Yagmur Busra Unlusoy, Oguzhan Sıtkı Dizdar, Ali İhsan Gunal
{"title":"Effect of SGLT2 inhibitors on thiazolidinedione-induced changes in the volume status of patients with type 2 diabetes mellitus: a 6-month follow-up prospective study.","authors":"Yagmur Busra Unlusoy, Oguzhan Sıtkı Dizdar, Ali İhsan Gunal","doi":"10.20945/2359-4292-2024-0485","DOIUrl":"https://doi.org/10.20945/2359-4292-2024-0485","url":null,"abstract":"<p><strong>Objective: </strong>To ascertain the impact of combining sodium-glucose cotransporter 2 inhibitors (SGLT2is) with thiazolidinediones on fluid balance in patients with type 2 diabetes mellitus.</p><p><strong>Methods: </strong>This prospective study followed patients over a 6-month period, with data collected at three time points. The study commenced with the administration of pioglitazone on the same day. At the 3-month mark of the study, SGLT2is (dapagliflozin or empagliflozin) were subsequently integrated into the patients' treatment regimens. At each time point, bioimpedance spectroscopy was employed to the volume status of the patients, and an assessment of their glycemic, renal, and lipid parameters was conducted. Their fluid status was evaluated on the basis of the overhydration value and the relative hydration index.</p><p><strong>Results: </strong>The study sample consisted of 60 type 2 diabetes mellitus patients with a mean age of 52.5 years. While notable increases in the mean overhydration value and relative hydration index were observed during the initial 3-month period (p < 0.001), a significant decline was evident in the second 3-month period (p < 0.001). However, no significant change in the adipose tissue index, fat mass, or body cell mass was found at the 6-month follow-up. Significant improvements were achieved in liver function test results, glycemic parameters, and the lipid profile. Renal parameters did not change significantly during the 6-months of follow-up.</p><p><strong>Conclusion: </strong>SGLT2is have been shown to be effective in improving fluid retention associated with thiazolidinediones and in maintaining euvolemic fluid status.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 3","pages":"e240485"},"PeriodicalIF":1.6,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144700336","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Progeroid features in a patient with Malouf syndrome due to a rare LMNA variant: a case report and review of the literature.","authors":"Aslihan Pekmezci, Aydeniz Aydin Gumus, Ozge Polat Korkmaz","doi":"10.20945/2359-4292-2024-0491","DOIUrl":"https://doi.org/10.20945/2359-4292-2024-0491","url":null,"abstract":"<p><p>Laminopathiesrepresent a rare group of genetic disorders affecting various organs and tissues, including the skin, muscles, adipose tissue, bone, and cardiovascular system. The LMNA gene, the most common pathogenic gene responsible for laminopathies, harbors variants that can lead to diverse clinical phenotypes, such as progeroid syndromes, lipodystrophies, muscular dystrophies, and cardiomyopathies. This report presents a case of a young female patient who presented with prediabetes, secondary amenorrhea, and secondary osteoporosis. A 28-year-old female presented to our clinic with complaints of amenorrhea and decreased bone mineral density. She exhibited pronounced facial abnormalities and underdeveloped secondary sexual characteristics. Laboratory investigations revealed hypergonadotropic hypogonadism, prediabetes and hyperlipidemia. Significant mitral annular calcification was revealed via echocardiography. Genetic analysis revealed a de novo variant in exon 1 of the LMNA gene. This case reveals a novel laminopathy overlapping with the clinical features of Malouf syndrome while also exhibiting additional progeroid features, representing a distinct laminopathy. Furthermore, unlike previously reported cases with this genotype, it does not correspond to a progeroid syndrome typically associated with LMNA variants. Additionally, this case report is accompanied by a review of the relevant literature.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 3","pages":"e240491"},"PeriodicalIF":1.6,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144700337","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Low irisin levels are associated with increased body weight and an adverse metabolic profile.","authors":"Milene Moehlecke, Jakeline Rheinheimer, Daisy Crispim, Manoel Roberto Maciel Trindade, Cristiane Bauermann Leitão","doi":"10.20945/2359-4292-2024-0441","DOIUrl":"10.20945/2359-4292-2024-0441","url":null,"abstract":"<p><strong>Objective: </strong>To assess whether plasma irisin is associated with anthropometric, body composition, and metabolic parameters according to body mass index.