Endocrine Abstracts

Introduction: Sarcoidosis is a multisystemic inflammatory disease of unknown etiology, characterized by noncaseating granulomas, predominantly in the lymph nodes, lungs, eyes and skin, although any organ may be involved.Sarcoidosis may also be associated with endocrine autoimmune diseases such as type 1 diabetes, autoimmune thyroiditis.Case report: We present a case of a 24-year-old young man who was diagnosed in August 2010 with t...

Mammary carcinomas with endocrine differentiation are an uncommon subtype of breast carcinomas that are morphologically indistinguishable from low-grade endocrine neoplasm arising in other organs.Neuroendocrine cells are present in mammary tissue. Neuroendocrine differentiation can be found in benign and malign lesions of various organs. Recent studies have reported the existence of neuroendocrine differentiation in breast carcinomas as being between 3% ...

Introduction: Methylenetetrahydrofolate reductase (MTHFR) is a key regulatory enzyme involved in folate and homocysteine metabolism. The enzyme is encoded by a gene located on chromosome 1p36.3. MTHFR mutations frequently met in the population are C667T and A1298C. The impairment of homocysteine metabolism due to MTHFR gene polymorphism influences the risk for diseases such as CVS diseases, certain types of cancer and is associated with certain complications of pregnancy inclu...

Introduction: Tuberculosis is an insidious disease and may be diagnosed after it afected many organs.Case presentation: We present the case of a 56 years old female, who followed antituberculosis treatment in 2003 for pulmonary tuberculosis and during the treatment developed acute renal failure and for this reason the treatment was stopped. During the evaluations a left kidney tumor was detected. Left nephrectomy was performed in 2003 (HP examination &#1...

Introduction: In human cancer cells DNMTs are responsible for both de novo and maintenance methylation of tumor suppressor genes. Many studies have analyzed the relationship between the altered expression of DNMT1 and DNA methylation in cancer.Aim: To analyze DNMT1 expression in thyroid papillary carcinoma.Design: 49 patients aged 10–82 years hospitalized for thyroidectomy were included between January 2013 and July 2...

Introduction: HOXB4 functions as a transcription factor involved in cell differentiation during embryogenesis and plays a role in apoptosis.Aim: This study analyzed HOXB4 methylation status in thyroid papillary carcinoma.Method: 54 patients aged 10–82 years hospitalized for thyroidectomy were included between January 2013 and July 2013. The inclusion criterion was patients with thyroid nodules with indication for surgery and t...

Objective: To evaluate the comparative effects of different glucocorticoid treatments on growth and sexual maturation in patients with congenital adrenal hyperplasia.Patients and methods: We conducted a retrospective observational cohort study in 78 patients (60 girls, 18 boys) diagnosed with congenital adrenal hyperplasia (CAH), followed-up for a period of 5 years. The majority had 21-hydroxylase deficiency (75 patients), 2 had 11-β hydroxylase def...

Objective: The analysis of the copy number variation of CYP21A2 gene in a cohort of 21-hydroxylase deficiency (21-OHD) pediatric patients in a tertiary referral center from Romania.Methods: A total of 24 patients (21 female and 3 male, 7:1 female to male sex ratio) with previously biochemically and clinically diagnosed 21-OHD were enrolled in this study from October 2020 to October 2021. The age at the diagnosis was 4.6±4.8 years (mean&#177...

Introduction: 21-hydroxylase deficiency (21OHD) is an autosomal recessive disorder and the diagnosis is confirmed by the presence of at least two biallelic pathogenic variants. The phenotype is determined by the less deleterious variant. The relevance of hormonal assessment to distinguish between heterozygote carriers of pathologic mutations and non-carriers or genetically defined 21OHD patients is still a matter of debate. Identifying the heterozygous genotype is important in...

Background: Obesity is associated with adipocyte dysfunction, characterized by an impaired secretion of adipokines, which leads to a systemic inflammatory status.Aim: To characterize adipokines’ profile in a group of obese children and adolescents.Method: A case–control study comparing 102 obese children (BMI ≥95th percentile; aged 10–18 years) to a group of 43 healthy controls matched for age and pubertal stat...