Endocrine Abstracts

Cushing’s syndrome results from an excess exposure to glucocorticoids which can result from various causes, divided into ACTH-dependent and ACTH-independent etiologies. An example of ACTH-independent causes are adrenal masses which are either benign adenomas, representing the majority of adrenal mass cases, or by malignant neoplasms. We present the case of a 52 yo woman who presented at the Emergency Department (ER) with thoracic pain and palpitations, for which several c...

Introduction: The prevalence of functioning gonadotropinoma is difficult to assess since most of reports are case reports. Gonadotropinomas rarely lead to a noticeable clinical syndrome. They usually produce symptoms associated with mass effect such as headaches, visual field impairment and hormonal deficiencies.Case report: We present the case of a 38 years old women diagnosed in 2017 with microprolactinoma. She had elevated prolactin level (108 ng/ml) ...

Background: Glucocorticoid-induced osteoporosis is common in chronic diseases as inflammatory bowel disease. Although BMD (bone mass density) is used for the estimation of the quantity of the bone, on the contrary, TBS (trabecular bone score) is a new parameter, a gray-level textural assessment of bone microarchitecture, providing estimation of quality of bone. Several studies showed increased level of TBS during teriparatide treatment in glucocorticoid induced osteoporosis.</...

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 ...

X-linked hypophosphatemia is a rare inherited disorder, yet the most common among the inherited causes of rickets. It is caused by different mutations in the PHEX gene leading to an impaired regulation of fibroblast growth factor 23 (FGF 23) and renal phosphate wasting. Patients with XLH show multiple musculoskeletal complications which usually can lead to early diagnosis in childhood. Nevertheless XLH is a lifelong disease, with multisystemic manifestations, including entheso...

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...