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1.
Drug Healthc Patient Saf ; 16: 35-42, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38616817

RESUMO

Cushing's disease (CD) is the most common cause of endogenous hypercortisolism. Osilodrostat was demonstrated to be efficient in treating CD, and the mean average dose required for CD control was <11 mg/day. Potential differences in osilodrostat treatment between cortisol-producing adenoma (CPA) and CD have not been reported. The aim of this study was to present two patients with CPA in whom significant differences in the response to therapy compared to CD were found. We demonstrated a case of inverse response of cortisol levels with adrenal tumor progression during the initial dose escalation (Case 1). Simultaneously, severe exaggeration of hypercortisolism symptoms and life-threatening hypokalemia occurred. A further rapid dose increase resulted in the first noticeable cortisol response at a dose of 20 mg/day, and a full response at a dose of 45 mg/day. We also present a case that was initially resistant to therapy (Case 2). The doses required to achieve the first response and the full response were the same as those for Case 1. Our study demonstrated that osilodrostat therapy in patients with CPA may require a different approach than that in CD, with higher doses, faster dose escalation, and a possible initial inverse response or lack of response.

2.
J Clin Med ; 13(6)2024 Mar 21.
Artigo em Inglês | MEDLINE | ID: mdl-38542041

RESUMO

Background: Tumour-induced osteomalacia (TIO) is a rare paraneoplastic syndrome. Detecting the primary tumour in TIO is challenging using conventional imaging methods. This study assesses the efficacy of [68Ga]Ga-DOTATATE PET/CT in identifying the primary tumour. Methods: Six patients with suspected TIO underwent [68Ga]Ga-DOTATATE PET/CT. The patients' clinical history and biochemical parameters were analysed. Results: [68Ga]Ga-DOTATATE PET/CT successfully identified primary tumours in four patients (femoral bones for two, iliac bone for one, subcutaneous tissue of pubic region for one). Tumour removal led to clinical and laboratory improvement. In one patient, PET/CT showed rib uptake, but the biopsy was negative. One patient showed no tumour lesions on PET/CT despite clinical evidence. Two patients had focal recurrence at the primary tumour site, detected by follow-up PET/CT. Conclusions: [68Ga]Ga-DOTATATE PET/CT is a valuable tool for detecting primary tumours in TIO, aiding in accurate diagnosis and guiding surgery, leading to improved outcomes. Further research is needed to validate these findings and explore [68Ga]Ga-DOTATATE PET/CT in other paraneoplastic syndromes.

3.
Front Endocrinol (Lausanne) ; 15: 1356612, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38529393

RESUMO

Introduction: Sirtuin 1 (SIRT1) is known to be involved in sensing cellular energy levels and regulating energy metabolism. This study aimed to evaluate fasting serum SIRT1 levels in healthy children, and to analyse the influence of age, sex, puberty, body weight, height, and diet on its concentration. Methods: 47 healthy children aged 4-14 with weight and height within normal range and no chronic disease were included into the study. Fasting serum SIRT1 concentrations were estimated by Enzyme Linked Immunosorbent Assay (ELISA). Results: Results showed that serum SIRT1 concentrations in healthy children did not differ with respect to sex, age, height, weight and puberty. Whereas, it appeared that a higher frequency of fruits, vegetables and dairy products consumption was associated with an increase in serum SIRT1 levels. Discussion: Studying SIRT1 in the context of children's health may have implications for a broader understanding of growth processes, pubertal development, metabolic disorders and nutrition.