</p><p><strong>Methods: </strong>A prospective cohort study was conducted at a tertiary referral hospital in Southern Brazil. Patients were divided according to body mass index: Group 1 (body mass index = 18.5 - 29.9 kg/m2; n = 15), Group 2 (body mass index = 30 - 39.9 kg/m2; n = 36), and Group 3 (body mass index ≥ 40 kg/m2; n = 30). Groups 1 and 2 underwent cholecystectomy, while Group 3 underwent Roux-en-Y gastric bypass. All groups were evaluated at baseline, and Groups 2 and 3 were re-evaluated 6 months later. Body composition was assessed using X-ray absorptiometry, and resting energy expenditure was measured by indirect calorimetry.</p><p><strong>Results: </strong>The study subjects were predominantly female (75%), white (82%), with a mean age of 46 ± 14 years. Group 3 had lower irisin levels compared to Group 2: 9.1 ± 2.2 versus 10.7 ± 2.8 ng/mL; p = 0.038). Irisin was negatively correlated with weight (r = -0.246; p = 0.042), waist circumference (r = -0.272; p = 0.024), glucose (r = -0.259; p = 0.039), glycated hemoglobin (r = -0.283; p = 0.024), triglycerides (r = -0.414; p = 0.024), and positively correlated with HDL (r = 0.280; p = 0.029).</p><p><strong>Conclusion: </strong>Irisin showed an inverse correlation with insulin-related metabolic pathways, suggesting its potential involvement in insulin resistance states such as obesity and type 2 diabetes.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 3","pages":"e240441"},"PeriodicalIF":1.6,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12247526/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144610330","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}
Annie Schtscherbyna, Débora Ayres Saraiva, Nathalie Silva de, Carolina Martins Corcino, Tatiana Martins Benvenuto Louro, Mario Vaisman, Paula Martins Horta, Patrícia de Fátima Dos
{"title":"Diet quality and its relationship with iodine status in pregnant women living in a Brazilian region where table salt is iodine-fortified according to public health policies.","authors":"Annie Schtscherbyna, Débora Ayres Saraiva, Nathalie Silva de, Carolina Martins Corcino, Tatiana Martins Benvenuto Louro, Mario Vaisman, Paula Martins Horta, Patrícia de Fátima Dos","doi":"10.20945/2359-4292-2024-0164","DOIUrl":"https://doi.org/10.20945/2359-4292-2024-0164","url":null,"abstract":"<p><strong>Objective: </strong>Conditions related to iodine status (IS) during pregnancy should be addressed to improve public health strategies. The aim of this study was to analyze the relationship between diet quality (DQ), assessed by the adapted Healthy Eating Index-2015 (HEI-2015), and IS in pregnant women from a Brazilian coastal state where public health policies assure iodine-fortified table salt in concentrations ranging from 15 to 45 mg/kg.</p><p><strong>Subjects and methods: </strong>In a cross-sectional study, 199 participants were evaluated on three different days during their first trimester of pregnancy. At every visit, a urinary spot sample was requested to assess the urinary iodine concentration (UIC), and a 24-hour dietary recall related to the time at which the urine was collected was also performed. Total and component scores were estimated for the HEI-2015. The association between DQ and the IS was evaluated, considering an adequate UIC (150-249 μg/L) as the reference group (RG).</p><p><strong>Results: </strong>The median total score for the HEI-2015 was 45.8 points, which was slightly better (48.1 points) in the insufficient UIC (UIC <150-249 μg/L) than in the RG (41.3 points). In the \"more than adequate\" and \"excessive\" IS groups, the scores were 40.7 and 44.6 points, respectively.</p><p><strong>Conclusion: </strong>Pregnant women with insufficient IS had better DQ and higher consumption of fruits and vegetables, as did those with lower intake of refined grains. We suppose that these groups benefit from iodine supplementation during pregnancy even when they live in a coastal state where table salt is fortified with iodine. In contrast, excessive UIC was related to worse intake of \"whole fruits\", \"total fruits\" and \"total vegetables\". The results suggest that diet quality is related to iodine status in the studied population. Pregnant women with better diet quality, especially those with high consumption of total protein foods, fruits and vegetables and low consumption of refined grains, may be at risk for iodine insufficiency. The necessity of iodine supplementation for pregnant women should be better explored even in regions where iodine-fortified table salt is adopted as a public health policy.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 3","pages":"e240164"},"PeriodicalIF":1.6,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144576960","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Li Zhang, Xufeng Gao, Meifang He, Wenyan Wang, Yuebin Zhao
