Endocrine Abstracts

IntroductionChromosome 18p deletion syndrome is a rare chromosomal abnormality caused by the complete or partial delation of the short arm of chromosome 18, represented by facial dysmorphic features, hypodontia, microcephaly, short webbed neck, intellectual disability, reproductive system dysplasia, rarely with autoimmune disorders and IgA, IgG or IgM deficiency. A small subset of patients, approximately 9–10% have cardiac/brain disorders. Circa 150...

BackgroundSecondary hyperparathyroidism is a condition that can occur as a result of low vitamin D level. Parathyroid hormone (PTH) has the role of stimulating bone resorption by two mechanisms: direct activation of osteoblasts and indirect stimulation of osteoclast. Exostosis or bone spur is a benign tumor that consists in overgrowth of a pre-existing bone. Exostoses can affect any bone, however they are most commonly located on the bones of the joints ...

IntroductionKleine-Levin syndrome, also called recurrent hypersomnia is a rare sleep disorder characterized by recurrent episodes of severe hypersomnia associated with cognitive and behavioral disturbances such as confusion, derealization, apathy, compulsive eating and hypersexuality. Menstrual-related hypersomnia is classified as a subtype of syndrome Levin-Kleine consisting of recurrent hypersomnia that is temporally linked with menses.<p class="ab...

Introduction: The basis of treatment of primary hyperparathyroidism (pHPT) is parathyroidectomy of the responsible lesion, and thus, preoperative localization is important. Ectopic parathyroid adenomas are rare, and they can be accounted for persistent or recurrent hyperparathyroidism. An intrathyroidal parathyroid adenoma (IPA) is an ectopic variant where the adenoma is either partly (>50%) or completely enveloped by the thyroid gland. The incidence of IPAs ranges from 0....

Introduction: Medullary thyroid carcinoma (MTC) is defined as a rare neuroendocrine tumor originated from the parafollicular C cells of the thyroid, noted for the ability of secreting calcitonin and other peptides. MTC poses a high risk of mortality if left untreated as the tumoral cells can invade nearby tissues, lymph nodes, lymphatic or blood vessels and, ultimately, other organs. Calcitonin is key in the evaluation and treatment protocol as its basal serum levels tend to b...

Introduction: Neuroendocrine neoplasms are rare heterogeneous malignancies originating from neuroendocrine cells throughout the body. The most common primary sites are the gastrointestinal and respiratory tracts, but can originate from almost any organ, some in unusual locations. The diagnosis is based on the confirmation of the endocrine nature of the tumor and secondly the confirmation of its primary nature. We describe two cases with a very rare primary localization of neur...

Introduction: Propylthiouracil is a drug used in the treatment of hyperthyroidism and autoimmunity phenomena have been described as a side effect of its use. Despite anti-neutrophil cytoplasmic antibodies (anca) positivity is frequent in patients treated with propylthiouracil, the occurrence of clinically evident vasculitis is rare.Case report: A 65-year-old woman, diagnosed with hyperthyroidism 2 years ago and treated with propylthiouracil (50+...

BackgroundPropylthiouracil treatment of Graves' disease has been postulated to provoke anti-neutrophil cytoplasmic antibody (ANCA)-associated vasculitis, particularly myeloperoxidase (MPO)-ANCA, however it is unclear whether the abnormal immune environment of autoimmine thyroid disease influences the development of ANCA.MethodsThe occurrence of ANCA and the relationship to thionamide treatment was investigated in 407 patients' with Graves' disease, 200 with Hashimo...

A 22-year old female diagnosed with thyrotoxicosis with raised free thryroxine (16.8 pmol/l) and suppressed thyroid-stimulating-hormone (TSH<0.03 mIU/l). She was started on Carbimazole 20 mg during end of August 2011. A fortnight later she presented with nausea, vomiting, fever and rigors. Her renal functions were deranged with a creatinine of 704 μmol/l, which worsened over the next 48 h. She subsequently needed renal replacement therapy with haemodialysis. She was c...

IntroductionVasculitis with antineutrophilic cytoplasmic antibodies (ANCA) has been reported in patients treated with anti-thyroid drugs, especially Propylthiouracil and exceptionally with benzylthiouracil (BTU). We present here a case of ANCA-anti-MPO-associated vasculitis related to BTU.Case presentationA 46 old women was treated with BTU during 18 months for Basedow’s...