Acta Endocrinologica-Bucharest最新文献_第7页

VARIATIONS IN MONOGENIC DIABETES AND DIABETES SUSCEPTIBILITY GENES IN PEDIATRIC CASES: SINGLE CENTER EXPERIENCE. 儿科病例中单基因糖尿病和糖尿病易感基因的变异：单中心经验。

IF 0.7 4区医学

Acta Endocrinologica-Bucharest Pub Date : 2023-10-01 Epub Date: 2024-06-24 DOI: 10.4183/aeb.2023.512

I Arslanoğlu, R Eröz, F Yavuzyılmaz, M Doğan, S Bolu, S Karaca

{"title":"VARIATIONS IN MONOGENIC DIABETES AND DIABETES SUSCEPTIBILITY GENES IN PEDIATRIC CASES: SINGLE CENTER EXPERIENCE.","authors":"I Arslanoğlu, R Eröz, F Yavuzyılmaz, M Doğan, S Bolu, S Karaca","doi":"10.4183/aeb.2023.512","DOIUrl":"10.4183/aeb.2023.512","url":null,"abstract":"Context: Diabetes is a chronic disorder with a complex pathogenetic background including monogenic, polygenic, and environmental causes.Objective: The aim of the present paper is to share the information related to genetic and clinical data of large pediatric diabetes cohort.Design: The present study retrospectively analyzes genetic and clinical findings of subjects diagnosed with diabetes under the age of 18 year and are in follow-up in a pediatric diabetes referral center.Subjects and methods: Out of 1205 children with diabetes (902 treated with insulin) 246 underwent genetic tests on the basis of clinical selection criteria since 2007.Results: One hundred and ten variants related to diabetes were found in 89 of them. Age at presentation was 9.5±4.02 years (F/M 44/45). In total 49 pathogenic and likely pathogenic, 11 \"hot and warm\" of unknown significance variants were found in fourteen MODY and fifteen non-MODY genes according to criteria developed by American College of Medical Genetics. Thirty novel mutations were found. GCK (26.6%) and ABCC8 (10%) were two most frequently affected genes. Antibody testing revealed negative results in 80% of cases.Conclusions: Genetic interpretation in selected cases is important to understand the nature of the disease better. Improvement in testing opportunity and awareness might increase the prevalence of genetically explained diabetes cases. The distribution of subtypes differs between countries and even regions of the same country.","PeriodicalId":50902,"journal":{"name":"Acta Endocrinologica-Bucharest","volume":"19 4","pages":"512-522"},"PeriodicalIF":0.7,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11197833/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141460534","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A COMPREHENSIVE EVALUATION OF HEMOGRAM-DERIVED INFLAMMATORY INDICES IN HASHIMOTO THYROIDITIS AND NON-IMMUNOGENIC HYPOTHYROIDISM. 全面评估桥本氏甲状腺炎和非免疫性甲状腺功能减退症的血细胞衍生炎症指数。

IF 0.7 4区医学

Acta Endocrinologica-Bucharest Pub Date : 2023-10-01 Epub Date: 2024-06-24 DOI: 10.4183/aeb.2023.435

O Erinc, S Yesilyurt, A Senat

{"title":"A COMPREHENSIVE EVALUATION OF HEMOGRAM-DERIVED INFLAMMATORY INDICES IN HASHIMOTO THYROIDITIS AND NON-IMMUNOGENIC HYPOTHYROIDISM.","authors":"O Erinc, S Yesilyurt, A Senat","doi":"10.4183/aeb.2023.435","DOIUrl":"10.4183/aeb.2023.435","url":null,"abstract":"Objectives: The objective of this study was to evaluate the Systemic Inflammation Index (SII), Platelet to Lymphocyte Ratio (PLR), and Neutrophil to Lymphocyte Ratio (NLR) in HT and NIH, as well as their diagnostic value to predict the presence of inflammation.Subjects and methods: The study included 505 patients, including 190 healthy controls, 166 euthyroid Hashimoto's thyroiditis (HT), 91 hypothyroid HT, and 58 non- immunogenic hypothyroidism (NIH) patients. The records of the patients in each group were reviewed retrospectively.Results: In terms of SII, there was a significant difference between the control and patient groups (p<0.001). PLR and NLR values were also found to be significantly higher in the patient group (p<0.001 and p=0.007, respectively). When euthyroid HT, hypothyroid HT, and NIH subgroups were compared to the control group, there was a significant difference in SII, PLR (for all p<0.001), but not in NLR (p=0.059). SII, PLR, and NLR were not different between the subgroups (p=0.595, p=0.861, and p=0.777, respectively).Conclusions: It was found that the PLR, NLR, and SII indices were higher in Hashimoto's thyroiditis and non-immunogenic hypothyroidism. Of these indices, SII was the most powerful marker to predict the presence of inflammation.","PeriodicalId":50902,"journal":{"name":"Acta Endocrinologica-Bucharest","volume":"19 4","pages":"435-440"},"PeriodicalIF":0.7,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11197836/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141461538","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