Assuntos
Puberdade , Sirtuína 1 , Criança , Humanos , Índice de Massa Corporal , Peso Corporal , Jejum , Puberdade/fisiologia , Pré-Escolar , Adolescente
4.
Geroscience ; 2024 Mar 22.
Artigo em Inglês | MEDLINE | ID: mdl-38517641

RESUMO

Emerging research underscores the pivotal role of adipose tissue in regulating systemic aging processes, particularly when viewed through the lens of the endocrine hypotheses of aging. This study delves into the unique adipose characteristics in an important animal model of aging - the long-lived Ames dwarf (df/df) mice. Characterized by a Prop1df gene mutation, these mice exhibit a deficiency in growth hormone (GH), prolactin, and TSH, alongside extremely low circulating IGF-1 levels. Intriguingly, while surgical removal of visceral fat (VFR) enhances insulin sensitivity in normal mice, it paradoxically increases insulin resistance in Ames dwarfs. This suggests an altered profile of factors produced in visceral fat in the absence of GH, indicating a unique interplay between adipose tissue function and hormonal influences in these models. Our aim was to analyze the gene expression related to lipid and glucose metabolism, insulin pathways, inflammation, thermoregulation, mitochondrial biogenesis, and epigenetic regulation in the visceral (perirenal and epididymal) adipose tissue of Ames dwarf and normal mice. Our findings reveal an upregulation in the expression of key genes such as Lpl, Adrß3, Rstn, Foxo1, Foxo3a, Irs1, Cfd, Aldh2, Il6, Tnfα, Pgc1α, Ucp2, and Ezh2 in perirenal and Akt1, Foxo3a, PI3k, Ir, Acly, Il6, Ring1a, and Ring 1b in epididymal fat in df/df mice. These results suggest that the longevity phenotype in Ames dwarfs, which is determined by peripubertal GH/IGF-1 levels, may also involve epigenetic reprogramming of adipose tissue influenced by hormonal changes. The increased expression of genes involved in metabolic regulation, tumor suppression, mitochondrial biogenesis, and insulin pathways in Ames dwarf mice highlights potentially beneficial aspects of this model, opening new avenues for understanding the molecular underpinnings of longevity and aging.

5.
J Clin Med ; 13(2)2024 Jan 06.
Artigo em Inglês | MEDLINE | ID: mdl-38256458

RESUMO

BACKGROUND: Amiodarone-induced thyrotoxicosis (AIT) may pose treatment challenges. We present a series of patients in which we achieved the normalisation of free T3 (FT3) using intravenous methylprednisolone (ivMP) in AIT refractory to thiamazole and oral prednisone. Namely, in three males (aged 56, 50 and 64, all with a history of AF and/or a low ejection fraction), an addition of ivMP resulted in the normalisation of FT3, which allowed successful thyroidectomy. In another case of a 65-year-old man, we initially succeeded in the normalisation of FT3 using ivMP from FT4 > 7.77 ng/dL (0.93-1.7) to 2.41 ng/dL and in that of FT3 from 14.95 pg/mL (2-4.4) to 2.05 pg/mL), but four weeks after stopping ivMP, despite the continuation of thiamazole and prednisone, there was rebound thyrotoxicosis: FT4 > 7.77 ng/dL and FT3-5.46 pg/mL. Intravenous MP was restated leading to a decline in FT4 to 2.51 ng/dL and in FT3 to 1.92 pg/mL, thus allowing a successful thyroidectomy. Finally, in a 78-year-old man with AF, goitre, and AIT resistant to thiamazole, prednisone and lithium carbonate, we obtained a reduction in FT4 to 1.51 ng/dL and in FT3 to 3.17 pg/mL after seven pulses of ivMP. Oral prednisone was gradually reduced and successfully stopped about six months later. He remained on low-dose thiamazole (5 mg od). CONCLUSIONS: Pulse ivMP in addition to oral steroids may be a useful adjunct therapy either for the preparation of a thyroidectomy or as a treatment modality in drug-resistant AIT. Though a total cure is possible, there is a danger of a rebound worsening of thyrotoxicosis after premature discontinuation of ivMP.