{"title":"Higher C-reactive protein/albumin ratio is a potential marker for predicting amputation in patients with diabetic foot infection.","authors":"Li Zhang, Xufeng Gao, Meifang He, Wenyan Wang, Yuebin Zhao","doi":"10.20945/2359-4292-2024-0397","DOIUrl":"https://doi.org/10.20945/2359-4292-2024-0397","url":null,"abstract":"<p><strong>Objective: </strong>Non-traumatic amputation resulting from diabetic foot infection (DFI) poses significant clinical and public health concerns. The C-reactive protein (CRP)/albumin ratio represents a combination of the infection level and nutritional status. This study investigated the relationship between the CRP/albumin ratio and amputation in patients with diabetic foot infections.</p><p><strong>Subjects and methods: </strong>Patients with a DFI of Wagner grade. 3 diagnosed between January 2020 and September 2023 were retrospectively analyzed. The association between the CRP/albumin ratio and amputation was explored using multivariable logistic regression modeling. Stratified analyses were also performed to ensure the reliability of the findings.</p><p><strong>Results: </strong>Of 301 enrolled patients, 226 underwent amputation and 75 did not. The amputation rate increased with a greater CRP/albumin ratio in the non-adjusted, minimally adjusted, and fully adjusted models, regardless of whether the CRP/albumin ratio was regarded as a categorical or continuous variable.</p><p><strong>Conclusion: </strong>An increased CRP/albumin ratio was associated with a greater risk of amputation in individuals with DFI.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 3","pages":"e240397"},"PeriodicalIF":1.6,"publicationDate":"2025-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144576961","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Sara Moreira Anunciação, Renata de Oliveira Campos, Fabyan Esberard de Lima Beltrão, Déborah Araújo Morais, Wellington Sousa Tavares de, Fernando Barbosa, Jéssica Fernanda Cassemiro, Pedro Resende Ferreira Rende, Fabio Hecht, Helton Estrela Ramos
{"title":"Low urinary selenium concentration is associated with nonthyroidal illness syndrome in hospitalized patients with COVID-19.","authors":"Sara Moreira Anunciação, Renata de Oliveira Campos, Fabyan Esberard de Lima Beltrão, Déborah Araújo Morais, Wellington Sousa Tavares de, Fernando Barbosa, Jéssica Fernanda Cassemiro, Pedro Resende Ferreira Rende, Fabio Hecht, Helton Estrela Ramos","doi":"10.20945/2359-4292-2024-0113","DOIUrl":"10.20945/2359-4292-2024-0113","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to assess urinary selenium concentration (USC) and its correlation with non-thyroidal illness syndrome (NTIS) and inflammatory markers in hospitalized adult patients with COVID-19.</p><p><strong>Subjects and methods: </strong>A prospective study was conducted to investigate urinary selenium (Se) concentration in adult patients hospitalized with COVID-19 between June and August 2020. Urine and serum samples were collected before complications occurred, always within the first 48 hours after onset. A total of 121 patients were stratified into three tertiles based on USC: (i) USC < 25 μg/L (), (ii) USC 25-39 μg/L (), and (iii) USC > 39 μg/L (). ICP-MS was employed to measure urinary Se concentration. NTIS was defined by free triiodothyronine below 2.3 pg/L accompanied by low or normal thyroid-stimulating hormone levels.</p><p><strong>Results: </strong>NTIS was observed in a low prevalence (5.7%) and was significantly associated with patients having the lowest USC (n = 6, p = 0.008). Thyroiditis was the most prevalent thyroid complication (23.9%); however, there was no significant association with USC (p > 0.05).</p><p><strong>Conclusion: </strong>The association between low USC and NTIS was evident in this cohort.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 3","pages":"e240113"},"PeriodicalIF":1.6,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12176277/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144327748","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}
Rachel C Damasceno, Flávia R Oliveira, Ana Lúcia Cândido, Karina B Gomes, Mariana F Bizzi, Rosana C Azevedo, Fábio V Comim, Fernando M Reis, Ana Luiza Lunardi Rocha
