ESPE Abstracts

Background: Pheochromocytoma is an uncommon tumor, producer of Catecholamines and causing hypertension in childhood. It is associated to genetic alterations, generally related with RET gene disorders.Method: We present the case of a unilateral familial isolated pheochromocytoma, present in father and son, carriers of a heterozygous mutation in the VHL gene (c.235C > G; p.R79G).Case: Male, 9 years-old with history of fever, prof...

Background: Permanent neonatal diabetes (PND)with heterozygous mutations of KCNJ11, respond to treatment with sulphonylureas. We report a case of PND in a baby, and mother previously mis-diagnosed with Type 1 DM. Both were switched from insulin to oral sulphonylureas. We evaluate the response and evolution.Case report: A male newborn at 37 weeks’ gestation, with a birthweight 2750 g (40thC) and length 48 cm (40thC), was admitte...

Background: Oligo-ovulatory androgen excess in women (polycystic ovary syndrome (PCOS) by NIH definition) is a major cause of subfertility and relates to hepatic steatosis, independently of obesity.Objective: To test whether early treatment of PCOS affects subsequent ovulation rate.Method: Adolescent girls with hyperinsulinemic androgen excess – a subgroup of PCOS – (mean age 16 year; BMI 23.7 kg/m2) randomly r...

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...

Background: Over the last decade, and in light of the COVID-19 pandemic, there has been a substantial increase in the use of digital health tools to track growth and manage growth disorders in children. Paediatric endocrinologists acknowledge the usefulness of these tools in clinical decision making but lack confidence and skills to use them. Atique et al. designed a Massive Open Online Learning Course (MOOC) to increase digital health literacy, and identified...

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...

Introduction: Carbohydrate restriction (CH-R) in adolescents with obesity results in faster BMI reduction and glucose metabolism improvement than diets with normal carbohydrate proportion, without a higher weight regain in the short term. However, data on weight and metabolic trajectories of these patients after a more prolonged follow-up are sparse.Objectives: To evaluate metabolic and body composition evolution during ...

Background: The approach to clinical management of Graves’ disease (GD) is debatable.Objective: This study aimed to identify predictors of remission in pediatric GD.Methods: A longitudinal study of 36 children and adolescents with Graves’ disease followed from 1997 to 2017 at a single pediatric tertiary hospital was performed. Clinical and biochemical parameters, including comorbidities, treatment with anti-thyroid drugs ...

Background: Mammary duct ectasia is a bening breast condition which affects primarily middle-aged to elderly women. However, it can occurs wherever there is breast ductal epithelium.Case presentation: A 9-years-old boy was referred to the regional paediatric endocrine clinic from the General Practicioner due to gynaecomastia. Pubic hair development started at the age of 8. Personal and family history were unremarkable except for a history of coping with ...