6.
Pediatr Endocrinol Diabetes Metab ; 29(3): 175-183, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38031832

RESUMO

INTRODUCTION: Children born small for gestational age (SGA) are predisposed to obesity, insulin resistance (IR), and lipid disorders. The HOMA-IR index is commonly used to assess IR (IRIHOMA), calculated from fasting glucose and insulin. However, sometimes, during the oral glucose tolerance test (OGTT), elevated and prolonged postprandial insulin secretion is observed despite normal fasting insulin levels. IRIBelfiore is an IR index that analyses glucose and insulin levels during OGTT according to the method proposed by Belfiore. THE AIM OF THE STUDY: was to assess the frequency of IR based on IRIHOMA and IRIBelfiore results in SGA children aged 6-8 years, after catch-up phenomenon, to determine the usefulness of IRIBelfiore in diagnosis of IR and in predicting future metabolic complications. MATERIAL AND METHODS: In 129 SGA normal-height children, aged 6-8 years, height, weight, waist circumference, blood pressure, as well as lipids, IGF-1, cortisol, C-peptide, leptin, adiponectin, and resistin concentrations were measured. The glucose and insulin concentrations were evaluated at 0, 60, and 120 minutes of OGTT. RESULTS: IRIHOMA was normal in all children, while elevated IRIBelfiore was found in 22.5% of them. Children with IR diagnosed by IRIBelfiore were taller, had higher blood pressure, higher leptin, and lower HDL-cholesterol concentrations. CONCLUSIONS: It seems worth recommending IRIBelfiore derived from OGTT as a valuable diagnostic tool for identifying IR in SGA prepubertal children. Abnormal IRIBelfiore is related to higher blood pressure and lower HDL-cholesterol concentration in this group.


Assuntos
Resistência à Insulina , Criança , Humanos , Glicemia/metabolismo , Colesterol , Retardo do Crescimento Fetal , Idade Gestacional , Incidência , Insulina , Resistência à Insulina/fisiologia , Leptina
7.
Int J Mol Sci ; 24(20)2023 Oct 20.
Artigo em Inglês | MEDLINE | ID: mdl-37895086

RESUMO

The regulation of growth processes in children depends on the synthesis of growth hormone (GH) and insulin-like growth factor 1 (IGF-1). Insulin-like growth factor 1, which is mainly secreted in the liver in response to GH, is the main peripheral mediator of GH action. Newly discovered factors regulating GH secretion and its effects are being studied recently. One of them is sirtuin 1 (SIRT1). This NAD+-dependent deacetylase, by modulating the JAK2/STAT pathway, is involved in the transduction of the GH signal in hepatocytes, leading to the synthesis of IGF-1. In addition, it participates in the regulation of the synthesis of GHRH in the hypothalamus and GH in the somatotropic cells. SIRT1 is suggested to be involved in growth plate chondrogenesis and longitudinal bone growth as it has a positive effect on the epiphyseal growth plate. SIRT1 is also implicated in various cellular processes, including metabolism, cell cycle regulation, apoptosis, oxidative stress response, and DNA repair. Thus, its expression varies depending on the different metabolic states. During malnutrition, SIRT1 blocks GH signal transduction in hepatocytes to reduce the IGF-1 secretion and prevent hypoglycemia (i.e., it causes transient GH resistance). In this review, we focused on the influence of SIRT1 on GH signal transduction and the implications that may arise for growth processes in children.


Assuntos
Hormônio do Crescimento Humano , Fator de Crescimento Insulin-Like I , Criança , Humanos , Fator de Crescimento Insulin-Like I/metabolismo , Transdução de Sinais/fisiologia , Sirtuína 1/metabolismo
8.
Endokrynol Pol ; 74(5): 447-467, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37902011

