{"title":"Genetic evidence links hyperthyroidism to knee osteoarthritis.","authors":"Tianli Xu, Limin Shen, Xiaojun Cao, Jincheng Song, Mengjie Tang, Chaoyan Yue","doi":"10.1007/s42000-025-00648-0","DOIUrl":"https://doi.org/10.1007/s42000-025-00648-0","url":null,"abstract":"<p><strong>Purpose: </strong>The causal relationship between hyperthyroidism and knee osteoarthritis (KOA) remains to date unknown. We aimed to examine the potential causal relationship between hyperthyroidism status and the risk of developing KOA via a bidirectional two-sample Mendelian randomization (MR) approach.</p><p><strong>Methods: </strong>Single-nucleotide polymorphism (SNP) data related to hyperthyroidism and KOA were obtained from a genome-wide association study (GWAS) in Europe. KOA was used as the outcome variable and hyperthyroidism was used as the exposure factor. The inverse-variance weighted (IVW) method served as the primary analytic tool and heterogeneity and pleiotropy were evaluated via sensitivity analysis.</p><p><strong>Results: </strong>The IVW method indicated that hyperthyroidism status has a causative influence on the risk of developing KOA [OR, 1.046; 95% confidence interval (CI), 1.013-1.080; P = 0.006]. No significant reverse causality was detected. Sensitivity analyses validated the robustness of these findings.</p><p><strong>Conclusions: </strong>Hyperthyroidism status can causally increase the risk of developing KOA. This result indicated that the risk of developing KOA may be decreased by controlling hyperthyroidism.</p>","PeriodicalId":50399,"journal":{"name":"Hormones-International Journal of Endocrinology and Metabolism","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143781564","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}
Szeliga Anna, Malcher Agnieszka, Niwczyk Olga, Olszewska Marta, Kurpisz Maciej, Meczekalski Blazej, Y Eli Adashi
{"title":"Turner syndrome: the promise of fertility via stem cell technology.","authors":"Szeliga Anna, Malcher Agnieszka, Niwczyk Olga, Olszewska Marta, Kurpisz Maciej, Meczekalski Blazej, Y Eli Adashi","doi":"10.1007/s42000-025-00647-1","DOIUrl":"https://doi.org/10.1007/s42000-025-00647-1","url":null,"abstract":"<p><p>Turner syndrome (TS) is the most common female sex chromosome disorder, occurring in one out of every 2500 to 3000 live female births. It is caused by the partial or complete loss of one X chromosome. TS is associated with certain physical and medical features, including short stature, estrogen deficiency, delayed puberty, hypothyroidism, and congenital heart defects. The majority of women with TS are infertile as a result of gonadal dysgenesis and primary ovarian insufficiency causing hypergonadotropic hypogonadism. Several reproductive options are available for TS patients. The recent use of stem cells (SCs) was found to constitute a promising new alternative in cases of infertility treatment in this group. SCs are undifferentiated cells that exist in embryos, fetuses, and adults and that produce differentiated cells. They can be used in infertility treatment for ovarian regeneration and oocyte generation. However, additional studies scrutinizing their efficiency and safety are needed. In our review, we present reproductive options that are currently available for women with TS.</p>","PeriodicalId":50399,"journal":{"name":"Hormones-International Journal of Endocrinology and Metabolism","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143765654","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}
Mikhail Khachaturov, Dimitrios G Goulis, Petros Perros
{"title":"Hashimoto's thyroiditis- What's in a name?","authors":"Mikhail Khachaturov, Dimitrios G Goulis, Petros Perros","doi":"10.1007/s42000-025-00646-2","DOIUrl":"https://doi.org/10.1007/s42000-025-00646-2","url":null,"abstract":"<p><p>Hashimoto's thyroiditis (HT) is the most common autoimmune endocrine disease worldwide with an annual incidence of 0.3-1.5 per 1000 people and a prevalence of 8% of the general population. At least nine terms appear in the literature denoting HT, which are used as synonyms or are terms describing disorders closely related to HT. Moreover, the definitions of HT vary, and the role of several parameters in making a diagnosis remains unclear. Furthermore, the term \"thyroiditis\" is often used among experts to describe the triphasic evolution in thyroid status (thyrotoxicosis, hypothyroidism, and euthyroidism) that