Endocrine Abstracts

IntroductionMEN 2A is an autosomal dominant disease, a familial syndrome with a mutation at RET proto-oncogene. %25 of medullary thyroid carcinoma (MTC) is a part of MEN 2A. Herein, we presented a patient with MEN 2A who was found to be heterozygos for RET mutation cause of the association of MTC and papillary thyroid carcinoma (PTC) is very rare.Case63 year old patient was admitted to the endocrinology clini...

IntroductionMucopolysaccharidosis type 4A (Morquio 4A) is an autosomal recessive lysosomal storage disease caused by a mutation in the gene encoding galactosamine 6 sulphatase (GALNS). It’s main clinical features include short stature, skeletal dysplasia, cloudy cornea, hearing loss and dental anomalies. Herein, a case of Morquio 4A, a rare cause of short stature is presented.Case reportA 41 year old fem...

IntroductionImmunological side effects related with use of immune checkpoint inhibitors (ICIs) are named as immune-related adverse events (irAEs). irAEs include clinical pictures such as autoimmune thyroiditis, hypophysitis, primary adrenal insufficiency and autoimmune diabetes mellitus. Nivolumab is an anti-PD-1 (anti-programmed cell death-1) monoclonal antibody approved for the treatment of malignant melanoma, advanced non-small cell lung cancer and ad...

IntroductionGraves’ Disease resistance to anti-thyroid treatment and poor treatment compliance with levothyroxine treatment (pseudomalabsorption) are not common conditions. We presented this case because of the inability to provide euthyroidism with anti-thyroid treatment before the surgery and with levothyroxine after the surgery in the same patient.Case ReportA 24-year-old female patient was admitted w...

Objective11-Beta Hydroxylase deficiency (11ß0HD) is a rare form of congenital adrenal hyperplasia, resulting in glucocorticoid deficiency, virilization and hypertension. In the literature, there are rare case reports of successful pregnancy in a patient with genetically confirmed classic 11ß0HD.CaseOur patient, now age 31, was diagnosed at birth with ambiguous genitalia. There was no family history ...

AimLockdown order during COVID-19 pandemic caused a sedentary life-style and disruptions in eating and sleeps patterns of obese patients. In this study, it is planned to evaluate the clinical and metabolic effects of this period on obese patients.MethodsThis study included 44 obese patients who were followed up in Endocrinology and Metabolic Diseases Clinic of Karadeniz Technical University. In this study, me...

IntroductionIn clinical practice, differentiating between the types of diabetes is not always possible. In recent years, there has been an increase in the cases of Type 2 diabetes triggered by diabetic ketoacidosis in young-adult age individuals, and this condition is known as ketosis-prone diabetes (KPD). In this report, we present a case of autoantibody-positive KPD who had an adequate pancreatic reserve and an atypical phenotype due to having a normal...