RESUMO

Over the past few years, there have been significant advances in our understanding of hypoparathyroidism (HypoPT) in terms of its epidemiology, clinical presentation, etiology, and skeletal and renal complications. Moreover, the available treatment options for HypoPT have changed. This position statement of the Expert Group of the Polish Society of Endocrinology summarizes the current state of knowledge and provides recommendations for optimal management to assist clinicians in the diagnosis, treatment, and monitoring of HypoPT in Poland. The specific aspects of HypoPT management in children, pregnant and lactating women, and patients with chronic kidney disease are also discussed. HypoPT is a rare disorder characterized by hypocalcemia and the lack or deficiency of parathyroid hormone (PTH). Hypoparathyroidism can be associated with complications, including nephrocalcinosis, nephrolithiasis, renal insufficiency, cataract, seizures, cardiac arrhythmia, depression, and an increased risk of infection. Minimizing complications of HypoPT requires careful evaluation and close monitoring of laboratory parameters. Conventional management of HypoPT has focused on maintaining serum calcium levels using oral calcium and active vitamin D. However, this approach is limited because it does not restore normal PTH function, is often associated with inadequate biochemical control, and raises concerns as to long-term side effects. HypoPT is the only classic endocrine insufficiency that is not commonly treated with the substitution of the missing hormone. Recently, recombinant human PTH(1-84) has become available, offering hope that the use of the missing hormone in the treatment of HypoPT will help achieve better control and reduce the risk of complications. However, this treatment is currently unavailable in Poland.


Assuntos
Hipocalcemia , Hipoparatireoidismo , Criança , Humanos , Feminino , Cálcio/uso terapêutico , Polônia , Lactação , Hormônio Paratireóideo , Hipoparatireoidismo/diagnóstico , Hipoparatireoidismo/tratamento farmacológico
9.
Front Immunol ; 14: 1256922, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37841270

RESUMO

Introduction: Graves' disease (GD) and Graves' orbitopathy (GO) development were suspected to be HLA-related in both Asian and Caucasian populations. However, most studies were performed with application of serological methods or low resolution genetic typing, which led to inconsistent results even among the same population. The present review is intended to summarize the state-of-art knowledge on the HLA significance in GD and GO in Asians and Caucasians, as well as to find the most significant alleles for each of the populations. Methods: PubMed was searched for relevant articles using the following search terms: HLA plus thyroid-associated ophthalmopathy or Graves' disease or Graves' orbitopathy or thyroid eye disease or thyroid-associated orbitopathy. Results: In Asian population GD was found to be associated mostly with B*46:01, DPB1*05:01, DRB1*08:02/03, DRB1*16:02, DRB1*14:03, DRB1*04:05, DQB1*05:02 and DQB1*03:03, while DRB1*07:01, DRB1*01:01, DRB1*13:02, DRB1*12:02 are potentially protective. HLA-B*38:02, DRB1*16:02, DQA1*01:02, DQB1*05:02 can be considered associated with increased risk of GO in Asians, while HLA-B*54:01 may play protective role. In Caucasians, C*07:01, DQA1*05:01, DRB1*03, DQB1*02:01 are associated with GD risk while DRB1*07:01, DQA1*02:01 may be protective. Significance of HLA in the course of GD and novel aspects of HLA amino acid variants and potential HLA-based treatment modalities were also discussed.


Assuntos
Doença de Graves , Oftalmopatia de Graves , Humanos , Oftalmopatia de Graves/genética , Antígenos HLA-DQ/genética , Cadeias HLA-DRB1/genética , Haplótipos , Doença de Graves/genética , Antígenos HLA-B/genética
10.
Front Endocrinol (Lausanne) ; 14: 1149982, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37810882

RESUMO

Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue. It presents with a wide spectrum of skeletal and extraskeletal features, and ranges in severity from mild to perinatal lethal. The disease is characterized by a heterogeneous genetic background, where approximately 85%-90% of cases have dominantly inherited heterozygous pathogenic variants located in the COL1A1 and COL1A2 genes. This paper presents the results of the first nationwide study, performed on a large cohort of 197 Polish OI patients. Variants were identified using a next-generation sequencing (NGS) custom gene panel and multiplex ligation probe amplification (MLPA) assay. The following OI types were observed: 1 (42%), 2 (3%), 3 (35%), and 4 (20%). Collagen type I pathogenic variants were reported in 108 families. Alterations were observed in α1 and α2 in 70% and 30% of cases, respectively. The presented paper reports 97 distinct causative variants and expands the OI database with 38 novel pathogenic changes. It also enabled the identification of the first glycine-to-tryptophan substitution in the COL1A1 gene and brought new insights into the clinical severity associated with variants localized in "lethal regions". Our results contribute to a better understanding of the clinical and genetic aspects of OI.


