Pituitary hyperplasia mimicking macroadenoma associated with primary hypothyroidism in a patient with selective L-thyroxine malabsorption

We present the case of a 29-year-old woman who developed a severe hypothyroidism induced by a thyroxine malabsorption and a secondary pituitary hyperplasia. We performed thyroxine absorption tests to diagnose the malabsorption and to evaluate the best therapeutic intervention. Once assessed a correct therapy lowering TSH, we observed the regression of pituitary mass confirming our diagnosis of secondary pituitary hyperplasia. We suggest to evaluate any possible reason for thyroxine malabsorption and to consider the hypothesis of pituitary hyperplasia in the presence of pituitary mass together with overt hypothyroidism

Pituitary hyperplasia mimicking macroadenoma associated with primary hypothyroidism in a patient with selective L-thyroxine malabsorption

We present the case of a 29-year-old woman who developed a severe hypothyroidism induced by a thyroxine malabsorption and a secondary pituitary hyperplasia. We performed thyroxine absorption tests to diagnose the malabsorption and to evaluate the best therapeutic intervention. Once assessed a correct therapy lowering TSH, we observed the regression of pituitary mass confirming our diagnosis of secondary pituitary hyperplasia. We suggest to evaluate any possible reason for thyroxine malabsorption and to consider the hypothesis of pituitary hyperplasia in the presence of pituitary mass together with overt hypothyroidism

nutritional benchmarking a top priority

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Phosphodiesterase Type 5 Inhibitors, Sport and Doping

Phosphodiesterase type 5 inhibitors (PDE5i) (e.g., sildenafil, tadalafil, vardenafil, and avanafil) are drugs commonly used to treat erectile dysfunction, pulmonary arterial hypertension, and benign prostatic hyperplasia. PDE5i are not prohibited by the World Anti-Doping Agency (WADA) but are alleged to be frequently misused by healthy athletes to improve sporting performance. In vitro and in vivo studies have reported various effects of PDE5i on cardiovascular, muscular, metabolic, and neuroendocrine systems and the potential, therefore, to enhance performance of healthy athletes during training and competition. This suggests well-controlled research studies to examine the ergogenic effects of PDE5i on performance during activities that simulate real sporting situations are warranted to determine if PDE5i should be included on the prohibited WADA list. In the meantime, there is concern that some otherwise healthy athletes will continue to misuse PDE5i to gain an unfair competitive advantage over their competitors

Endocrine Disrupting Chemicals: Effects on Endocrine Glands

In recent years, endocrine disrupting chemicals have gained interest in human physiopathology and more and more studies aimed to explain how these chemicals compounds affect endocrine system. In human populations, the majority of the studies point toward an association between exposure to endocrine disrupting chemicals and the disorders affecting endocrine axis. A great number of endocrine disrupting chemicals seem to be able to interfere with the physiology of hypothalamus-pituitary-gonadal axis; however, every endocrine axis may be a target for each EDCs and their action is not limited to a single axis or organ. Several compounds may also have a negative impact on energy metabolic homeostasis altering adipose tissue and promoting obesity, metabolic syndrome, and diabetes. Different mechanism have been proposed to explain these associations but their complexity together with the degree of occupational or environmental exposure, the low standardization of the studies, and the presence of confounding factors have prevented to establish causal relationship between the endocrine disorders and exposure to specific toxicants so far. This manuscript aims to review the state of art of scientific literature regarding the effects of endocrine-disrupting chemicals (EDCs) on endocrine system

Epigenetic control of the basal-like gene expression profile via Interleukin-6 in breast cancer cells

<p>Abstract</p> <p>Background</p> <p>Basal-like carcinoma are aggressive breast cancers that frequently carry p53 inactivating mutations, lack estrogen receptor-α (ERα) and express the cancer stem cell markers CD133 and CD44. These tumors also over-express Interleukin 6 (IL-6), a pro-inflammatory cytokine that stimulates the growth of breast cancer stem/progenitor cells.</p> <p>Results</p> <p>Here we show that p53 deficiency in breast cancer cells induces a loss of methylation at <it>IL-6 </it>proximal promoter region, which is maintained by an IL-6 autocrine loop. IL-6 also elicits the loss of methylation at the <it>CD133 </it>promoter region 1 and of <it>CD44 </it>proximal promoter, enhancing <it>CD133 </it>and <it>CD44 </it>gene transcription. In parallel, IL-6 induces the methylation of estrogen receptor (ERα) promoter and the loss of ERα mRNA expression. Finally, IL-6 induces the methylation of <it>IL-6 </it>distal promoter and of <it>CD133 </it>promoter region 2, which harbour putative repressor regions.</p> <p>Conclusion</p> <p>We conclude that IL-6, whose methylation-dependent autocrine loop is triggered by the inactivation of p53, induces an epigenetic reprogramming that drives breast carcinoma cells towards a basal-like/stem cell-like gene expression profile.</p

Prevalence of Spinal Muscular Atrophy in the Era of Disease-Modifying Therapies: An Italian Nationwide Survey

Objective: Spinal muscular atrophy (SMA) is a neurodegenerative disorder caused by mutations in the SMN1 gene. The aim of this study was to assess the prevalence of SMA and treatment prescription in Italy. Methods: An online survey was distributed to 36 centers identified by the Italian government as referral centers for SMA. Data on the number of patients with SMA subdivided according to age, type, SMN2 copy number, and treatment were collected. Results: One thousand two hundred fifty-five patients with SMA are currently followed in the Italian centers with an estimated prevalence of 2.12/100,000. Of the 1,255, 284 were type I, 470 type II, 467 type III, and 15 type IV with estimated prevalence of 0.48, 0.79, 0.79 and 0.02/100,000, respectively. Three patients with SMA 0 and 16 presymptomatic patients were also included. Approximately 85% were receiving one of the available treatments. The percentage of treated patients decreased with decreasing severity (SMA I: 95.77%, SMA II: 85.11%, SMA III: 79.01%). Discussion: The results provide for the first time an estimate of the prevalence of SMA at the national level and the current distribution of patients treated with the available therapeutical options. These data provide a baseline to assess future changes in relation to the evolving therapeutical scenario

Testosterone replacement therapy: the emperor's new clothes

The mean age of the world population has steadily increased in the last decades, as a result of increased life expectancy and reduced birth rate. Global aging has led to a greater worldwide cost for healthcare: hormonal alterations contribute to the pathogenesis of several conditions and might cause a significant reduction in the perceived sense of well-being. Menopause is archetypal of hormonal alterations occurring during aging: in males, sex hormones do not decrease abruptly, yet testosterone levels decrease steadily and continuously during aging, ultimately resulting in late-onset hypogonadism. Treatment of this condition might mitigate most symptoms; however, testosterone replacement therapy (TRT) should be prescribed only in selected patients and it should not be considered as an antiaging treatment. In recent years, different authors have questioned health risks associated with testosterone treatment; while position statements from many scientific societies seem to be reassuring, the Food and Drug Administration has issued a warning in regard to the possible side effects of this therapy. We aim to review recent controversies and discoveries in regard to TRT