Acta Endocrinologica-Bucharest最新文献

Context: Oxidative products take part in various physiological processes and overproduction of oxidative products is involved in the etiology of many diseases.

Objectives: We aimed to evaluate thiol-disulfide homeostasis (TDH); one of the oxidative stress parameters, in girls with premature thelarche (PT) and precocious puberty (PP).

Design: This case-control study was conducted between January 2022 and July 2022.

Subjects and methods: TDH parameters, involving native thiol (NT), disulfide, and total thiol (TT), were evaluated in 39 girls with PT, 41 girls with PP and 46 healthy prepubertal girls. The correlations of luteinizing hormone (LH), follicle-stimulating hormone (FSH), estradiol (E2) levels with the TDH parameters were determined and ROC curve analysis was performed.

Results: NT, TT and NT/TT ratio were higher in the PT and PP groups compared to the control group (p<0.01). Disulfide/NT ratio and disulfide/TT ratio were lower in the PT and PP groups compared to the control group (p<0.05). All the TDH values did not statistically differ between the PP and PT group (p>0.05). There was a positive correlation between LH level, FSH level, and NT level, TT level, NT/TT ratio. The best parameter to discriminate PT or PT and control groups were NT and TT (p<0.01).

Conclusion: TDH is altered in girls with PT and PP. NT and TT levels can be useful to discriminate prepubertal girls with lipomastia and girls with PP and PT in clinical practice. Further studies on larger cohorts of patients are required to clarify our results.

Primary bilateral adrenal lymphoma is a very rare cause of adrenal insufficiency. We report the case of a 63-year-old woman who presented with signs and symptoms of impending adrenal crisis when referred for evaluation of large bilateral adrenal masses diagnosed on a computed tomography scan two weeks prior. Based on a high clinical suspicion of adrenal insufficiency, patient was initiated on glucocorticoid and mineralocorticoid therapy prior to laboratory confirmation of adrenal insufficiency. After stabilizing the patient and excluding pheochromocytoma, we proceeded with adrenal biopsy that revealed a nongerminal center-type diffuse large B-cell lymphoma. Our patient was treated with R-CHOP chemotherapy, with good response after 3 cycles but eventually died after the fifth cycle from neurologic complications. This case highlights the notion that primary adrenal insufficiency should be considered in patients presenting with bilateral adrenal masses. Although primary adrenal lymphoma is a very rare adrenal malignancy it should be considered in patients presenting with bilateral rapidly growing adrenal tumors and primary adrenal insufficiency.

Context: Parathyroid carcinomas (PC) are rare. Imaging and laboratory tests can suggest a diagnosis of PC, but pathological examination is ultimately required to confirm the diagnosis.

Objective: The clinicopathologic data, diagnosis, and treatment of a case of PC diagnosed in our hospital in 2022 are retrospectively summarized in this case report to improve the understanding, diagnosis, and differential diagnosis of this disease.

Design: Case report.

Subjects and methods: Herein, we present the case of a 35-year-old man who presented with imaging and laboratory findings suggestive of a parathyroid neoplasm.

Results: The patient underwent radical resection of the tumor, which was histopathologically diagnosed as PC.

Conclusion: In this case, the clinical manifestations of PC were insidious, and the histological features had to be differentiated from tumors, such as parathyroid adenoma, clear cell renal cell carcinoma, and medullary thyroid carcinoma; thus, its diagnosis was challenging.

We present the case of a 32 yeas old male, diagnosed 7 years ago with Graves disease, with numerous recidives which needed anti-thyroid medication, with poor response (hypo to hyper-thyroid status, with high variations of TSH and FT4) whom after a period of remission (8 months, no treatment) came in for a polymorphic symptomatology sugestive for hyperthyroidism. The hyperthyroid state was confirmed he had high TRAb (31 UI/ml vs. <1.75 UI/ml) - on his last check in the detection rate of TRAb was under 0.3 UI/ml. The thyroid ultrasound revels on the left lobe a small mass of 0.8/0.8 cm, with EU-TIRADS score of 4, that was newly diagnosed. Postoperative histopathology revealed papillary microcarcinoma developed on Hashitoxicosis- pT1aN0, of 1 mm in the middle of left thyroid lobe. The particularity of this case consists in a long evolution of Graves disease with numerous relapses, the appearance of a thyroid nodule after 7 years in which they identified a papillary microcacinoma associated with Hashimoto thyroiditis and also the postoperative recovery that was slowed by the parathyreoprive tetany.

Introduction: Vitamin D [25(OH)D] deficiency is prevalent in chronic kidney disease (CKD), related to bone turnover and potentially involved in arterial calcifications.

Objective: To evaluate vitamin D status in non-dialysis CKD patients and its relationships with bone turnover markers (BTM) and arterial calcifications.

Design: Cross-sectional, prospective, multicentric study.

Subjects and methods: One hundred twenty-eight CKD patients (median age 61 years, 58% males, median eGFR 29mL/min) were included. Comorbidities, mineral and bone metabolism parameters were evaluated. Total alkaline phosphatase (T-ALP) was used to assess bone turnover. Atherosclerosis was evaluated by carotid intima-media thickness (CIMT), endothelial calcifications by aortic calcification score (ACS), and arterial stiffness by cardio-ankle vascular index (CAVI). Vitamin D deficiency was defined as 25(OH)D <15 ng/mL. Factors associated with vitamin D, T-ALP and vascular parameters were assessed in multivariate regression models.