Assuntos
Colágeno Tipo I , Osteogênese Imperfeita , Humanos , Colágeno Tipo I/genética , Osteogênese Imperfeita/genética , Polônia/epidemiologia , Cadeia alfa 1 do Colágeno Tipo I , Mutação , Sequenciamento de Nucleotídeos em Larga Escala
11.
J Clin Med ; 12(18)2023 Sep 14.
Artigo em Inglês | MEDLINE | ID: mdl-37762908

RESUMO

Cushing's disease (CD) is an extremely rare diagnosis in children. In this report, we present the case of an almost 16-year-old, short and thin boy with CD, the first symptoms of which were spinal pain and vertebral fractures as a result of osteoporosis. In light of his growth retardation and short stature, the boy underwent diagnostics, which excluded growth hormone (GH) deficiency, hypothyroidism and celiac disease. Finally, based on cortisol profile results, dexamethasone suppression tests and bilateral sampling during catheterization of the inferior petrosal sinuses, CD was diagnosed.

12.
Nutrients ; 15(16)2023 Aug 18.
Artigo em Inglês | MEDLINE | ID: mdl-37630820

RESUMO

The aim of the study was to investigate the effects of seasonal variability of insolation, the implementation of new recommendations for vitamin D supplementation (2018), and the SARS-CoV-2 pandemic lockdown (2020) on 25(OH)D concentrations in children from central Poland. The retrospective analysis of variability of 25(OH)D concentrations during the last 8 years was performed in a group of 1440 children with short stature, aged 3.0-18.0 years. Significant differences in 25(OH)D concentrations were found between the periods from mid-2014 to mid-2018, from mid-2018 to mid-2020, and from mid-2020 to mid-2022 (medians: 22.9, 26.0, and 29.9 ng/mL, respectively). Time series models created on the grounds of data from 6 years of the pre-pandemic period and used for prediction for the pandemic period explained over 80% of the seasonal variability of 25(OH)D concentrations, with overprediction for the first year of the pandemic and underprediction for the second year. A significant increase in 25(OH)D concentrations was observed both after the introduction of new vitamin D supplementation guidelines and during the SARS-CoV-2 pandemic; however, the scale of vitamin D deficiency and insufficiency was still too high. Time series models are useful in analyzing the impact of health policy interventions and pandemic restrictions on the seasonal variability of vitamin D concentrations.


Assuntos
COVID-19 , Vitamina D , Criança , Humanos , Pandemias , Polônia/epidemiologia , Estudos Retrospectivos , COVID-19/epidemiologia , SARS-CoV-2 , Controle de Doenças Transmissíveis , Vitaminas , Suplementos Nutricionais
14.
Int J Mol Sci ; 24(11)2023 May 30.
Artigo em Inglês | MEDLINE | ID: mdl-37298471

RESUMO

This review examines the existing knowledge about Ru(II)/(III) ion complexes with a potential application in medicine or pharmacy, which may offer greater potential in cancer chemotherapy than Pt(II) complexes, which are known to cause many side effects. Hence, much attention has been paid to research on cancer cell lines and clinical trials have been undertaken on ruthenium complexes. In addition to their antitumor activity, ruthenium complexes are under evaluation for other diseases, such as type 2 diabetes, Alzheimer's disease and HIV. Attempts are also being made to evaluate ruthenium complexes as potential photosensitizers with polypyridine ligands for use in cancer chemotherapy. The review also briefly examines theoretical approaches to studying the interactions of Ru(II)/Ru(III) complexes with biological receptors, which can facilitate the rational design of ruthenium-based drugs.


