ESPE Abstracts

Introduction: Type 5 monogenic diabetes is an autosomal dominant disease due to a mutation in HNF1beta gene. This gene is expressed predominantly in kidney and pancreas, thus clinical manifestations are characterised by renal abnormalities and diabetes.Objectives: To review the clinical characteristics of patients who were diagnosed with type 5 monogenic diabetes in the Pediatric Endocrinology Unit of a tertiary referral hospital.<p class="a...

Introduction: Mutations of the GKN gene are the most common cause of Mody diabetes. MODY II typically results in mildly elevated fasting blood sugar, without noticeable diabetes, maintaining good metabolic control without treatment.Clinical case: A 4.5 years old female infant, was referred due to presenting polyuria, polydipsia and fasting hyperglycemia of 126–130 mg/dl and 2 hours post-intake blood glucose level of 150–220 mg/dl. She was born ...

Introduction: Idiopathic intracranial hypertension (IIH) is a rare entity in childhood. It is characterized by signs and symptoms of increased intracranial pressure with normal neurological examination (except for possible paresis of the sixth cranial nerve), cerebrospinal fluid study and neuroimaging. The association between HII and treatment with growth hormone (GH) was first described in 1993 by the Food and Drug Administration and it has later been demonstrated. Incidence ...

Introduction: Pituitary adenomas (PA) in pediatric and young patients comprise a rare pathology of unknown prevalence. The majority are sporadic, but 5% occur in a familial setting, either as isolated (FIPA) or as part of a syndrome. The identification of genetic alterations has broaden the scope of molecular investigations. We describe the clinical characteristics of patients with sporadic PA arising before the age of 35 years and perform thorough genetic scr...

Introduction: Primary hyperparathyroidism (PHPT), often caused by a single adenoma (80%–85%) or hyperplasia or adenomas involving multiple glands, is the major cause of hypercalcemia. PHPT is common and occurs in individuals of all ages, but its prevalence is lower in young adults. Parathyroid tumors and PHPT can be caused by germline (hereditary PHPT) or somatic mutations of tumor suppressor genes (e.g., multiple endocrine neoplasia type 1 and CDC73) and...

Introduction: Steroidogenic factor-1 (SF1), encoded by the NR5A1 gene, regulates several genes involved in male sexual determination, such as SOX9 and AMH, cholesterol mobilization and synthesis of a number of steroidogenic enzymes, like 3βHSD, and androgen biosynthesis, like INSL3. Mutations in NR5A1 have been associated to a broad phenotypic spectrum in 46, XY subjects, including pure gonadal dysgenesis, infertility, anorchia...

Introduction: Congenital hyperinsulinaemic hypoglycaemia of infancy (CHHI) associates with mutations in known genes in approximately 60% of cases. CHHI and mutations in HNF4A gene are reported in 0.5–2.4% in large series. A case of CHHI with renal Fanconi syndrome (FS) and hepatopathy is presented.Clinical description: Male newborn, gestational age: 38 weeks, weight: 4250 g +2.7 S.D., length: 55 cm +3.29 S.D., ...

Introduction: The proopiomelanocortin is a polypeptide of many biologically active peptides involved in many key functions which have not yet been clarified. The mutation in the gene encoding this polypeptide is associated with a clinical trials characterized by early-onset obesity, terciary adrenal insufficiency, and alteration of pigmentation. Eight cases with known genetic mutation have been published.Case report: Newborn male 27 days old from North A...

Introduction: The extracellular calcium-sensing receptor (CaSR) enables the parathyroid glands and other CaSR-expressing cells involved in calcium homeostasis to sense alterations in calcium serum concentrations. Mutations in the CASR gene may produce gain or loss in its activity. Activating mutations cause a hypocalcaemic syndrome of varying severity, as autosomal-dominant hypocalcaemia or Bartter’s syndrome.Case report: We describe a 6 months infa...

Introduction: The European Registries for Rare Endocrine Conditions (EuRRECa) project aims to support the needs of the endocrine and bone community by facilitating the collaboration between patients, health care professionals and researchers across Europe and beyond. It is a project funded by the European Union’s health programme and is the affiliated registry of the European Reference Network for Rare Endocrine Conditions (Endo-ERN). It consists of two r...