THE EFFECT OF PARICALCITOL AND CALCITRIOL WITH OR WITHOUT CALCIMIMETICS ON PULSE WAVE VELOCITY AND SERUM LEVELS FOR PARATHYROID HORMONE, CALCIUM AND PHOSPHORUS IN MAINTENANCE HEMODIALYSIS PATIENTS. 服用或不服用降钙素类药物的帕立骨化醇和降钙素三醇对维持性血液透析患者的脉搏波速度以及甲状旁腺激素、钙和磷血清水平的影响。

IF 0.7 4区医学

Acta Endocrinologica-Bucharest Pub Date : 2023-10-01 Epub Date: 2024-06-24 DOI: 10.4183/aeb.2023.480

A Z Bal, U Bal, M Akdogan, S Sezer

{"title":"THE EFFECT OF PARICALCITOL AND CALCITRIOL WITH OR WITHOUT CALCIMIMETICS ON PULSE WAVE VELOCITY AND SERUM LEVELS FOR PARATHYROID HORMONE, CALCIUM AND PHOSPHORUS IN MAINTENANCE HEMODIALYSIS PATIENTS.","authors":"A Z Bal, U Bal, M Akdogan, S Sezer","doi":"10.4183/aeb.2023.480","DOIUrl":"10.4183/aeb.2023.480","url":null,"abstract":"Context: Different vitamin D analogs might have advantages over calcitriol.Objective: To evaluate the effects of paricalcitol vs. calcitriol based vitamin D receptor activators on calcium-phosphate metabolism and pulse wave velocity in hemodialysis patients.Design: Observational, cross-sectional and 1 year follow-up study.Subjects and methods: 181 hemodialysis patients were enrolled in this study as divided in to 5 groups based on vitamin D therapy. Baseline and 12th month data on blood biochemistry, pulse wave velocity and cumulative dose of treatments were compared in each study group as well as in overall paricalcitol vs. calcitriol-based treatment groups.Results: From baseline to 12th month, significant improvement in pulse wave velocity and parathyroid hormone was shown in paricalcitol-based treatment group without a significant change in calcium, phosphate, alkaline phosphatase. A significant increase in pulse wave velocity, serum phosphate levels, calcium x phosphate product and serum alkaline phosphatase levels were noted in calcitriol-based treatment group with no significant change in serum calcium and parathyroid hormone levels.Conclusion: Our findings revealed superiority of paricalcitol than calcitriol based vitamin D receptor activator therapy in terms of serum phosphate levels, CaxP product, dose requirement for vitamin D and the control of pulse wave velocity.","PeriodicalId":50902,"journal":{"name":"Acta Endocrinologica-Bucharest","volume":"19 4","pages":"480-486"},"PeriodicalIF":0.7,"publicationDate":"2023-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11197837/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141461548","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

EFFECTS OF DEPRESSION, ANXIETY, OR LOW SELF-ESTEEM UPON GLYCEMIC VARIABILITY, IN DIABETIC PREGNANT VERSUS NON-PREGNANT PATIENTS. 糖尿病孕妇与非孕妇相比，抑郁、焦虑或自卑对血糖变化的影响。

IF 1 4区医学

Acta Endocrinologica-Bucharest Pub Date : 2023-07-01 Epub Date: 2024-02-01 DOI: 10.4183/aeb.2023.307