Assuntos
Antineoplásicos , Complexos de Coordenação , Diabetes Mellitus Tipo 2 , Farmácia , Rutênio , Humanos , Complexos de Coordenação/farmacologia , Rutênio/farmacologia , Preparações Farmacêuticas , Antineoplásicos/farmacologia
15.
Genes (Basel) ; 14(6)2023 05 31.
Artigo em Inglês | MEDLINE | ID: mdl-37372389

RESUMO

The risk of Graves' orbitopathy (GO) is related to the human leukocyte antigen (HLA) profile and was demonstrated to be increased in patients with elevated total cholesterol (TC) and/or low-density lipoprotein (LDL) cholesterol. We hypothesized that there were some HLA alleles that were related to both GO and TC and/or LDL levels. Therefore, the aim of the study was to compare the TC/LDL results in patients in whom GO-related HLA alleles were present to those in whom they did not occur. HLA classes were genotyped using a next-generation sequencing method in 118 patients with Graves' disease (GD), including 63 and 55 patients with and without GO, respectively. Lipid profiles were assessed at the time of the GD diagnosis. A significant correlation between the presence of GO high-risk alleles (HLA-B*37:01 and C*03:02) and higher TC/LDL levels was found. Additionally, the presence of alleles associated with non-GO GD (HLA-C*17:01 and B*08:01), as well as alleles in linkage disequilibrium with B*08:01 (i.e., HLA-DRB1*03:01 and DQB1*02:01), was correlated with lower TC levels. These results further confirm the significance of TC/LDL in the risk of GO development and provide evidence that associations between TC/LDL and GO can be HLA-dependent.


Assuntos
Doença de Graves , Oftalmopatia de Graves , Humanos , Oftalmopatia de Graves/genética , Oftalmopatia de Graves/diagnóstico , Cadeias HLA-DRB1 , Proteínas , Colesterol , Lipídeos/genética
16.
Front Immunol ; 14: 1107334, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37122698

RESUMO

Background: Mannan-binding lectin (MBL) is a main component of the lectin pathway of the complement system. Although there are some studies showing links between endocrine and immune systems, the ones concerning hypopituitarism are limited. The aim of this study was to check whether there is any association between blood MBL level and pituitary hormone deficiencies and whether this relationship is affected by appropriate hormone replacement therapies. Methods: One hundred and twenty (120) inpatients, aged 18-92, were divided into two main groups, i.e. control individuals (21/120) and patients with pituitary diseases (99/120). The latter were diagnosed either with hypopituitarism (n=42) or with other pituitary diseases (not causing hypopituitarism) (n=57). Additionally, hypopituitary patients on appropriate replacement therapies (compensated hypopituitarism) were compared to patients on inappropriate replacement therapies (non-compensated hypopituitarism). Several parameters in blood serum were measured, including MBL level, pituitary and peripheral hormones and different biochemical parameters. Results: Serum MBL level was significantly lower in patients with hypopituitarism comparing to controls (1358.97 ± 244.68 vs. 3199.30 ± 508.46, p<0.001) and comparing to other pituitary diseases (1358.97 ± 244.68 vs. 2388.12 ± 294.99, p=0.015) and this association was confirmed by univariate regression analysis. We evaluated the distribution of patients with relation to MBL level; there was a clear difference in this distribution between control individuals (among whom no subjects had MBL level <500 ng/mL) and patients with hypopituitarism (among whom 43% of patients had MBL level <500 ng/mL). Moreover, patients with non-compensated hypopituitarism had lower mean and median MBL levels comparing to patients with compensated hypopituitarism (1055.38 ± 245.73 vs. 2300.09 ± 579.93, p=0.027; 488.51 vs. 1951.89, p=0.009, respectively) and this association was confirmed in univariate regression analysis. However, mean and median MBL levels in patients with compensated hypopituitarism vs. controls did not differ significantly (2300.09 ± 579.93 vs. 3199.30 ± 508.46, p=0.294; 1951.90 vs. 2329.16; p=0.301, respectively). Conclusion: Hypopituitarism in adults is associated with a decreased blood concentration of mannan-binding lectin, a phenomenon which does not exist in hypopituitary patients on the appropriate hormone replacement therapies. Therefore measurement of mannan-binding lectin level in patients with hypopituitarism may be considered as a parameter contributing to adjust optimal doses of hormone replacement therapies.


