Endocrine Abstracts

Introduction: Life expectancy is decreased in MEN1 patients due to multiple tumors that may be larger, more aggressive, resistant to treatment and with a higher risk of recurrence.Case report: We report a 59-year-old male patient with family history of endocrine tumors (father- pituitary adenoma, son- primary hyperparathyroidism, daughter- microprolactinoma, primary hyperparathyroidism). He was first referred to our Clinic in 2007 after being incidendall...

Introduction: Duchenne muscular dystrophy (DMD) is a genetic condition caused by mutations in the X-linked dystrophin-gene leading to muscle degeneration and early death in males.Since DMD is characterized by aggressive inflammation it is recommended the use of pharmacological treatment with corticosteroids (CS). Type-1 diabetes mellitus (T1DM) is one of the most common chronic diseases in childhood and is caused by insulin deficiency resulting from the autoimmune destruction ...

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...

Corticotroph macroadenomas are exceptionally found in Cushing’s disease. Pituitary apoplexy is a rare endocrine emergency condition caused by either hemorrhage or infarction of the pituitary gland. We report a case of a 56-year-old female diagnosed with type 2 diabetes in 2008. One year after, at the periodical follow up, she presented with uncontrolled diabetes (HbA1c=12.26%) and clinical manifestations suggestive for hypercortisolism, therefore insulin therapy was initi...

Background: Pituitary surgery is the first treatment option for acromegaly. The reported success of pituitary surgery varies between 75 and 95% for microadenomas and 45 and 68% for macroadenomas. The aim of this study was to report our experience regarding the remission rate after pituitary surgery in acromegaly patients.Methods: This retrospective study included 70 patients diagnosed with acromegaly in our clinic between 2009 and 2016. The criteria used...

Aim: Somatic growth results from the generation of new support and connective tissue. Since collagen is the major protein constituent of connective tissue, its synthesis must be a prerequisite for the normal growth. The aim of the study was to determine age-related reference intervals for P3NP, a collagen – formation marker in a group of normal height prepubertal children and to compare to IGF1 levels.Subjects: Forty-three prepubertal children, male...

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: While the unfavourable metabolic consequences of obesity have been clearly demonstrated at a population level, there is a wealth of evidence indicating the existence of individuals somehow protected from developing complications, named ‘metabolically healthy obese’. The aim of our study was to identify clinical and biological parameters independently associated with ‘metabolically healthy’ status.Patients and methods: 44...

N-terminal peptide of type I procollagen (P1NP) is a marker of GH (hGH) anabolic action on bone formation. We evaluated the diagnostic value of P1NP in GH deficiency (GHD) in the transition period using receiver operating characteristic (ROC) plot analysis. We compared the diagnostic value of P1NP with IGF1. 16 male patients (chronological age, 16.6–21.5) with GH replacement therapy during childhood (ten IGHD and six MPHD) were evaluated at minimum 3 months after completi...

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 ...