Endocrine Abstracts

Background: Cushing’s syndrome is the most common cause of endogenous hypercortisolism that results from the excessive exposure to glucocorticoids. Even though this syndrome is represented by a constellation of clinical signs and symptoms, the most common next features are the truncal obesity and the moon facies, making it hard not to be recognized. It is more common in women (F/M=5-8:1) with an avarage age of 20–40 years.Case Presentation: A 3...

Multiple endocrine neoplasya type 2 (MEN-2) is a rare hereditary complex disorder caused by a germline activating mutation of the RET proto-oncogene. The estimated prevalence is approximately 1:30.000. Three clinical forms have been described depending on the phenotype: MEN2A (80%), MEN2B and familial medullary thyroid carcinoma (MTC).Clinically, MEN2A present with MTC (80–100%), unilateral or bilateral pheocromocytoma (40%) and primary hyperparath...

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...