Assuntos
Hipopituitarismo , Lectina de Ligação a Manose , Adulto , Humanos , Lectinas , Proteínas do Sistema Complemento , Hipopituitarismo/tratamento farmacológico , Terapia de Reposição Hormonal
17.
Front Genet ; 14: 1051042, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-37082196

RESUMO

Resistance to thyroid hormone (RTH) is a syndrome characterized by impaired responsiveness of target tissues to thyroid hormones. The relationship between RTHß and thyroid autoimmunity has been under research. In this study, we demonstrate a case report of a woman with a novel mutation in THRß gene coexisting with autoimmune thyroid disease (AITD). The 36-year-old woman has been treated since childhood for a thyroid disease. Based on high levels of thyroid hormones (THs) and elevated concentrations of thyroperoxidase and thyroglobulin antibodies (TPOAb and TgAb, respectively), she received unnecessary long-term treatment with methimazole and finally underwent subtotal thyroidectomy. After the surgery, her TSH level remained significantly elevated, despite the treatment with 150 + 15 µg of thyroxine and triiodothyronine. A sequence analysis of the THRß gene revealed a novel dinucleotide substitution affecting codon 453, resulting in the replacement of the normal proline with an asparagine (c.1357_1358delinsAA, p.(Pro453Asn)). The mutation has not been described in the literature yet; however, THRß codon 453 represents a mutational hot spot, frequently altered in the TH receptor ß gene. After establishing the diagnosis of RTH, the patient was treated with 300 µg of thyroxine, which showed clinical improvement and normalization of TSH. The coexistence of RTHß and AITD may additionally impede establishment of a proper diagnosis, leading to unnecessary therapy and delayed correct treatment. The presented case encourages a closer cooperation between clinical endocrinologists and geneticists.

18.
Nutrients ; 15(7)2023 Mar 24.
Artigo em Inglês | MEDLINE | ID: mdl-37049423

RESUMO

BACKGROUND: It has been speculated that higher concentrations of 25-hydroxy-vitamin D (25OHD) provide some protection against COVID-19. We assessed whether there is any relationship between 25OHD concentrations and the subsequent development of COVID-19 infection. MATERIALS AND METHODS: Concentrations of 25OHD were measured in March-April 2020 in 134 healthy subjects (57 males), age range 6-50, from a single urban general practice in central Poland. Data on COVID-19 infection during the subsequent 12 months (prior to the vaccination program) were obtained from the national database of COVID-19 cases. None of the subjects received any 25OHD supplements. RESULTS: The average 25OHD concentrations were 18.1 ± 7.39 ng/mL (37.3% had 25OHD above 20 ng/mL). Thirty-one (23.1%) patients developed COVID-19 infection, but an increased risk was only observed in individuals with 25OHD concentrations below 12 ng/mL (COVID-19 infection in 11 out of 25 patients (44%) with 25OHD < 12 ng/mL versus 20 out of 109 (18.3%) for those with 25OHD above 12 ng/mL, p = 0.0063). Such a relationship was no longer observed for subjects with 25OHD concentrations above 20 ng/mL (p = 0.2787). CONCLUSIONS: Although only a minority of healthy subjects had 25OHD concentrations above 20 ng/mL in spring, an increased risk of subsequent COVID-19 infection was only observed in those with severe 25OHD deficiency (<12 ng/mL).


