ESPE Abstracts

Introduction: Craniopharyngioma, a benign tumor, develops in the sellar/parasellar region. Diagnosis is usually late. Symptoms include severe headaches and vomiting, visual impairment, visual and olfactory hallucinations and at least one hormonal deficiency. Celiac disease is caused by an immune reaction triggered by gluten in the small intestine. Over time, due to inflammation, it causes malabsorbtion which can affect growth in children.<p class="abstext"...

Background: Clinical outcome data of patients with adrenal insufficiency, who were affected by COVID-19, have been collected as a common initiative by the ESE Rare Disease Committee and ENDO-ERN via the European Registries for Rare Endocrine Conditions (EuRRECa) project. Methods: This Webropol-based questionnaire included a total of 32 questions collecting quantitative and qualitative data. Of the 19 medical centres out ...

Introduction: Depending on the underlying diagnosis, Disorders of Sex Development (DSD) can be associated with an increased risk of germ cell cancers. To date, however, knowledge regarding the indications and timing of gonadectomy is lacking.Methods: The International-DSD (I-DSD) Registry was interrogated for anonymised information regarding the diagnosis, karyotype, sex of rearing and timing of gonadectomy, if undertaken, of all individuals of any karyo...

Introduction: Following the onset of the COVID-19 pandemic in early spring 2020, there was a need to identify the burden of this infection on people with rare endocrine conditions. The European Registries For Rare Endocrine Conditions (EuRRECa) was launched in 2018 in collaboration with Endo-ERN, ESPE and ESE to support the needs of the wider endocrine community. The project consists of an e-reporting (e-REC) platform that allows monthly reporting of new clini...

Background: Correct classification of diabetes mellitus in children and adolescents is essential for appropriate treatment.Case report: A 17 year old female adolescent was referred to our clinic due to hyperglycemia. She complained of dizziness and nausea. Her blood pressure was 160 /100 mmHg; she had hyperglycemia ( 208 mg/dl), a glycosuria and a ketonuria without ketoacidosis. Some members of the family were on insulin...

Background: Correct diagnosis of the etiology of adrenal deficiencies is essential for appropriate treatment.Case report: At the 12th day of life, the girl had suffered an episode of severe salt wasting with marked hyponatremia (109 mmol/l) and hyperkalemia (6.9 mmol/l). Under the assumption of adrenal insufficiency therapy with hydrocortisone and fludrocortisone as well as salt had been started. Unfortunately...

Background/Aims: 46,XY gonadal dysgenesis (GD) is classified as complete (CGD) or partial (PGD) depending on gonadal morphology and function. In contrast to the typical female external genitalia in CGD, the phenotype of PGD is variable depending on androgen production. A diagnosis of PGD is based on clinical/biochemical features, gonadal histology and genetic findings. The aim of this study is to characterise these features, particularly histological, in a lar...

Background: Postural orthostatic tachycardia syndrome (POTS) is a multifactorial condition, which implies symptoms as fatigue, tachycardia, sleep disorders and autonomic symptoms. The fundamental clinical sign is the manifestation of an abnormal increase in heart rates of at least 40 bpm within 10 minutes assuming an upright position, delineating a condition of orthostatic intolerance and decreasing quality of life.Objective</str...

A ten year old girl was brought by the emergency mobile service for a persistent status epilepticus despite administration of Diazepam on site. She had presented headaches for the last three days and one episode of fever was suspected but not measured four days earlier. She had one episode of dizziness five days earlier.Persistent status epilepticus required invasive ventilation as well as deep sedation with Levetiracetam, Midazolam, ketamine, phenytoin,...

Background: Prader–Willi syndrome (PWS) patients have been followed in our country in different ways but without a reference center. In January 2015, we started a PWS reference center in Sao Paulo University to promote a better care for patients and families and to support them with a multidisciplinary team, including pediatric endocrinologist, dietician, nurses, neurologist specialized in sleep disorders and otorhinolaringologist.Method: Forty-two ...