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...

IntroductionThe Carney Complex (CNC) is a rare, autosomal dominant, multiple endocrine neoplasia. It involves multiple endocrine glands, cardiac and skin myxomas, mammary fibroadenomas and mucocutaneous pigmentation. Cushing’s syndrome, due to primary pigmented nodular adrenocortical disease (PPNAD), is described in 25% of the cases.Case reportWoman, 21-year-old, was refered for secondary amenorrhea. Med...

IntroductionThyrotropin-secreting pituitary adenomas (TSH-omas) are rare. For this reason each case of TSH-secreting pituitary tumor can help expand extensive clinical experience in world practice.Materials and methodsWe included 40 patients with TSH secreting pituitary adenomas. Hormonal profile: TSH (0.25-3.5 mIU/L), FT4 (9-20 pmol/l) FT3 (2.5-5.5 pmol/l) were measured by Architect i2000SR (Abbott Laborator...

IntroductionPituitary apoplexy is a rare entity characterized by abrupt hemorrhage and/or ischaemia of the constituents of sella turcica. It usually occurs in a previously unsuspected pituitary tumor. It may have an acute or subclinical presentation and it may represent a neuroendocrinological emergency.AimThis study aims to analyze predisposing or precipitating factors, clinical status, imaging and hormonal ...

BackgroundAcromegaly is a rare disease, caused by an autonomous excessive secretion of growth hormone (GH). Apart from skeletal alterations, the GH excess leads to metabolic and visceral disease. Thus, one of the most frequent associated complications is the cardio-vascular one represented by hypertension, cardiomyopathy and ischemic heart disease. The presence of multiple complications in patients with acromegaly leads not only to increased morbidity an...

IntroductionWe present the very rare case of a patient with ovotesticular disturbance of sexual development (DSD) by 46 XX/46 XY genetic chimerism.Case reportA 47-year-old patient with male appearance consulted for gynecomastia developed in the last 3 - 4 years. Clinical examination showed genital organs ambiguity with a small scrotum, no palpable testis, a clitoris instead of penis. Painful bilateral gyn...

Introduction Immune reconstitution therapies (IRT), which include antibody-based cell-depleting therapies targeting CD52+ (alemtuzumab) or CD20+ (rituximab, ocrelizumab) leukocytes, are approved for the treatment of multiple sclerosis. Thyroid autoimmunity is a common adverse effect of alemtuzumab treatment, Graves' disease being the most prevalent manifestation. To date, thyroid autoimmunity events have not been reported with CD20 targeting monoclonal a...

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 ...

IntroductionSilent corticotroph adenoma represent an uncommon subtype of nonfunctioning adenoma, immunoreactive for ACTH, without clinical or biochemical evidence of hypercortisolism and unclear pathogenesis. Usually, they present with local mass effect (visual deterioration being the most common) and endocrine dysfunctions. They carry a more aggressive behavior, particularly upon earlier recurrence.Case presentation<p class="a...

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...