ACTA ENDOCRINOLOGICA (BUC)

Thyrotoxicosis crisis is a major emergency due to the brutal occurrence and\r\nexacerbation of untreated or inadequately treated hyperthyroidism. It has uncharacteristic\r\nsigns all of which require immediate treatment. Thyroid hormones may directly influence\r\nmyocardial oxygen supply and demand and cause a critical imbalance resulting in angina\r\npectoris and myocardial infarction. We present a case patient with a fatal myocardial\r\ninfarction (MI) secondary to thyrotoxicosis. The patient presented classical coronary risk\r\nfactors and unknown hyperthyroidism, which was taken into consideration as a possible\r\ncause of the acute coronary syndrome. Although he was under anti - ischemic agents and\r\ndespite normal coronary arteries he developed MI and cardiogenic shock and died due to\r\nthyroid storm aggravated by iodine contrast and catecholamine agents.

Medical therapy of endometriosis is under continuous reevaluation. Hereby we updated the drugs currently available or under investigation for the hormonal treatment of endometriosis.

Context. Endothelial and vascular muscle dysfunctions are incriminated in the pathogenesis of diabetes mellitus (DM)-related vascular complications. However, the time-course of these changes remains unclear. Objective. We aimed to assess the time-dependency of changes that occur in vascular reactivity in aortic rings of rats with streptozotocin (STZ)-induced DM with shortversus long-term DM durations and in age-matched controls. Design. Wistar rats were assigned to young control (n=6), young DM (n=9), aging control (n=6), and aging DM (n=8) groups. DM was induced at 11 weeks of age using STZ (60 mg/kg, i.p.). Methods. At the end of the study (15 weeks of age for young controls and diabetics and 38 weeks of age for aging controls and diabetics), KCl - and phenylephrineinduced vascular contractility, and acetylcholine - and sodium nitroprusside (NTP)-induced relaxation were studied to assess endothelium-dependent and –independent vasodilation. Results. Young and aging controls presented similar vascular reactivity parameters. Acetylcholineinduced vasodilation was reduced in both young and aging diabetics compared to age-matched controls. Furthermore, acetylcholine-induced relaxation was significantly lower in aging compared to young diabetics. Meanwhile, NTPinduced vasodilation and both KCl- and phenylephrineinduced vasoconstriction were only diminished in aging diabetics. Conclusions. These results suggest that endothelial dysfunction is an early, progressive, event in the large arteries of diabetic rats that precedes the dysfunction of vessel musculature. The lack of any change in aortic reactivity in aging controls indicates that the changes observed in aging diabetics are probably due to prolonged, severe hyperglycemia, with a negligible participation, if any, of the advancing age.

Introduction. Pseudohypoaldosteronism (PHA) is a rare condition that can lead to life-threatening hyperkalemia, cardiac arrest and death if not rapidly recognised and treated. Systemic PHA results from the inactivation of variants in genes encoding subunits of the epithelial sodium channel (ENaC). Frequent dose revision is required in oral replacement therapy in patients with systemic PHA. This condition requires a lifelong close follow-up and treatment process in patients. Case Description. In this study, we present the clinical follow-up of a newborn diagnosed with PHA who presented at 9 days of age with severe dehydration, malnutrition, vomiting and lethargy. A novel pathogenic homozygous mutation, c.1536C>A p.(Tyr512*), was identified in exon 11 of the SCNN1A gene. Discussion. Systemic PHA is a rare, life-threatening disorder that may be misdiagnosed in early infancy. Our case highlights a severe systemic presentation associated with ENaC dysfunction. Reporting the clinical course together with genetic findings may improve recognition of severe phenotypes, support earlier diagnosis, and contribute to a better understanding of genotype–phenotype relationships in systemic PHA. Conclusion. Neonates with hyperkalemia and hyponatremia should prompt suspicion of PHA and early aggressive treatment; this case highlights severe systemic PHA and the importance of combined clinical and genetic evaluation.

Many women with polycystic ovary syndrome (PCOS) also present with nonalcoholic fatty liver disease (NAFLD) secondary to obesity and/or insulin resistance. Assuming that fatty liver, by inducing impairments in steroid metabolism might contribute to characteristic hyperandrogenemia in women with PCOS, we studied a group of 44 women with PCOS and a control group of 20 women matched according to age, waist circumference and body mass index. In PCOS group, serum testosterone was significantly higher when the degree of lipid infiltration of the liver (ultrasonographically assessed) was higher (1.34?0.14 ng/mL in steatotic PCOS group vs. 0.72+0.1 ng/ml in non-steatotic PCOS group, p=0.001). Our study offers an additional explanation for high testosterone levels in women with PCOS, implying liver in the pathogenic chain that leads to excess androgen.

