Endocrine Abstracts

Introduction: Bartter syndrome (BS) is a rare autosomal recessive disorder, with an estimated prevalence of 1 in 1.000.000. It is characterized by a primary defect in sodium chloride reabsorption in the medullary thick ascending limb of Henle’s loop. Severe hypokalemia, metabolic alkalosis, hyponatremia, hypochloremia, hyperaldosteronism, and increased urinary loss of sodium, potassium, and chloride can raise the suspicion of BS, but genetic testing is required for a defi...

Introduction: Central pontine myelinolysis (CPM) is a rare and potentially life-threatening complication of a sudden rise in serum osmolality. Along with extrapontine myelinolysis, it is part of the osmotic demyelination syndrome (ODS). Known risk factors include severe hyponatremia, alcoholism, thiazide use, hypokalemia, and malnourishment.Case report: We report the case of a 31-year-old-male with history of alcohol and cannabis dependence, who had atte...

Introduction: The treatment with growth hormone (GH) plays an essential role in the Turner syndrome (TS) management. This study evaluated its efficacy in improving adult height (AH) and metabolic parameters.Material and methods: We retrospectively analysed auxological, biochemical, genetic and pharmacological parameters of 56 girls with confirmed TS. They were categorised according to their karyotype as X monosomy (62%), isochromosome (17%), X mosaicism ...

Objective: Recent studies have shown that sarcopenia at cancer diagnosis is associated with a poor survival in patients with solid tumors. Up to now, few data are available among patients with advanced thyroid cancer, especially those treated with tyrosine kinase inhibitors (TKI). We retrospectively evaluated sarcopenia by Skeletal Muscle Index (SMI) in a cohort of advanced thyroid cancer patients before and during TKI treatment and investigated its association with treatment ...

Introduction: Primary hyperparathyroidism (PHPT) is a common endocrine disorder often diagnosed in asymptomatic individuals on routine biochemical screening, which, if left untreated, can have devastating consequences. The main target organs of PTH are the skeletal system and the kidneys. Asymptomatic hypercalcaemia in young adults is uncommon, and patients who remain asymptomatic should be monitored for the development of complications that justify surgery.<p class="abste...

The authors report the clinical case of a 59-year old female who had vague complaints of impaired vision, fatigue and diffuse pain for more than a year before medical evaluation at our hospital. At the ophthalmology appointment, bitemporal hemianopsia was evident. Brain MRI was the diagnostic test of choice and revealed a mass involving de sellar and suprassellar space, causing compression of the optic chiasm, as well as osteolytic lesions in cranial vault. The patient was the...

Introduction: When facing with non-functioning pituitary macroadenomas (NFPMA), radiological invasion is determinant to surgical approach, apart from histological biomarkers of pituitary tumor aggressiveness (Ki-67; p53 and mitotic index). Invasive tumors usually need additional surgery and/or radiotherapy. There are no much studies describing epidemiological data on aggressive pituitary tumors in clinical practice. We provide information regarding the radiological findings of...

Low plasma sex hormone-binding globulin (SHBG) levels are present in patients suffering chronic metabolic diseases, including non-alcoholic fatty liver disease (NAFLD). However, whether altered SHBG production plays a role in development and progression of this disease is unclear. To investigate SHBG involvement in NAFLD, we studied the effects of overexpressing SHBG in two mouse models, a genetically-induced model, by developing a double transgenic mouse by crossing the human...

Introduction: Prader-Willi syndrome (PWS) is a complex genetic disorder characterised by hyperphagia with progressive obesity, dysmorphic features, hypotonia, mental retardation, behavioural abnormalities and endocrine dysfunctions as hypogonadism and growth hormone (GH) deficiency. PWS is the most commonly identified genetic cause of obesity.Methods: We reviewed five cases of confirmed PWS (three female and two male patients, aged between 8 and 32 years...

We present the case of 13 years old boy referred to our service in June 2013 for bilateral gynecomastia (appeared for ~1 year). The boy’s father presented delayed puberty (at 18-year-old). No other pathological hereditary conditions were reported.Clinical examination revealed: gynoid status with height =167 cm (−1.4 DS), weight=63.5 kg, important bilateral gynecomastia with hypo pigmented areola and painful palpation. Sexual development was PI...