{"title":"Dissociation of plasma oxyntomodulin levels from anthropometric measures and metabolic markers in women with polycystic ovary syndrome.","authors":"Rachel C Damasceno, Flávia R Oliveira, Ana Lúcia Cândido, Karina B Gomes, Mariana F Bizzi, Rosana C Azevedo, Fábio V Comim, Fernando M Reis, Ana Luiza Lunardi Rocha","doi":"10.20945/2359-4292-2024-0451","DOIUrl":"10.20945/2359-4292-2024-0451","url":null,"abstract":"<p><strong>Introduction: </strong>Oxyntomodulin (OXM) is a polypeptide hormone of the incretin family, which binds to the glucagon-like peptide 1 receptor, contributing to a reduction in caloric intake, an increase in energy expenditure, and weight loss in obese individuals. Polycystic ovary syndrome (PCOS) is a multifactorial condition characterized by reproductive and metabolic dysfunctions, with a high prevalence among overweight and obese women. This study aimed to investigate the correlation between clinical, anthropometric, endocrine, and metabolic variables and plasma OXM levels in women diagnosed with PCOS.</p><p><strong>Subjects and methods: </strong>This cross-sectional study included 20 women recently diagnosed with PCOS. Participants underwent screening that assessed body measurements, as well as serum/plasma lipids, fasting glucose, fasting insulin, irisin, and total testosterone levels. Plasma OXM concentrations were measured in duplicate using a commercial ELISA kit.</p><p><strong>Results: </strong>OXM levels were positively correlated with age (r = 0.493, p = 0.027); however, they showed no significant correlation with body mass index, waist circumference, lipid accumulation product index, visceral adiposity index, or hormones such as insulin, irisin, and testosterone. Furthermore, plasma OXM levels remained unchanged in a subgroup of patients treated with metformin for 60 days.</p><p><strong>Conclusion: </strong>These findings suggest that plasma OXM levels may not reflect body composition or insulin resistance in women with PCOS.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 3","pages":"e240451"},"PeriodicalIF":1.6,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12176276/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144327747","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}
Felipe Augusto Azevedo Leão, Leticia Ferreira Gontijo Silveira, Rodrigo Rezende Arantes, Milena Maria Moreira Guimarães
{"title":"Clinical features and genetic analysis of a Brazilian patient with sitosterolemia: a case report.","authors":"Felipe Augusto Azevedo Leão, Leticia Ferreira Gontijo Silveira, Rodrigo Rezende Arantes, Milena Maria Moreira Guimarães","doi":"10.20945/2359-4292-2024-0326","DOIUrl":"10.20945/2359-4292-2024-0326","url":null,"abstract":"<p><p>Sitosterolemia is a rare genetic lipid disorder caused by mutations in the ABCG5/ABCG8, genes. It is characterized by plasmatic plant sterols accumulation, formation of tendon and tuberous xanthomas and early onset coronary artery disease. The differential diagnosis with other congenital dyslipidemias presents significant challenges. We describe a case of a male patient who presented with hypercholesterolemia and tendinous xantomas from the age of 5. The patient was born to consanguineous parents, with no family history of hypercholesterolemia. With the initial hypothesis of cerebrotendinous xanthomatosis, he was treated with chenodeoxycholic acid, which yielded no improvement. Over time, he developed persistent thrombocytopenia and arthralgia, and experienced an acute myocardial infarction at the age of 27. Genetic analysis revealed the previously known p.Trp361*mutation in homozygosity in the ABCG8 gene and was negative for CYP27A1 variants, associated with cerebrotendinous xanthomatosis. The subsequent introduction of a diet with vegetable fats restriction and administration of ezetimibe resulted in an excellent response. The diagnosis of congenital hypercholesterolemia is challenging due to the low prevalence and heterogenous presentation of the condition. This case underscores the importance of clinical suspicion and the confirmation of the molecular diagnosis for a precise therapeutic management.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 3","pages":"e240326"},"PeriodicalIF":1.6,"publicationDate":"2025-06-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12176087/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144327746","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}
