Endocrine Abstracts

We report the case of a 14-year-old female patient with β-thalassemia major (β-TM) that presented numerous endocrine complications following bone marrow transplantion (BMT). The patient was admitted in our department for endocrine evaluation 3 years after BMT. She was diagnosed with β-TM at 1 year of age and received chronic blood transfusions and oral chelating therapy until 2012 when BMT was performed. The patient developed acute skin and intestine graft-versu...

Introduction: Endocrinopathies are a common late effect of haematopietic stem cell transplantation, resulting in thyroid dysfunction, impaired growth and pubertal development during childhood and metabolic syndrome. Because of the possible endocrine complications, transplanted patients need life-long endocrine follow-up.Case report: A 14-year-old male patient with a history of Fanconi anemia (7 years), bone marrow transplant (10 years) and Graves Disease...

Introduction: Osteopenia/osteoporosis in young adults with β-thalassemia major (BTM) is a prominent cause of morbidity despite adequate transfusion and iron chelation therapy. The reported frequency of osteoporosis, even in well treated TM patients varies from 13.6% to 50%, with an additional 45% affected by osteopenia.Case report: We present the case of a 36-years-old male patient with BTM treated for 1 year with teriparatide for osteoporosis. Our ...

Introduction: Primary hepatic neuroendocrine tumours (PHNTs) are a very rare medical entity. Usually, the liver represents the preferential site for metastasis. Large sized, singular nodules are the usual presentation of PHNTs. We report a patient with PHNTs at 4 years of tumour free follow-up.Case presentation: A 45-year-old Caucasian female who presented with nausea, vomiting, diarrhoea, accompanied by diffuse abdominal pain, was found to have on contr...

Introduction: Hypercalcitoninemia has frequently been reported as a marker for medullary thyroid carcinoma (MCT). Still, several physiologic and pathologic conditions other than MCT have been associated with increased levels of calcitonin, including neuroendocrine tumors that can ectopically secrete calcitonin.Case report: We present the case of a 78-year old female patient, incidentally diagnosed with multinodular goiter when performing Doppler ultrasou...

Introduction: The term disorder of sexual development (DSD) refers to a congenital condition characterised by a discordance in the development of chromosomal, gonadal and anatomical sex. The inborn errors of metabolism in these disorders due to genetic mutations lead to anomalous genitalia.Case report: A 16-year-old girl without significant family history was referred to our department for primary amenorrhea. The physical examination revealed: height of ...

Introduction: Rheumatoid arthritis is an inflammatory disease characterized by joint destruction, the erosion being caused by invasion of articular cartilage by the synovial pannus. This chronic systemic disease affects approximately 0.5–1% of the adult population, occurring more often in women than in men (3:1). The etiology is thought to be multifactorial, environmental factors or infectious agents being suggested to play a role, but their contribution is yet to be defi...

Objective: The reported incidence of growth disorders in hematopoietic stem cell transplantation (HSCT) recipients ranges from 20 to 80% and it was usually described in patients that were given total body irradiation (TBI) in the conditioning regimen. Because the effect of chemotherapy-only conditioning is less clear, we investigated the frequency of growth failure in our series of children treated with HSCT for different disorders without TBI as part of the conditioning proto...