ACTA ENDOCRINOLOGICA (BUC)

Background. Hidradenitis suppurativa (HS) is a chronic, debilitating disease with a profound impact on the quality of life of patients. Objectives. To describe a rare case of HS with postmenopausal onset, to review the literature data regarding late onset HS and to discuss the current knowledge on the role of endocrine abnormalities in the development of HS. Case report. We report the case of a 68-year-old patient in whom HS occurred 10 years after menopause. She was referred to our clinic for the presence of an open fistula on the left groin, fibrotic scars and visible alteration of the vulvar anatomy due to numerous surgical interventions. The patient shared features of the metabolic syndrome (obesity, arterial hypertension, dyslipidemia, aortic atherosclerosis), but showed no signs of virilism and no hormonal abnormality. HS was controlled using antiseptics, topical retinoids and antibiotics. Conclusions. This case is of particular interest given the late onset of HS, long time after menopause. The development of HS requires a complex interaction between genetic predisposing factors, endocrine dysregulation, metabolic alterations, bacterial overgrowth and an aberrant inflammatory response. Evidence points to an important role of sex-hormones in the emergence and progression of the disease, but the underlying mechanisms are still unclear. A better understanding of HS pathogenesis is needed to elucidate the precise way in which endocrine factors influence the disease onset and course. This would guide the way to novel therapies and a better control of this challenging disease.

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Context. Exenatide is a Glucagon-like Peptide-1 receptor agonist, which is widely used for type 2 diabetes mellitus (T2DM). Limited and conflicting results are present about the effect of exenatide on the thyroid gland. Objective. The aim of this study was to evaluate the effect of exenatide treatment on structural and functional features of the thyroid gland in patients with T2DM. Design. The study was a prospective study, performed between 2015 and 2017. The laboratory values and thyroid ultrasonography features were compared before and after exenatide treatment. Subjects and Methods. The study included 39 obese diabetic patients. After inclusion to the study exenatide was started and patients were followed up for 6 months. Total thyroid volume, thyroid function tests, serum carcinoembryonic antigen (CEA) and calcitonin levels, the size and appearance of thyroid nodules were compared between baseline and after 6 months of treatment. Results. Exenatide at a dose of 5μg bid was started, increased to 10 μg bid after 4 weeks. We found a statistically significant decrease in thyroid volume (p=0.043) and serum thyroid stimulating hormone (TSH) levels (p=0.007), whereas serum ATPO. ATGl, fT4, fT3, CEA and calcitonin levels did no change with 6 months of exenatide treatment. There were no significant differences in the size and appearance of the thyroid nodules with treatment. The thyroid volume decrease was not correlated with TSH, body mass index and HbA1c reduction. Conclusion. Exenatide treatment for 6 months decreased serum TSH levels and thyroid volume, but had no effect on thyroid nodules and serum CEA and calcitonin levels.

Context. Suicide is a global public health issue. Bipolar disorder (BPD) has the highest suicide risk among individuals suffering from mental disorders. Serotoninergic dysfunctions have been linked to suicidal behaviour and platelet serotonin is recognised as a reliable index for the presynaptic serotonin activity. Objective. Our aim was to assess whether alterations occur in platelet serotonin concentrations in BPD type I in respect to suicide attempters compared with nonattempters. Design. This was a cross-sectional, observational study. Subjects and Methods. Plasma platelet serotonin concentrations were measured using ELISA technique in 71 BPD I patients. The participants were assigned into 3 groups (non-attempters, low lethality and high lethality suicide attempters), according to the Columbia-Suicide Severity Rating Scale. Socio-demographical and clinical data was obtained by using MINI 6.0 and a semi-structured questionnaire designed specifically for this research. Results. Our study showed significant lower levels of platelet serotonin in suicide attempters compared with non-attempters (p = 0.030) and in high-lethality attempters compared with low-lethality attempters (p = 0.015). The study recorded a higher number of total lifetime and lifetime depressive episodes for suicide attempters with BPD I. Conclusions. Our results subscribe to the importance of platelet serotonin as a reliable biomarker in suicide risk assessment.

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.

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.

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

Objective. One functional neuroendocrine tumor that causes hypoglycemia due to inappropriately high insulin production is an insulinoma. In rats, two genes coding for insulin, insulin 1 (Ins1) and insulin 2 (Ins2) are found on chromosome 1. Ins1 was produced from an Ins2 transcript, and it was inserted into the genome via an RNA-mediated duplication-transposition event, according to some structural feature analyses. Methods. In this study, the author has looked at how overexpression of the PTEN gene in the insulinoma cell line Rin- 5F affects the expression of the insulin genes, Ins 1 and Ins 2. Results. In the insulinoma cell line, overexpression of the PTEN gene boosts Ins2 gene mRNA expression but not Ins1 gene mRNA expression. It has been reported that PTEN upregulates insulin signaling by increasing insulin receptor substrate (IRS)-2 mRNA levels. Also, PTEN has been reported to be secreted in exosomes and thereafter, into extracellular space. Conclusions. The present study suggested that overexpression of PTEN might induce the increasing Ins 2 gene expression, one of the phosphorylated genes against the IRS-2 through the insulin/IGF-1 receptor. Our knowledge of the molecular pathways of PTEN relating the synthesis of insulin has been increased by the present study.

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.

Objective. ARMC5 mutations are responsible for the development of primary bilateral macronodular adrenal hyperplasia (PBMAH). In this study, we aimed to report a novel ARMC5 germline variant in a PBMAH patient family. Method. CT examination and dexamethasone suppression test (DST) were used in the diagnosis of PBMAH. Sanger sequencing was used to validate the familial heredity. For the novel variant, protein predictive analysis was performed to study the changes of secondary and tertiary structures and hydrophobicity. Results. A 45 years old male (proband, III-1) was diagnosed as PBMAH. Whole-exome sequencing (WES) was performed, finding one mutation: c.719_ 724dup, p Arg240_ Pro241dup. Sanger sequencing showed the II-2, III-1, IV-1 with heterozygous gene, confirming the familial heredity. For protein predictive analysis, the predicted secondary structure of variants has one alpha–helix structure incomplete compared with normal ARMC5. The tertiary structure could draw the same conclusion, that hydrophobicity decreases after mutation. Conclusion. We reported a new-found ARMC5 germline variant in PBMAH using WES and protein predictive analysis. With the help of WES, early diagnosis of PBMAH could help variant carriers to prevent the occurrence of cancer by lifetime follow-up.