Assuntos
COVID-19 , Deficiência de Vitamina D , Masculino , Humanos , Criança , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Deficiência de Vitamina D/epidemiologia , COVID-19/epidemiologia , Vitamina D , Vitaminas , Suplementos Nutricionais
19.
Exp Clin Endocrinol Diabetes ; 131(4): 222-227, 2023 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-36807213

RESUMO

INTRODUCTION: We aimed to assess renin, aldosterone, and cortisol in the early stages of pregnancy-induced hypertension (PIH), i. e., at the time of diagnosis. METHODS: During the postural test, we measured aldosterone, renin [Liason DiaSorin Inc. (Italy)], as well as cortisol, sodium, potassium, and 24-h urinary sodium and potassium excretion in 62 women with newly diagnosed PIH, 70 healthy women during the 3rd trimester of pregnancy, and in 22 healthy non-pregnant women. RESULTS: In all groups, there was a significant increase in aldosterone and renin in upright versus supine posture (p<0.01). Both supine and upright aldosterone concentrations were higher in healthy pregnant women than in women with PIH and the lowest in healthy not-pregnant [supine (median±intequartile range): 25.04±18.4 ng/dL, 18.03±12.58 ng/dL, and 7.48±4.78 ng/dL, p<0.001, upright: 31.60±21.32 ng/dL, 25.11±13.15 ng/dL, and 12.4±12.4 ng/dL, p<0.001, for healthy pregnant, pregnant with PIH, and non-pregnant, respectively]. Supine renin concentrations were higher only in healthy pregnant (p<0.001), while in the upright position, there was a difference only between healthy pregnant and women with PIH (p=0.002). Both in supine and upright positions, there was no difference in the aldosterone-to-renin ratio between healthy pregnant women and women with PIH, though, in both groups, the ratio was higher than in non-pregnant women (p<0.001). Morning cortisol concentrations and 24-h urinary sodium excretion were lower in women with PIH than in healthy pregnant (p<0.001, p=0.002, respectively). CONCLUSION: Hyperaldosteronism is not involved in the etiology of PIH. In PIH, there is also a tendency towards lower sodium excretion and lower morning cortisol concentrations.


Assuntos
Hipertensão Induzida pela Gravidez , Hipertensão , Humanos , Feminino , Gravidez , Renina , Aldosterona , Hidrocortisona , Sódio , Potássio , Hipertensão/etiologia
20.
Endokrynol Pol ; 74(1): 1-4, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-36847719

RESUMO

Medical practice involves a high number of radiological examinations using iodinated contrast media (ICM). Therefore, it is crucial for doctors of different specialties to be aware of possible adverse effects associated with ICM use. The most common and well characterized adverse effect is contrast-induced nephropathy, whereas thyroidal adverse reactions remain a diagnostic and therapeutic dilemma. ICM-induced thyroid dysfunction represents a highly heterogenous group of thyroid disorders. Due to supraphysiological iodine concentration, ICM can induce both hyper- and hypothyroidism. In most cases, the ICM-induced thyroid dysfunction is oligo- or asymptomatic, mild, and transient. In rare cases, however, the ICM-induced thyroid dysfunction may be severe and life threatening. Recently, the European Thyroid Association (ETA) Guidelines for the Management of Iodine-Based Contrast Media-Induced Thyroid Dysfunction were published. The authors advise an individualized approach to prevention and treatment of ICM-induced thyroid dysfunction, based on patient's age, clinical symptoms, pre-existing thyroid diseases, coexisting morbidities, and iodine intake. There is a geographic variation of ICM-induced thyroid dysfunction prevalence, which is linked to iodine intake. The prevalence of ICM-induced hyperthyroidism, which may pose a serious therapeutic challenge, is greater in countries with iodine deficiency. Poland is a region with a history of iodine deficiency, contributing to an increased prevalence of nodular thyroid disease, especially in the elderly. Therefore, the Polish Society of Endocrinology has proposed national, simplified principles of ICM-induced thyroid dysfunction prevention and treatment.


Assuntos
Iodo , Desnutrição , Doenças da Glândula Tireoide , Idoso , Humanos , Meios de Contraste/efeitos adversos , Iodo/efeitos adversos , Polônia , Doenças da Glândula Tireoide/induzido quimicamente , Doenças da Glândula Tireoide/prevenção & controle
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