can occur not only after some forms of HT but also in other causes of thyroid inflammation. The present work proposes novel approaches for the nomenclature problems. Firstly, we should abandon the eponym \"Hashimoto\" in keeping with recent trends. The void left can be replaced by the terms \"autoimmune thyroiditis\" or \"autoimmune thyroid disease\", which are already in use. In communicating among ourselves and with patients, it is imperative and good practice to provide, whenever possible, context to these terms by specifying whether they apply to thyroid status, presence or absence of goiter, thyroid autoantibodies, imaging, cytology/histology, epidemiology, or etiology. Secondly, the considerable potential harm associated with treating euthyroid people with thyroid hormones could be curtailed by avoiding testing for thyroid autoantibodies or performing thyroid imaging in asymptomatic euthyroid patients following the current guidelines and by discouraging the use of the word \"disease\" when the evidence is based only on results of investigations, such as positive antibodies, or imaging.</p>","PeriodicalId":50399,"journal":{"name":"Hormones-International Journal of Endocrinology and Metabolism","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143765652","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":"The relationship between the expression of ACE2 in peripheral blood and the prognosis of patients with adrenal adenoma and hypertension.","authors":"Junyong Li, Jian Li, Fei Chen, Yi Gao","doi":"10.1007/s42000-025-00642-6","DOIUrl":"https://doi.org/10.1007/s42000-025-00642-6","url":null,"abstract":"<p><strong>Objective: </strong>This study aimed to investigate the relationship between ACE2 expression in peripheral blood and the prognosis of patients with adrenal adenoma and hypertension.</p><p><strong>Methods: </strong>We recruited 80 patients with adrenal adenoma and hypertension (47 males, 33 females) treated between March 2021 and September 2022. Patients were divided into high ACE2 expression (n = 26) and low ACE2 expression (n = 54) groups. General patient data, blood pressure, serum potassium, creatinine, and hormone levels (cortisol, aldosterone, catecholamines) were compared. The frequency of hypertensive episodes with palpitations was recorded. Correlations between ACE2 expression and prognosis were analyzed using Pearson correlation and Cox regression models.</p><p><strong>Results: </strong>The ACE2 high expression group had significantly lower blood pressure, serum creatinine, and hormone levels (P < 0.001), but higher serum potassium (P < 0.001) compared to the low expression group. Over 3 months, the incidence of hypertensive episodes with palpitations was lower in the high expression group (7.69%) compared to the low expression group (24.07%) (P = 0.002). The frequency of episodes was also lower in the high expression group (P = 0.016). Pearson correlation analysis showed a negative correlation between ACE2 expression and poor prognosis (P < 0.001). Multivariate Cox regression confirmed low ACE2 expression as an independent risk factor for poor prognosis (P < 0.001).</p><p><strong>Conclusion: </strong>High ACE2 expression is associated with improved cardiovascular and renal function and lower incidence of hypertensive episodes in patients with adrenal adenoma and hypertension, suggesting a protective role of ACE2 in mitigating hypertension-related complications.</p><p><strong>Clinical trial number: </strong>Not applicable.</p>","PeriodicalId":50399,"journal":{"name":"Hormones-International Journal of Endocrinology and Metabolism","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143736252","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}
Marita Antoniadi, Marc Bohnet, Stephan Kellenberger, Dimitra-Irinna Vitoratou, Olga Fafoula, Fani Mylona, Stavroula Kostaridou, Danai Palaiologou, Anna Taliou, Constantine A Stratakis
