Endocrine Abstracts

Introduction: Sex hormone binding globulin (SHBG) levels have been associated with the development of the metabolic syndrome. In particular, low SHBG levels have been proposed as an indicator of increased risk for metabolic syndrome in men. The (TAAAA)n repeat polymorphism SHBG gene is believed to affect SHBG levels. In vitro experiments have shown that the allele with 6 TAAAA repeats is associated with decreased transcriptional activity of SHBG gene. The aim of this study was...

Polycystic ovary syndrome (PCOS) is a common endocrinopathy with hyperandrogenemia to be its strongest genetically determined characteristic. Our aim was to investigate the potential synergy of two functional polymorphisms: the (TAAAA)n polymorphism of the sex hormone-binding globulin gene (SHBG) known to be associated with PCOS and influence serum SHBG levels (longer repeats were associated with lower SHBG levels) and the (CAG)n polymorphism of androgen receptor gene (...

Objective: Thyroid autoimmunity has been proposed as a risk factor for impaired health-related Quality of Life (HRQoL), depression and anxiety, though evidence is still limited. The aim of the current study is to assess the association of thyroid autoimmunity with quality of life in patients with benign thyroid disease.Design: A cross-sectional study was implemented, that included consecutive patients with benign thyroid diseases who visited the outpatie...

Introduction: Hajdu Cheney Syndrome (HCS) is a rare genetic autosomal dominant disorder affecting multiple organ systems, characterized by distinctive facial features, acroosteolysis and severe osteoporosis. In a limited number of cases, the disease appears in association with polycystic kidney disease (PKD) or Crohn’s disease (CD). Splenomegaly has also been reported. Heterozygous gain-of-function mutations in NOTCH2 gene have been confirmed to be the cause of H...

Introduction: Tertiary hyperparathyroidism can be developed in cases of persistent or non-curable secondary hyperparathyroidism or in any other case of long-standing hypocalcemia that leads to the autonomous function of at least one parathyroid gland. We present a case of a man with tertiary hyperparathyroidism and excessive maxilla swelling and extensive bone lesions.Presentation: A 32 years old man, with chronic renal failure on dialysis for twelve yea...

Introduction: Primary hyperparathyroidism associated with multiple myeloma has been rarely reported to coincide, but relapse of previously remitted primary hyperparathyroidism concurrent with a plasma cell proliferative disorder has not been described.Case report: A 76-year-old female was referred to the endocrine clinic for evaluation of primary hyperparathyroidism discovered incidentally during hospitalization for angina. She had a corrected calcium of...

Introduction: Adrenal cystic lesions are rare. Differential diagnoses include pseudocysts, echinococcal cysts, hemangiomas, cystic pheochromocytomas, adrenal hematomas and lymphangiomas. We present here a rare case of an adrenal lymphangioma.Case report: A 35-year old man was referred to our department for investigation of a right adrenal cystic mass, incidentally found during an abdominal ultrasound. The patient was completely asymptomatic and had a med...

Introduction: PD-1 inhibitors are powerful disruptors of self- tolerance and autoimmune diabetes develops in up to 0.9% of patients. Lipodystrophic insulin reactions, although uncommon with human insulin analogs, are a recognized cause of impaired insulin delivery in patients on intensive insulin regimens. We describe a patient with resistant lymphoma and nivolumab-induced autoimmune diabetes, who suffered loss of glycemic control due to early radiation-induced subcutaneous fi...

Introduction: Subclinical hypercortisolism (SH) has been reported in 5–20% of patients with adrenal incidentalomas (AIs), with various cardiometabolic consequences. We intended to investigate the contribution of DHEAS to standard testing, as another indicator of autonomous cortisol secretion in AIs.Materials and methods: Ninety consecutive patients (n=90) with AIs were included in a prospective cohort study. SH was diagnosed if ≥2 cri...

Introduction: Although Graves’ orbitopathy (GO) is common in the course of Graves’ disease, dysthyroid optic neuropathy and corneal breakdown are rare. We describe two cases of severe GO treated successfully with rituximab.Case 1: A 50-year-old female smoker with Graves’disease, presented with disfiguring eyelid edema, exophthalmos and diplopia, preserved visual acuity and clinical activity score (CAS) ≥ 5. She received pulsed medrox...