The novel coronavirus disease 2019 (COVID-19) pandemic has had a profound impact on antenatal care, forcing authorities to consider some medical services unessential in the pursuit of avoiding the valid risk of patient contamination. The oral glucose tolerance test (OGTT) has been in some cases overlooked for screening in pregnancy, with potential detrimental consequences in terms of not diagnosing and treating gestational diabetes mellitus (GDM). The number of tests has dropped by 35% in 2020 in our hospital. We make a plea for resuming OGTT at 24-28 weeks gestation at least for women considered at high risk.

Aim. Diabetic macular oedema (DME) can develop at all stages of diabetic retinopathy, causing visual impairment and blindness. Modern diets are high in advanced glycation end products (dAGEs), derived from processing methods, exerting a pivotal role in promoting diabetic retinopathy risk. In present study, we investigate the relationship between dietary and serum levels of AGEs and DME in type 2 diabetic subjects. Methods. This case-control study was conducted between July 2018 and February 2019 on 50 case subjects with DME and 40 healthy controls without DM without DME. The sociodemographic characteristics, nutritional status, and anthropometric measurements were evaluated. The advanced glycation end products (AGEs) and receptor for AGEs (sRAGE) levels in serum were analysed. Results. The AGEs levels of the DME group were higher than in the control group (p <0.05). sRAGE levels were higher in the DME group, but not statistically significant (p >0.05). The dietary intake of AGEs was higher in the DME group (p <0.05). It was found that an increase in neck circumference increased the risk of DME (p <0.001). Conclusion. A positive correlation was found between DME and AGEs, dAGE, neck circumference, and waist circumference. For the validity of these results, studies, including controlled nutrition interventions, are needed.

Objective. Gestational diabetes mellitus (GDM) is a common endocrine complication in pregnancy. There are few risk factors that clearly correlate with GDM. Fibroblast growth factor 21 (FGF21) is a metabolic hormone that can regulate glucose metabolism. It has been recognized that serum levels of FGF21 are significantly increased in diabetes and insulin resistance states. The objective of this study was to determine the serum FGF21 levels in women with GDM compared with non-GDM women and its correlation with insulin resistance. Methods. Thirty GDM patients and 60 healthy pregnant controls that matched for maternal and gestational age were selected. Women with previous history of GDM, hypertension, polycystic ovary syndrome, renal or liver failure and drug consumption with effects on glucose or insulin levels were excluded. FGF21 was determined and correlated with biochemical parameters of glucose metabolism and insulin resistance. Results. FGF21 concentration was significantly higher in GDM (264.5±196.2 ng/L) as compared with control groups (59.1±36.5ng/L). Correlation of FGF21 with insulin resistance was not significant. A cut-off 82.07 ng/L of FGF21 had sensitivity of 100% and specificity of 85% for prediction of GDM. Conclusion. FGF21 is increased in GDM and it is independent of insulin resistance. We suggest that FGF21 resistance could be directly involved in pathophysiology of GDM.

Introduction. McCune-Albright syndrome (MAS) is a noninherited, genetic condition defined by the clinical triad: polyostotic fibrous dysplasia (FD), café-aulait skin spots and different hyper functioning endocrinopathies. Case presentation. The patient, a 39-year-old female previously diagnosed with MAS, presented with severe, left-sided skeletal pain and accentuated asymmetrical facial features. Although there were no clinical signs (except type II diabetes) the hormonal dosages revealed GH hypersecretion and ACTH-independent hypercortisolism. The modified bone anatomy rendered the surgical adenomectomy impossible, whereas radiotherapy was not an option due to the increased risk of sarcomatous transformation of FD; therefore somatostatin analogues were used. Cushing syndrome was cured by left adrenalectomy. For the facial dysmorphism, surgical cure was proposed. CT revealed a pituitary microadenoma, severe craniofacial hyperostosis and left-side macronodular adrenal hyperplasia. Conclusion. We report the case of an adult female with MAS associating both acromegaly and Cushing syndrome, the MAS-Cushing syndrome association having been identified only in children up to present. The setting of a therapeutic strategy in these cases is difficult determined by the multiple concomitant tissue damage and by the limited number of therapeutic options available, not only for acromegaly, but also for pain management and the cure of bone deformities.

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