{"title":"Functional properties of the γ-ENaC-A635V mutation in a patient with severe hyponatremia.","authors":"Marita Antoniadi, Marc Bohnet, Stephan Kellenberger, Dimitra-Irinna Vitoratou, Olga Fafoula, Fani Mylona, Stavroula Kostaridou, Danai Palaiologou, Anna Taliou, Constantine A Stratakis","doi":"10.1007/s42000-025-00637-3","DOIUrl":"https://doi.org/10.1007/s42000-025-00637-3","url":null,"abstract":"<p><strong>Background: </strong>Aldosterone plays a critical role in sodium homeostasis by binding to the mineralocorticoid receptor promoting sodium retention. It increases the expression of epithelial sodium channels (ENaC) and sodium-potassium ATPases in the renal distal tubules and collecting ducts. Defects in aldosterone synthesis lead to hyponatremia, hyperkalemia, hyperreninemia, metabolic acidosis, and hypovolemia.</p><p><strong>Patient: </strong>We present a 7-year-old boy with holoprosencephaly, dysmorphic features, and short stature presenting with persistent hyponatremia since birth and occasional hypokalemia and hyporeninemia. Initial whole exome sequencing (WES) identified a novel in-frame SHH variant, NM_000193.4:c.755_757del (p.Phe252del); possible aldosterone deficiency due to adrenocortical hypoplasia caused by the SHH variant did not fully explain the patient's clinical presentation, prompting further investigation.</p><p><strong>Results: </strong>Deep analysis of the WES data revealed a second variant of unknown significance in the SCNN1G gene affecting the γ-ENaC subunit, namely NM_001039.4.1904 C > T (p.Ala635Val), which was previously unreported in association with a clinical phenotype. Electrophysiological studies of the amiloride-sensitive current before and after trypsin exposure showed that the γ-ENaC-A635V mutation reduced the amiloride-sensitive sodium current by approximately 30%. The trypsin experiments suggested a lower channel open probability and a reduced inward sodium current through the ENaC.</p><p><strong>Conclusions: </strong>These findings indicate that the A635 residue participates in channel function, with γ-Α635V leading to decreased sodium reabsorption. This case underscores the importance of reevaluating genetic data to understand complex clinical presentations and identifies a new potential pathogenic variant affecting sodium homeostasis. The case illustrates how genetic variants with contrasting effects on a physiological loop along with functional changes due to development and age may be hard to interpret.</p>","PeriodicalId":50399,"journal":{"name":"Hormones-International Journal of Endocrinology and Metabolism","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-03-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143736250","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":"Artificial intelligence in diabetes management: transformative potential, challenges, and opportunities in healthcare.","authors":"Arnabjyoti Deva Sarma, Moitrayee Devi","doi":"10.1007/s42000-025-00644-4","DOIUrl":"https://doi.org/10.1007/s42000-025-00644-4","url":null,"abstract":"<p><strong>Background: </strong>Diabetes, a chronic metabolic disorder characterized by ineffective blood sugar regulation, affects millions of people worldwide, with its prevalence projected to more than double in the next 30 years. Diabetes-related complications are severe and sometimes life-threatening, including cardiovascular disease, kidney failure, and blindness, this posing a significant challenge, especially in low- and middle-income countries. This study explored the integration of artificial intelligence (AI) into diabetes management, emphasizing its transformative potential in healthcare.</p><p><strong>Objectives: </strong>To evaluate the role of AI in enhancing diabetes management and to identify the challenges and opportunities associated with its implementation.</p><p><strong>Methods: </strong>A systematic review following the PRISMA guidelines was conducted by analyzing the literature published from January 2020 to May 2024. This review focused on the application of AI in diabetes diagnosis, personalization of treatment, and predictive analytics.</p><p><strong>Results: </strong>The ability of AI to analyze large datasets and identify complex patterns shows promise in improving diabetes management. AI-assisted diagnostic tools enhance diagnostic accuracy, enable early detection, and support personalized treatment plans, thereby reducing human error. AI has also facilitated research breakthroughs in genomics and drug discovery. Furthermore, AI-powered predictive analytics enhances clinical decision-making and supports precision medicine. Despite these advancements, challenges remain in such issues as data quality, technical infrastructure, and ethical considerations, emphasizing the need for responsible AI development that focuses on patient privacy and transparency.