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: 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: 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: Familial partial lipodistrophy (FPL) is a rare genetic disorder characterized by a progressive loss of adipose tissue from various areas of the body. Associated complications include diabetes mellitus, hypertriglyceridemia, non-alcoholic fatty liver disease, polycystic ovaries, acanthosis nigricans, premature atherosclerosis.Case presentation: The first case is about a 19-years-old woman, known with insulinoresistance (under metformin) and ...