{"title":"Impact of the COVID-19 pandemic on the incidence of central precocious puberty: A PRISMA-ScR-COMPLIANT scoping review.","authors":"Amanda Veiga Cheuiche, Marcelo Garroni Teixeira, Candice Moro, Gustavo Guimarães, Liliane Salvador, Mauro Antônio Czepielewski, Leila Cristina Pedroso de, Sandra Pinho Silveiro","doi":"10.20945/2359-4292-2024-0300","DOIUrl":"10.20945/2359-4292-2024-0300","url":null,"abstract":"<p><p>Puberty is a biological maturation process that involves genetic, nutritional, environmental, ethnic, and lifestyle factors. During the coronavirus 2019 (COVID-19) pandemic, an increase in referrals for central precocious puberty (CPP) assessment was observed in clinical practice. The aim of this review was to evaluate the incidence of CPP in different countries before and during the COVID-19 pandemic. A PRISMA-ScR-compliant scoping review was performed in the MEDLINE and Embase databases using \"puberty\" and \"COVID-19\" as search terms. Exclusion criteria were an identifiable organic cause of CPP, genetic disorders or peripheral precocious puberty. The study was registered in OSF. A total of 26 studies with participants from 11 countries were included. Twenty-five studies found a 1.3- to 5-fold increase in the incidence of CPP in girls. In boys, 4 studies found no significant difference in the number of cases, 3 studies found a 2.8- to 3.4-fold increase, and 1 study detected a 75% decrease. Twelve studies reported an increase in the use of electronic devices, sedentary lifestyles, higher Z-scores for weight and body mass index, increased sleep disturbances, and a lower age at the onset of puberty. Seven studies found no significant differences in clinical and laboratory parameters between the pandemic and pre-pandemic periods. There was an increase in the incidence of precocious puberty among girls during the COVID-19 pandemic. This finding was not consistently observed in boys. Increased screen time, reduced physical activity, psychological stress, changes in diet and sleep habits, and the direct effects of SARS-CoV-2 may have caused these results.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 2","pages":"e240300"},"PeriodicalIF":1.6,"publicationDate":"2025-05-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12118089/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144175621","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}
Aline Guimarães Faria, Luciana R Montenegro, Alexander Augusto Lima Jorge, Regina Matsunaga Martin, Maria Candida Barisson Villares Fragoso, Flavia R Tinano, Carlos E Seraphim, Ana Pinheiro Machado Canton, Larissa G Gomes, Gabriel A Martos-Moreno, Irene Tarjuelo García, Atilano Carcavilla, Mireia Tirado-Capistros, Nadja Cristhina Souza-Pinto, Jesús Argente, Ana Claudia Latronico, Berenice Bilharinho Mendonca, Vinicius Nahime Brito
{"title":"Peripheral precocious puberty in girls with McCune-Albright syndrome: a case series.","authors":"Aline Guimarães Faria, Luciana R Montenegro, Alexander Augusto Lima Jorge, Regina Matsunaga Martin, Maria Candida Barisson Villares Fragoso, Flavia R Tinano, Carlos E Seraphim, Ana Pinheiro Machado Canton, Larissa G Gomes, Gabriel A Martos-Moreno, Irene Tarjuelo García, Atilano Carcavilla, Mireia Tirado-Capistros, Nadja Cristhina Souza-Pinto, Jesús Argente, Ana Claudia Latronico, Berenice Bilharinho Mendonca, Vinicius Nahime Brito","doi":"10.20945/2359-4292-2024-0459","DOIUrl":"10.20945/2359-4292-2024-0459","url":null,"abstract":"<p><strong>Objective: </strong>To describe the follow-up of girls with peripheral precocious puberty (PPP) due to McCune-Albright syndrome (MAS).</p><p><strong>Subjects and methods: </strong>Data from 18 females, including anthropometric and reproductive outcomes, were evaluated. Genetic analysis was performed on DNA from peripheral leukocytes via digital PCR.</p><p><strong>Results: </strong>Clinical manifestations of PPP were isolated thelarche, thelarche plus vaginal bleeding, or isolated vaginal bleeding in 44.5%, 33.3%, and 22.2%, respectively, at an early age (3.3 ± 1.6 years). At diagnosis, basal LH and FSH levels were suppressed in 100% and 72.2% of cases, respectively, and estradiol ranged from prepubertal to high levels. The mean bone age advancement was 2.3 ± 1.9 years. Treatment included medroxyprogesterone acetate, tamoxifen, aromatase inhibitors, and ketoconazole, individually or in combination for 5 ± 2.14 years, with partial or complete control of puberty. Secondary central precocious puberty was diagnosed in 57.1% (8/14) of the patients. Fibrous dysplasia was diagnosed in 11 patients and managed with bisphosphonates for those with bone pain. The mean adult height was 155.1 ± 8.7 cm (-1.17 SDS) in 10 patients. Menarche occurred at a mean age of 12.2 ± 1.04 years, 70% reported regular menstrual cycles and only one female desired pregnancy. Genetic diagnosis was established in 52.9% (9/17) of the patients.</p><p><strong>Conclusion: </strong>Medical treatment of PPP was effective in girls with MAS and led to preservation of adult height potential, and reproductive function was normal when patients reached adulthood.</p>","PeriodicalId":54303,"journal":{"name":"Archives of Endocrinology Metabolism","volume":"69 2","pages":"e240459"},"PeriodicalIF":1.6,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12077304/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144051724","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}