G M Bănariu, I Tica, M Rus, S Onuc, G Neagoe, V I Tica

{"title":"EFFECTS OF DEPRESSION, ANXIETY, OR LOW SELF-ESTEEM UPON GLYCEMIC VARIABILITY, IN DIABETIC PREGNANT VERSUS NON-PREGNANT PATIENTS.","authors":"G M Bănariu, I Tica, M Rus, S Onuc, G Neagoe, V I Tica","doi":"10.4183/aeb.2023.307","DOIUrl":"10.4183/aeb.2023.307","url":null,"abstract":"Objective: We analyzed the correlation between glycemic variability and psychological problems such as depression, anxiety disorder, and low self-esteem in pregnant and non-pregnant (excluding gestational diabetes) patients with diabetes. Besides its originality, this study might contribute to better / earlier diagnosis of these psychological conditions, with a special interest in pregnant diabetic women. Better management and cost reduction of care could be a consequence.Methods: We compared diabetic pregnant and non-pregnant women from the perspective of the glycemic variability (for a period of 15 days prior inclusion in the study) and their results on the standardized questionnaires: Beck depression inventory, Hamilton anxiety scale - HRSA, Rosenberg self-esteem test.Results and conclusions: A statistically significant correlation was identified in both groups between the glycemic oscillation and depression, anxiety, and low self-esteem. Diabetic pregnant women had a higher statistical significance for the correlation between the glycemic oscillation and depression, as well as between the glycemic oscillation and anxiety than non-pregnant diabetic patients. The present data justify further research. Our results could be developed into a preliminary intervention protocol, using the daily glycemic values measurements, collected by patients.","PeriodicalId":50902,"journal":{"name":"Acta Endocrinologica-Bucharest","volume":"19 3","pages":"307-313"},"PeriodicalIF":1.0,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10863967/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139736674","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

EVALUATION OF THE ASSOCIATION OF PLASMA PENTRAXIN-3 LEVELS WITH CAROTID INTIMA-MEDIA THICKNESS AND HIGH-SENSITIVE CRP IN PATIENTS WITH SUBCLINICAL HYPOTHYROIDISM. 评估亚临床甲状腺功能减退症患者血浆五肽-3 水平与颈动脉内膜中层厚度和高敏 CRP 的关联。

IF 1 4区医学

Acta Endocrinologica-Bucharest Pub Date : 2023-07-01 Epub Date: 2024-02-01 DOI: 10.4183/aeb.2023.286

A Koç, I Guney, M C Kızılarslanoglu, G Gonulalan, C D Deniz, F Saçkan, F Ergül, M Sözen

{"title":"EVALUATION OF THE ASSOCIATION OF PLASMA PENTRAXIN-3 LEVELS WITH CAROTID INTIMA-MEDIA THICKNESS AND HIGH-SENSITIVE CRP IN PATIENTS WITH SUBCLINICAL HYPOTHYROIDISM.","authors":"A Koç, I Guney, M C Kızılarslanoglu, G Gonulalan, C D Deniz, F Saçkan, F Ergül, M Sözen","doi":"10.4183/aeb.2023.286","DOIUrl":"10.4183/aeb.2023.286","url":null,"abstract":"Context: Inflammation-related markers may predict cardiovascular diseases.Objective: In this study, it was aimed to assess pentraxin-3 (PTX-3) levels and its relationship with carotid intima-media thickness (CIMT) and high-sensitive C-reactive protein (hsCRP) in patients with subclinical hypothyroidism.Design: Prospective cross-sectional study.Methods: This study included 60 patients (aged 30-60 years) with subclinical hypothyroidism and 30 healthy volunteers as controls. The demographic characteristics and anthropometric measurements were performed in all patients and controls. In addition, sonographic carotid artery examination, thyroid functional tests, lipid profile, hsCRP, and PTX-3 levels of the participants were investigated.Results: The PTX-3, hsCRP levels and CIMT were higher in patients with subclinical hypothyroidism when compared to controls (p=0.008, p=0.001, p<0.001, respectively). The PTX-3 level was strongly correlated with hsCRP (r=0.865; p<0.001), but no such correlation was detected with CIMT (r=-0.255; p=0.50). In binominal logistic regression analysis, it was found that CIMT and serum uric acid levels were independent parameters associated with subclinical hypothyroidism. In ROC analysis, a cut-off value of >3.75 ng/mL for serum PTX-3 level predicted subclinical hypothyroidism with a sensitivity of 60% and specificity of 60.7% (AUC: 0.672, p=0.004).Conclusion: Showing inflammation and endothelial dysfunction, the PTX-3 may be a helpful marker in patients with subclinical hypothyroidism associated with increased risk for cardiovascular disease.","PeriodicalId":50902,"journal":{"name":"Acta Endocrinologica-Bucharest","volume":"19 3","pages":"286-291"},"PeriodicalIF":1.0,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10863954/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139736676","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

