ESPE Abstracts

Introduction: Obesity and related metabolic diseases occur as a chronic imbalance between energy intake and energy expenditure. Due to its high metabolic activity, brown adipose tissue (BAT) has become a promising target for the development of new treatment concepts for metabolic disease. Having a high concentration of mitochondria, BAT is necessary to control the entire energy metabolism of the body. BAT consumes significant amounts of glucose and fatty acids...

Leptin receptor deficiency is a rare genetic disorder that affects the body’s ability to regulate appetite and weight. For patients and their families, the disorder seriously disrupts daily life, however, little is published about this impact. We here report the experiences of a 10.5-year-old girl with leptin receptor deficiency and her family. The diagnosis of this rare genetic obesity had a deep impact on the life of the child and her family. It led to a better underst...

Introduction: Glucocorticoid-induced osteoporosis is the most frequent cause of secondary osteoporosis. Glucocorticoids are known to diminish β-catenin activity via Wnt pathway signaling, leading to osteoporosis and osteonecrosis. Bone homeostasis depends on the regulation of β-catenin in osteoblasts. Disruption of bone homeostasis, oxidative stress and mitochondrial dysfunction are major causes of glucocorticoid-induced osteoporosis; therefore, alle...

Introduction: The complicated surgical reconstruction of verilized female patients with congenital adrenal hyperplasia (CAH) aims to achieve normal external genital appearance and to maintain normal urogenital and sexual functions.Objective: To study the urological complications including urinary incontinence, urinary tract infection (UTI) and voiding dysfunction besides assessment of cosmetic outcome after surgical corr...

Introduction: Abetalipoproteinemia is a rare genetic disease with autosomal recessive inheritance, caused by biallelic mutations in the microsomal triglyceride transfer protein (MTTP) gene¹. Its worldwide prevalence is estimated at 1:1,000,000², with approximately 100 cases reported in the literature³. Epidemiological data on this pathology in Brazil are not found in the literature.Case Report: J.O.S.C, a ...

Background: Medulloblastoma is the most common malignant pediatric brain tumor. Although survival has improved with oncological therapy, late effects such as endocrine consequences are common, especially growth failure and thyroid dysfunction.Methods: Children diagnosed with medulloblastoma in a pediatric hospital between 2004 and 2014 were studied and followed until 2019. Statistical analysis was performed to estimate t...

Growth hormone (GH) is commonly used during childhood to treat short stature in Silver-Russell syndrome (SRS), but final height and long-term body mass index (BMI) data are limited.Objective: To evaluate height and BMI in older individuals with molecularly confirmed SRS and compare those previously treated with GH to those untreated.Methods: Growth data on individuals aged ≥13 years with SRS were evaluated from UK, French and...

Background: The aetiology of congenital hypopituitarism (CH) is unknown in the majority of patients. In our cohort of 200 cases, it was possible to establish the genetic cause in only 13 patients (6.5%). Copy number variants (CNVs) have been implicated as the cause of genetic syndromes with previously unknown aetiology.Objective: To study the presence of CNVs and its relevance in patients with CH of unknown cause associated with complex phenotypes.<p...

Introduction: Improvements in the treatment of acute lymphoblastic leukaemia (ALL) and non-Hodgkin lymphoma (NHL) have increased survival, with the consequent concern about the long-term effects that childhood chemotherapy may have on ovarian function. AMH constitutes an indirect, reliable biomarker of the ovarian reserve, useful for the assessment of cancer therapy-related ovarian damage.Aim: To evaluate small ovarian f...

Background: A new classification of pseudohypoparathyroidism is available (Thiele et al. 2016, J Endocrinol). The phenotype variability of inactivating PTH/PTHrP Signaling Disorders (iPPSD, former pseudohypoparathyroidism) cases is still very challenging, even for experts. Thus, it is crucial to collect data in a centralized manner for future investigation.Methods: The EuRRECa/EuRR-Bone registries are the first ...