</p><p><strong>Conclusions: </strong>AI has significant potential to revolutionize diabetes management and healthcare delivery. Combining AI's analytical processes with clinical expertise can substantially improve the quality of care. Addressing data, technology, and ethical challenges is crucial for fully harnessing AI's potential, thereby enhancing patient well-being and healthcare outcomes.</p>","PeriodicalId":50399,"journal":{"name":"Hormones-International Journal of Endocrinology and Metabolism","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143674803","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":"Association of the thyroid hormone sensitivity index with triglycerides in adolescents: a cross-sectional study.","authors":"Shang-An Si, Rui-Ning Lu, Gui-Ju Zhang","doi":"10.1007/s42000-025-00645-3","DOIUrl":"https://doi.org/10.1007/s42000-025-00645-3","url":null,"abstract":"<p><strong>Background: </strong>Inconsistent findings have emerged from studies examining the relationship between thyroid hormone sensitivity indices and triglycerides (TGs), especially in pediatric and adolescent cohorts. The present study investigates this relationship within adolescent populations in the United States.</p><p><strong>Methods: </strong>Data spanning three periods from 2007 to 2012 were analyzed, including 1813 participants. The thyroid hormone sensitivity index was calculated and weighted multiple linear regression was used to assess the relationships between TG levels and individual thyroid hormone sensitivity indices. Subgroup analyses were conducted as needed and smooth curve fitting plots visualized the linear relationships.</p><p><strong>Results: </strong>The FT3/FT4 ratio was positively correlated with TG (β = 0.649, 95% CI: 0.360-0.938, P < 0.001). This correlation persisted after adjusting for all variables (β = 0.439, 95% CI: 0.154-0.725, P < 0.01). The relationship between the TFQI score and TG concentration demonstrated a significant negative correlation, which remained after controlling for all covariates (β = -0.153, 95% CI: -0.239-0.067, P < 0.01). When stratified into quartiles, the FT3/FT4 ratio and TG exhibited a positive correlation only in the Q3 and Q4 groups. Conversely, the TFQI was significantly correlated with TG exclusively in the Q4 group's positive values. Stratified analyses by sex and age showed clearer associations in female adolescents.</p><p><strong>Conclusions: </strong>The study confirmed the relationship between thyroid hormone sensitivity indices and TGs. Maintaining the FT3/FT4 ratio within a specific range may reduce TG levels. The TFQI may predict TG levels when actual TSH values exceed expected values based on FT4. These findings were most pronounced in female adolescents, highlighting the importance of early monitoring of thyroid health in this group. These results point to the need for improved thyroid function testing in predicting TG levels and preventing hypertriglyceridemia.</p>","PeriodicalId":50399,"journal":{"name":"Hormones-International Journal of Endocrinology and Metabolism","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143674824","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":"Analysis of the efficacy of the ZJU index and triglyceride‒glucose product index in identifying obstructive sleep apnea hypoventilation syndrome in patients with metabolic syndrome.","authors":"Fang Wang, Huimin Ren, Wenfei Zhao, Yifan Liu, Airong Chen","doi":"10.1007/s42000-025-00643-5","DOIUrl":"https://doi.org/10.1007/s42000-025-00643-5","url":null,"abstract":"<p><strong>Purpose: </strong>Metabolic syndrome (MS) and obstructive sleep apnea-hypopnea syndrome (OSAHS) are associated with an increased risk of cardiometabolic disease. The coexistence of OSAHS and metabolic disorders is common, but research on how to recognize OSAHS and how OSAHS risk exacerbates metabolic disorders is limited. This study aimed to analyze the correlations of the ZJU index and triglyceride‒glucose (TyG) index with OSAHS in MS patients and to investigate the ability to use the ZJU index and TyG-related indices to assess the presence and severity of OSAHS in MS patients.