Endocrine Abstracts

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: 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: 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: Patients with benign thyroid disease may present an impaired Quality of Life (QoL). However, evidence of cosmetic complaints in patients with thyroid disease is limited. The aim of the current study was to investigate the cosmetic complaints of patients with thyroid disease and determine any associations with specific clinical characteristics.Methods: A cross-sectional study was performed. Patients with benign thyroid disease who attended t...

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...

Introduction: Thyroid autoimmunity has been associated with the diagnosis of differentiated thyroid (DTC) cancer in surgical series. However, this finding has not been consistent in Fine Needle Aspiration Biopsy (FNAB) cytology series.Aim: We aimed to investigate the association between thyroid autoimmunity and DTC in patients who underwent ultrasound-guided FNAB.Methods: A retrospective analysis of patients who had undergone ultra...

Introduction: Thyroid sonography has become the first line diagnostic procedure for thyroid nodules. The characterization of specific sonografic patterns associated with high risk of malignancy has enabled physicians to determine which nodules are more likely to be malignant and thus merit further evaluation.Aim: We investigated whether the ultrasonographic nodule characteristics proposed in the literature were able to predict cytology findings after ult...

Background: Lymph node metastasis from papillary thyroid cancer without detectable primary within the thyroid gland is extremely rare. We describe a case of a young woman with a cervical metastasis, without detectable orthotopic or ectopic thyroid focus.Case report: A 30-year old woman with a history of adenocarcinoma of the ascending colon six years previously, presented at the 15th week of a normal second pregnancy, for management of subclinical Hashim...

Introduction: Adrenal Incidentalomas (AIs) have been associated with an increased risk of metabolic syndrome and dyslipidemia, though evidence regarding the latter is limited and, sometimes conflicting. Lipid abnormalities in patients with AIs have been described to be associated with subclinical hypercortisolism. Our aim was to test if lipid profile in patients with adrenal incidentalomas may predict subclinical Cushing’s Syndrome (sCS).Material an...