Results: Prevalence of vitamin D deficiency was 63% and median 25(OH)D was 12.8 ng/mL. Older age, female sex and higher parathormone were predictors of vitamin D deficiency. Increased T-ALP was predicted by higher parathormone, suggesting high turnover bone disease. While age was a determinant of all evaluated vascular parameters, lower 25(OH)D was associated only with endothelial calcifications, which correlated with CAVI, suggesting a direct relation between vitamin D deficiency mediated plaques calcification and arterial stiffness.

Conclusion: Vitamin D deficiency was highly prevalent in this non-dialysis CKD cohort and was related to age, sex and parathormone. Vitamin D deficiency was associated with increased calcifications of endothelial plaques, which seemed to increase arterial stiffness.

Objectives: The exact pathogenesis of the endometriosis is not apparent. MicroRNAs (miRNAs/miRs) are non-coding RNAs that regulate gene expression at the post-transcriptional level. MicroRNAs can be used a diagnostic and therapeutic tools in different disorders such as endometriosis. MiR-181 has a function in embryo implantation. The main aim of this study is to evaluate the expression of miR-181 and its relationship with HOXA11 gene expression in ectopic and eutopic endometrium tissues in women with endometriosis.

Study design: Thirty-four women participated in this study. Ectopic tissue samples (N=17) were collected via laparoscopic surgery, and eutopic tissue samples (N=17) were obtained from an endometrial biopsy. Endometrial tissue samples without endometriosis were considered the control group. Tissue samples were placed in RNase-free microtube with RNAlater™ Stabilization Solution (Thermo Fisher Scientific) and were kept at -80 °C. Quantitative real time-PCR for MiR-181 and HOXA11 genes were performed.

Results: MiR-181 expression level increased in eutopic tissue samples compared to the control group. This expression showed a significantly decrease in an ectopic group compared to the eutopic group. It was observed that HOXA11expression decreased remarkably in eutopic group compared to the control group and increased in ectopic group compared to the eutopic group.

Conclusion: MiR-181 and HOXA11 are promising strategies in endometriosis disease. Understanding this relation and regulation roles contribute to realizing the etiology of endometriosis.

Context: 49,XXXXY syndrome is an aneuploidy that affects males and is commonly referred to as a variant of Klinefelter Syndrome. It presents a frequency of 1:85,000 to 100,000 births and an etiology related to non-disjunction of homologous chromosomes. Findings include skeletal abnormalities, hypogonadism, and cognitive impairment. Turner syndrome is also an aneuploidy of the sex chromosomes, which affects women, and has a prevalence of 1:2000 to 2500 births and a phenotype characterized by short stature and sexual infantilism.

Objective: The objective of this article was to study the literature, investigate the family members and report the case.

Subjects and methods: Data collection was based on medical records, family history, karyotype analysis, and FISH analysis.

Results: The karyotype of the proband revealed mos 49, XXXXY[45]/46, XY[5]. The patient's mother is affected by mosaic Turner Syndrome low level and the maternal grandmother by inversion of chromosome 9. The father, the younger brother, and the paternal grandmother present variations in the normality of their chromosomes.

Conclusions: It is important to highlight that the early diagnosis of the syndrome and the initiation of therapy reduce biopsychosocial impairment. Investigation of other family members makes genetic counseling more effective.

Introduction: Radiation-induced hypothyroidism is a well-recognized entity that occurs after an interval of 15-21 months. However, in the treatment of locally advanced Head and neck Squamous cell carcinoma (HNSCC), thyroid-sparing techniques are infrequently employed.

Aims: To evaluate the dosimetric and early clinical outcomes of thyroid-sparing SIB-VMAT technique (Simultaneous Integrated Boost - Volumetric Modulated Arc Radiotherapy) in patients of locally advanced HNSCC.

Methods: In this two-arm prospective pilot study, patients in the study group received radiotherapy by SIB-VMAT technique with a thyroid constraint to a dose of 70 Gy to the gross disease and 59.4 Gy to nodal and subclinical disease in 33 fractions over 6 ½ weeks with concurrent cisplatin. V50Gy<75% was the thyroid constraint used. The control group was treated with the same dose and technique but without using a thyroid gland constraint. The dose-volume parameters of the thyroid gland, PTV (Planning Target Volume) along with thyroid profile were analyzed.

Results: Twenty-six patients were recruited. Thyroid V50Gy of the study group (65.33 ±6.63 %) was significantly lower than that of control group (80.35 ±13.40 %) (p=0.003). Tumor dose parameters of both groups were compared and revealed no significant difference. At 18 months follow-up, the incidence of any degree of hypothyroidism was 46.15% in the study group and 23.07% in the control group (p=0.216).

Conclusion: In locally advanced HNSCC, it is feasible to spare the thyroid gland without compromising the tumour coverage. This has the potential to reduce the frequency of radiation-induced hypothyroidism.

Context: In obesity, the infiltration of leukocytes into adipose tissue seems to play a key role in the development of inflammation and insulin resistance. Over-expression of adipophilin (ADPH) in adipose tissue, a protein which regulates lipid droplet structure and formation, has been reported in some studies.

Objective: To investigate the role of ADPH 129-137 as a target for CD8+ T-cells in PBMCs of patients with obesity.

Subjects and methods: PBMCs were obtained from 9 non-diabetic obese patients and 11 healthy subjects expressing the HLA-A0201 molecule. The ELISPOT assay used to monitor the presence of IFN-γ producing CD8+ T-cells against a HLA class I-restricted epitope derived from Adipophilin (ADPH 129-137) and two control peptides: Flu MP58-66 and Melan-A27-35.

Results: The outcomes showed no significant difference between patient group and healthy donors in response to ADPH 129-137.

Conclusion: These results demonstrated that ADPH 129-137 peptide possibly does not act as an autoantigen in patients with obesity.