FA on its own as well as its treatment can affect the endocrine system. We report the case of a child followed for 12 years after HSCT for FA.Observation: A patient has been followed since the age of...

Introduction: Graves’ disease is a common etiology of hyperthyroidism. The association of Graves’ disease and idiopathic combined pituitary hormone deficiency (ICPHD) is rare. We report the case of a patient followed for ICPHD who developed Graves’ disease during follow-up.Observation: A 13-year-old patient consults for stature delay. She had a family history of idiopathic hypogonadotropic hypogonadism in a 25-year-old bro...

Introduction: Type 1 neurofibromatosis (NF1), also called Recklinghausen’s disease, is one of the most common genetic diseases. It is autosomal dominant inherited. Its diagnosis is based on the presence of a familial history of NF1 in a first-degree relative and on the presence of a set of clinical arguments. Endocrine manifestations may exist. The most common are pheochromocytoma and precocious puberty, but other endocrine disorders can be observed more ...

Background: Congenital hyperinsulinism (CHI) is the commonest cause of persistent hypoglycaemia and is due to the unregulated secretion of insulin from the pancreatic β-cells. The role of glucagon like peptide-1, gastric inhibitory polypeptide (GLP1/GIP), and dipeptidyl peptidase-4 (DPP4), is currently unknown in patients with CHI.Objective and Hypotheses: To understand the expression pattern of DPP4 in focal and diffuse disease CHI.<p class="ab...

Background: Congenital adrenal hyperplasia (CAH) is one of the most common inherited endocrinal disorders. Steroid 11β hydroxylase deficiency (11βOHD) is the 2nd most common form of CAH. It is a rare AR disorder caused by CYP11B1 mutations with an incidence of 100 000–200 000 in overall population.Objective and hypotheses: To detect 11β hydroxylase deficiency in patients presenting with clinical manifestations and hormonal findings su...

Background: The incidence of Disorders of sex development (DSD) in Egypt was reported to be 1 in 3,000 live births. Late diagnosis, severe salt wasting with high morbidity and mortality, and inappropriate sex -assignment are challenging problems that constitute medical and social emergencies. Serum Anti Mullerian Hormone (AMH) and Inhibin B levels are possible tools for assessment of Sertoli cell function that can help early diagnosis of patients with suspecte...

Background: Mutations in Steroidogenic factor 1 (SF-1; also known as NR5A1), a transcription factor involved in sexual differentiation, steroidogenesis and reproduction, have been associated with mild to severe XY and XX DSDs and adrenal failure. Asplenia and complete XY sex reversal were recently reported in a Palestinian patient homozygous for p.R103Q NR5A1 mutation.Clinical Cases: Five Pales...

Introduction: More than 1,106,500 worldwide children were living with type1 diabetes mellitus (T1DM) in 20171. Researchers concluded that better glycaemic control is associating with lesser complications of this chronic condition. Target HbA1c is recommended to be <48mmol/mol(<6.5%) and <53mmol/mol(<7%) as per NICE and ISPAD respectively2. The glycaemic control represented by HbA1c was worse amongst the British gir...