SUBACUTE THYROIDITIS FOLLOWING SARS-COV-2 VACCINATION: AN AUTOIMMUNE/INFLAMMATORY SYNDROME INDUCED BY ADJUVANTS (ASIA SYNDROME). 接种 SARS-COV-2 疫苗后的亚急性甲状腺炎：佐剂诱发的自身免疫/炎症综合征（亚洲综合征）。

IF 1 4区医学

Acta Endocrinologica-Bucharest Pub Date : 2023-07-01 Epub Date: 2024-02-01 DOI: 10.4183/aeb.2023.390

S Ciftel, Z Tüzün

{"title":"SUBACUTE THYROIDITIS FOLLOWING SARS-COV-2 VACCINATION: AN AUTOIMMUNE/INFLAMMATORY SYNDROME INDUCED BY ADJUVANTS (ASIA SYNDROME).","authors":"S Ciftel, Z Tüzün","doi":"10.4183/aeb.2023.390","DOIUrl":"10.4183/aeb.2023.390","url":null,"abstract":"Context: Subacute thyroiditis, a manifestation of Autoimmune/inflammatory syndrome induced by adjuvants that may develop after vaccination.Objective: The aim of this study is to determine the importance of vaccination against COVID-19 in the etiology of subacute thyroiditis.Design: This case reports/series is an observational, descriptive research design.Subjects and methods: Five of the thirty patients who applied to our clinic with subacute thyroiditis in the last 6 months had a history of inactivated and mRNA vaccines in the last four weeks, after exclusion of infection and comorbidities. We present three cases of mRNA-based vaccination and two cases of inactive SARS-CoV-2 vaccination that met ASIA criteria.Results: Our findings suggest that subacute thyroiditis may be a complication of vaccination against COVID-19.Conclusion: Vaccine administration may led to autoimmune manifestation induction as well as autoantibody production. Adjuvant-induced autoimmune/inflammatory syndrome, an abnormal autoimmune response as a result of exposure to an adjuvant such as vaccine, appears likely in our cases.","PeriodicalId":50902,"journal":{"name":"Acta Endocrinologica-Bucharest","volume":"19 3","pages":"390-395"},"PeriodicalIF":1.0,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10863968/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139737085","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

OVEREXPRESSION OF PTEN GENE INCREASES INS2 GENE MRNA EXPRESSION, NOT INS1 GENE MRNA EXPRESSION, IN INSULINOMA CELL LINE RIN-5F. 在胰岛素瘤细胞系 rin-5f 中，过表达 pten 基因会增加 ins2 基因 mrna 的表达，而不会增加 ins1 基因 mrna 的表达。

IF 1 4区医学

Acta Endocrinologica-Bucharest Pub Date : 2023-07-01 Epub Date: 2024-02-01 DOI: 10.4183/aeb.2023.277

T Kiba

{"title":"OVEREXPRESSION OF PTEN GENE INCREASES INS2 GENE MRNA EXPRESSION, NOT INS1 GENE MRNA EXPRESSION, IN INSULINOMA CELL LINE RIN-5F.","authors":"T Kiba","doi":"10.4183/aeb.2023.277","DOIUrl":"10.4183/aeb.2023.277","url":null,"abstract":"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.","PeriodicalId":50902,"journal":{"name":"Acta Endocrinologica-Bucharest","volume":"19 3","pages":"277-280"},"PeriodicalIF":1.0,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10863969/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139736679","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

THYROID DYSFUNCTION CAUSED BY MATERNAL AUTOIMMUNE THYROIDITIS: TWO DIFFERENT CLINICAL PICTURES IN TWO SIBLINGS. 由母体自身免疫性甲状腺炎引起的甲状腺功能障碍：两个兄弟姐妹的两种不同临床表现。

IF 1 4区医学

Acta Endocrinologica-Bucharest Pub Date : 2023-07-01 Epub Date: 2024-02-01 DOI: 10.4183/aeb.2023.386

