Endocrine Abstracts

A 29-year-old female diagnosed 1.5 years ago with Graves’ disease, presented with severe thyrotoxicosis and a large, diffuse goiter after an attempt to taper the anti-thyroid medication. She had also noticed 4 days before presentation right arm mild paresis. The neurological exam confirmed the sensitive and motor deficit. Blood assays confirmed severe thyrotoxicosis (TSH <0.03 mUI/l, fT4=25.6 pmol/l, T3 >500 ng/dl), high levels of anti-thyroi...

Osteoporosis is a polygenic disease. The intensive search for genetic markers has led to the identification of several genetic polymorphisms, associated with the decrease of bone tissue and therefore a higher risk of osteoporosis.The study aimed to evaluate estrogen receptor alpha (ESR1) and vitamin D receptor (VDR) polymorphisms in postmenopausal women with or without osteoporosis and their correlations with bone markers and adipocytokines.<p class=...

Neurofibromatosis type 1 is an autosomal dominant genetic disorder that results from loss of function of the neurofibromin gene, leading to failure of a tumor suppressor mechanism. Usually characterized by ‘café-au-lait’ spots, cutaneous neurofibromas, and a predisposition for tumorigenesis occurring in childhood, NF1 can have variable clinical expression, with ‘mildly symptomatic’ cases eluding diagnosis until adulthood.A 53-yea...

The clinical spectrum of chronic hypocalcemia mimics various neurological and psychiatric pathologies. Although infrequently encountered, the diagnosis of non-iatrogenic primary hypoparathyroidism has to be considered in order to avoid severe complications or at least to improve neurological manifestations.We present two unrelated cases of primary hypoparathyroidism clinically manifested in adulthood (case 1) and childhood (case 2). Very low-levels of PT...

Pheochromocytomas, tumors derived from adrenal medulla, are characterized by a polymorphic clinical picture dominated by paroxysmal hypertension. Between the clinical, laboratory and pathology data, discordances are frequently seen.Patients and Methods: Thirty five cases of pheochromocytoma and paraganglioma (10 men) with adrenal tumors and hypertension were confirmed with pheochromocytoma. They were aged 53.68±12.75 years (36–75), while the tu...

Colocalisation of hormones has been demonstrated for growth hormone (GH) and prolactin in the normal adult human pituitary, and for many other hormones in pituitary adenomas. We have investigated whether colocalisation of GH and other hormones occurs earlier, during onto-genesis. Pituitaries from therapeutically aborted male human fetuses of 15–20 weeks gestational age (with ethical approval) were fixed by immersion in 4% buffered formaldehyde and divided in halves, one o...

Colocalisation of hormones in the adult human pituitary has been demonstrated only for growth hormone (GH) and prolactin (PL) and only for adenomatous tissue. We have investigated whether colocalization occurs earlier in ontogenesis. Pituitaries from male human fetuses of 16–22 weeks gestational age fixed by immersion in 4% buffered formaldehyde and embedded in LR Gold were processed for immunocytochemical double labelling with GH/FSH or GH/LH anti-rat and anti-human prim...

Introduction: Malignant pheochromocytomas and paragangliomas (PPGLs) are rare, and knowledge of the natural history is limited. Material Methods: Data of 7 (7.6%) (out of 109) patients with malignant PPGLs referred to a Tertiary Centre of Endocrinology from Bucharest, Romania, were retrospectively collected. Follow-up ranged from 2004 to 2022. Demographic data, genetic status, site and size of primary tumor, biochemical activity, metastasis time (synchro...

Purpose: GH deficiency (GHD) is associated with increased cardiovascular events, however, the detailed mechanisms have not been assessed yet extensively. We set up this study in order to evaluate cardiac, arterial, and endothelial function, by conventional echo, TDI, and biomarkers (proBNP and troponin I), in GHD patients by comparison with normal individuals with similar cardiovascular risk factors profile.Methods: Thirty GHD patients (46±14 years,...

Pituitary apoplexy is a rare syndrome due to hemorrhagic infarction of a pituitary adenoma. We analyze the circumstances of diagnosis, clinical features and evolution in a retrospective review of patients with pituitary apoplexy admitted between 2000 and 2010, diagnosed by pathological exam and/or suggestive imaging for pituitary haemorrhage.Results: From 31 patients with pituitary apoplexy (11 women, 20 men) with a mean age of 48 years at diagnosis (20&...