</p><p><strong>Methods: </strong>This retrospective study included 216 MS patients with perfect polysomnographic monitoring (PSG), who were categorized into MS combined with OSAHS (n = 142) and MS alone (n = 74) groups according to the sleep monitoring results. The MS combined with OSAHS group was further categorized into mild (n = 55), moderate (n = 34), and severe (n = 53) groups according to the apnea hypopnea index (AHI). The general clinical data, clinical biochemical indices, AHI, mean oxygen saturation (MSaO<sub>2</sub>), lowest oxygen saturation (LSaO<sub>2</sub>), and longest apnea duration were collected from all the included subjects. Composite indices such as the ZJU, TyG, and TyG-BMI indices were calculated. The differences in each metabolic index among the different groups were analyzed; logistic regression analysis was used to compare the correlations between each parameter and OSAHS, and the efficacy of each parameter in identifying OSAHS in the MS population was evaluated by receiver operating characteristic (ROC) curves.</p><p><strong>Results: </strong>The ZJU, TyG, and TyG-BMI indices were associated with OSAHS after adjusting for sex, age, history of hypertension, history of diabetes, and history of smoking (all P < 0.05). The odds ratios for the ZJU, TyG, and TyG-BMI indices were 1.472 (1.293-1.674), 9.811 (3.916-24.582), and 1.032 (1.020-1.044), respectively. The ZJU, TyG, and TyG-BMI indices are effective predictors of the occurrence of OSAHS in MS patients, and their cutoff values could be used for early screening of OSAHS. The ZJU index was the strongest predictor of OSAHS, (area under the curve 0.829, 95% CI 0.771-0.888), with an optimal cutoff value of 38.940.</p><p><strong>Conclusions: </strong>The ZJU, TyG, and TyG-BMI indices are novel, valid, and practical indicators for early screening of OSAHS risk in MS patients.</p>","PeriodicalId":50399,"journal":{"name":"Hormones-International Journal of Endocrinology and Metabolism","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-03-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143674800","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":"3P association and the evolving significance of succinate dehydrogenase (SDHB) mutation in pituitary adenomas.","authors":"Saurav Shishir Agrawal, Alok Kumar Singh, Manju Tyagi, Iqbal Bashir","doi":"10.1007/s42000-025-00639-1","DOIUrl":"https://doi.org/10.1007/s42000-025-00639-1","url":null,"abstract":"","PeriodicalId":50399,"journal":{"name":"Hormones-International Journal of Endocrinology and Metabolism","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-03-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143574539","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":"Aromatase enzyme deficiency in an adult male patient and the effects of estrogen replacement therapy: a rare cause of tall stature.","authors":"Eren Imre, Seçkin Akçay, Dilek Gogas Yavuz","doi":"10.1007/s42000-025-00640-8","DOIUrl":"https://doi.org/10.1007/s42000-025-00640-8","url":null,"abstract":"<p><p>Aromatase enzyme deficiency (AED) is a rare autosomal recessive disorder caused by mutations in the CYP19A1 gene. This disorder causes an inability to convert androgens into estrogens, resulting in excess androgens and estrogen deficiency. AED is typically diagnosed in female infants, but diagnosis in men is often delayed until adulthood due to late-onset skeletal and metabolic issues. We report the case of a 31-year-old male referred for increased height and bone discomfort. Over the past 6 years, his height had increased by 5 cm, accompanied by leg cramps and bone pain. He had a height of 193 cm, weighed 103 kg, and presented with a eunuchoid body habitus. The patient's height was above/at + 2 SD from target height. Laboratory findings revealed elevated FSH, LH, and testosterone, with undetectable estrogen levels. Serum osteocalcin and alkaline phosphatase were elevated. X-rays showed incomplete epiphyseal fusion. Bone densitometry revealed Z scores of -2 (lumbar spine) and - 2.6 (femoral neck). Genetic testing confirmed a homozygous exon 6 deletion in CYP19A1. The patient was treated with transdermal estradiol (25 µg twice weekly), which normalized estradiol, testosterone, and gonadotropin levels. Epiphyseal fusion occurred within 6 months. Aromatase deficiency in men frequently goes undiagnosed until adulthood. Timely diagnosis is crucial to initiating estrogen treatment early after puberty to prevent skeletal problems linked to this disorder.</p>","PeriodicalId":50399,"journal":{"name":"Hormones-International Journal of Endocrinology and Metabolism","volume":" ","pages":""},"PeriodicalIF":2.4,"publicationDate":"2025-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143568615","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}