G Can Yilmaz, A Anik

{"title":"THYROID DYSFUNCTION CAUSED BY MATERNAL AUTOIMMUNE THYROIDITIS: TWO DIFFERENT CLINICAL PICTURES IN TWO SIBLINGS.","authors":"G Can Yilmaz, A Anik","doi":"10.4183/aeb.2023.386","DOIUrl":"10.4183/aeb.2023.386","url":null,"abstract":"Objectives: Maternal antibodies in cases of chronic autoimmune thyroiditis may be transferred to the baby via the transplacental route, leading to transient hyperthyroidism or hypothyroidism. The development of hyperthyroidism in one sibling and hypothyroidism in the other, however, is an extremely rare condition. We present two siblings, one with transient neonatal hyperthyroidism and the other with transient neonatal hypothyroidism, born to a euthyroid mother who was being treated for Hashimoto's thyroiditis.Case presentation: Case 1: A term male baby was evaluated due to tachycardia, high fT4 and low TSH. Following a diagnosis of Neonatal thyrotoxicosis, the patient was started on methimazole and propranolol treatments. The doses were gradually reduced and methimazole was stopped in the 5th month of treatment. Case 2: A male baby was referred with elevated TSH identified in the neonatal screening program, with TSH >100 mIU/L and fT4 7.5 pmol/l (N: 12-22) found in a venous blood sample. The patient was started on 50 µg/day LT4, which was gradually decreased and stopped when the baby was 5.5 months old.Conclusion: It should be kept in mind that antibodies may change character in mothers with autoimmune thyroiditis, and may cause different clinical pictures in babies in different pregnancies.","PeriodicalId":50902,"journal":{"name":"Acta Endocrinologica-Bucharest","volume":"19 3","pages":"386-389"},"PeriodicalIF":1.0,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10863955/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139736599","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

ACTUALITIES IN THE MANAGEMENT OF SECONDARY HYPERPARATHYROIDISM DUE TO CHRONIC KIDNEY DISEASE IN CHILDREN. 治疗儿童慢性肾病引起的继发性甲状旁腺功能亢进症的现实情况。

IF 1 4区医学

Acta Endocrinologica-Bucharest Pub Date : 2023-07-01 Epub Date: 2024-02-01 DOI: 10.4183/aeb.2023.403

M Gafencu, R M Steflea

引用次数: 0

PUBERTAL VIRILIZATION IN AN ADOLESCENT WITH 46, XY DISORDER OF SEXUAL DEVELOPMENT: A NOVEL MUTATION IN NR5A1 GENE. 46, xy 性发育障碍青少年的青春期男性化：NR5A1基因的新型突变。

IF 1 4区医学

Acta Endocrinologica-Bucharest Pub Date : 2023-07-01 Epub Date: 2024-02-01 DOI: 10.4183/aeb.2023.364

S Güneş, R D Sevim, Z M Yiğit, N Çulhacı, T Ünüvar, A Anık

{"title":"PUBERTAL VIRILIZATION IN AN ADOLESCENT WITH 46, XY DISORDER OF SEXUAL DEVELOPMENT: A NOVEL MUTATION IN NR5A1 GENE.","authors":"S Güneş, R D Sevim, Z M Yiğit, N Çulhacı, T Ünüvar, A Anık","doi":"10.4183/aeb.2023.364","DOIUrl":"10.4183/aeb.2023.364","url":null,"abstract":"Background: NR5A1 [Steroidogenic factor 1 (SF1)] is a nuclear receptor that is essential for the development of gonads and adrenal glands as well as the establishment of steroidogenesis in these organs. The clinical findings of the mutations of NR5A1 gene in 46, XY individuals are variable. Virilization at puberty can be seen in some of the 46, XY children who have a female phenotype and are raised as female.A girl aged 13 years and 10 months old was brought by the family for deepening of her voice. On physical examination, her breast development was Tanner stage 2, axillary hair (+) and pubic hair was Tanner stage 4. She had labioscrotal fusion and 4.4 cm phallus (External Masculinisation Score was 6). Hypergonadotropic hypogonadism, low AMH and high testosterone levels were detected in laboratory tests. Uterus was not visualized in pelvic ultrasonography. Karyotype analysis was reported as 46, XY. Sequence analysis of the NR5A1 gene revealed a novel heterozygote c.1075_1089del (p.Leu359_Leu363del) variant. The patient was raised as a female and oestrogen replacement was started following gonadectomy.Conclusion: It should be kept in mind that virilization may develop at puberty in individuals with 46, XY disorder of sexual development due to NR5A1 mutation.","PeriodicalId":50902,"journal":{"name":"Acta Endocrinologica-Bucharest","volume":"19 3","pages":"364-369"},"PeriodicalIF":1.0,"publicationDate":"2023-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10863962/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139737099","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0