Journal of Pediatric Endocrinology & Metabolism最新文献

{"title":"The impact of the COVID-19 pandemic on DKA severity in Black and White pediatric patients.","authors":"Shrina Patel, Elyzabeth Amador, Jonathan M Fischell, Erin Bewley, Kaitlin Jeffries, Paula G Newton, Stefanie Zaner Fischell","doi":"10.1515/jpem-2024-0526","DOIUrl":"https://doi.org/10.1515/jpem-2024-0526","url":null,"abstract":"<p><strong>Objectives: </strong>Diabetic ketoacidosis (DKA) is a complication of uncontrolled diabetes mellitus, with a known increase in severity and incidence during the COVID-19 pandemic. Our institution also observed a rise in pediatric DKA cases in our largely underserved patient population. We hypothesized that the impact would be more pronounced in Black patients due to prepandemic healthcare inequities.</p><p><strong>Methods: </strong>To investigate this, we confirmed the increased number of severe DKA cases in our pediatric patients during the pandemic and then stratified data to compare laboratory values between Black and White patients. We analyzed patients with a DKA diagnosis admitted to our institution's pediatric intensive care unit (PICU) prior to the pandemic (March 2016 to December 2017) and during its peak (March 2020 to December 2021).</p><p><strong>Results and conclusions: </strong>Our data demonstrated more cases of severe DKA overall during 2020-2021 and when compared to prepandemic years, a statistically significant increase in severity for Black, but not White patients.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143257313","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":"Insights in non-CAH pediatric primary adrenal insufficiency: a single-center experience from India.","authors":"Aaditya Daga, Manjiri Karlekar, Anurag Lila, Vijaya Sarathi, Anima Sharma, Saba Samad Memon, Rohit Barnabas, Virendra Patil, Hemangini Thakker, Nalini Shah, Tushar Bandgar","doi":"10.1515/jpem-2024-0476","DOIUrl":"https://doi.org/10.1515/jpem-2024-0476","url":null,"abstract":"<p><strong>Objectives: </strong>Pediatric primary adrenal insufficiency (PAI) etiologies beyond congenital adrenal hyperplasia (CAH) show regional variations. Given limited data from India, this study aims to describe the etiological profile, phenotype, and genotype of pediatric PAI in an Indian cohort.</p><p><strong>Methods: </strong>We conducted a retrospective review of patients with PAI onset before 20 years of age from 1998 to 2023 at a single center. After excluding patients with inadequate data (n=20), CAH (n=218), and bilateral adrenalectomy (n=19), we analyzed demographic, clinical, biochemical, and genetic data of the remaining patients.</p><p><strong>Results: </strong>Among 54 patients (45 probands), the median age at presentation was 6 years (range 0.1-19). Common clinical features included hyperpigmentation (90.7 %), adrenal crisis (33.3 %), and seizures (29.6 %). Mineralocorticoid deficiency was present in two-third patients including one patient each with <i>AAAS</i>, <i>MRAP</i>, and <i>NNT</i> mutation. Adrenoleukodystrophy (ALD) was the most common cause (40 %), followed by ACTH resistance states (20 %), early steroidogenic defects (13.3 %), congenital adrenal hypoplasia (11.1 %), autoimmune causes (8.9 %), and tuberculosis (4.5 %). Genetics diagnosed 14/15 patients without phenotypic clues and confirmed diagnoses in 21 tested of 30 with phenotypic pointers (alacrimia in <i>AAAS</i>, hypoparathyroidism/candidiasis in autoimmune polyendocrine syndrome-1 and neurodeficit in ALD). Genetics differentiated <i>CYP11A1</i> mutation from suspected ALD in two siblings with neurological deficits. We identified seven novel gene variants. We report the first case of <i>NNT</i> associated with 46,XY gonadal dysgenesis. Adrenal tuberculosis was a unique cause of pediatric PAI.</p><p><strong>Conclusions: </strong>This study reveals diverse non-CAH pediatric PAI etiologies in India, emphasizing genetic testing's importance for precise diagnoses and suggests region-specific diagnostic algorithm.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143081897","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":"Development of bone mineral density and content in children with cerebral palsy: a retrospective, longitudinal study.","authors":"Philipp Koebke, Leonie Schafmeyer, Bruno Lentzen, Titus Keller, Eckhard Schoenau, Ibrahim Duran","doi":"10.1515/jpem-2024-0519","DOIUrl":"https://doi.org/10.1515/jpem-2024-0519","url":null,"abstract":"<p><strong>Objectives: </strong>The aim of this study was to investigate long-term bone development in children with cerebral palsy (CP) using longitudinal measurements of total body less head bone mineral content (TBLH-BMC) and bone mineral density (TBLH-BMD).</p><p><strong>Methods: </strong>A retrospective longitudinal analysis was performed on 109 children with CP who participated in a rehabilitation programme from 2006 to 2018. Dual-energy X-ray absorptiometry (DXA) scans were performed at the beginning of the programme and repeated as clinically indicated. The study used SITAR growth curve analysis and the LMS method within the GAMLSS model to generate developmental trajectories for TBLH-BMC and TBLH-BMD.</p><p><strong>Results: </strong>The findings suggest that the expected developmental trajectories of TBLH-BMC and TBLH-BMD in children with CP approximately follow the third percentile of healthy children. The median annual increase in bone mineral density was similar between GMFCS I-II and III-V groups at 5.12 and 5.79 %, respectively. Girls with CP reached age at peak velocity (APV) earlier than boys. The intensive exercise programme may have contributed to greater annual bone growth in children with more severe CP.</p><p><strong>Conclusions: </strong>Children with CP have bone growth trajectories close to the third percentile of their healthy peers, suggesting that age-adjusted z-scores for TBLH-BMC and BMD remain relatively stable throughout childhood and adolescence. Early and targeted interventions, including improving muscle strength and mobility and optimising nutritional and hormonal status, are essential to promote better bone health and quality of life in children with CP.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143069296","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":"Differentiating true precocious puberty and puberty variants in consecutive 275 girls: a single center experience.","authors":"Emre Sarıkaya, Fatih Kilci","doi":"10.1515/jpem-2024-0467","DOIUrl":"10.1515/jpem-2024-0467","url":null,"abstract":"<p><strong>Objectives: </strong>This study aimed to identify clinical features of girls referred to a pediatric endocrinology clinic for suspected precocious puberty, differentiate true precocious puberty from other variants, evaluate treatment status, and identify distinguishing factors between patient groups.</p><p><strong>Methods: </strong>We retrospectively evaluated the records of 275 consecutive girls aged 0-10 years referred for suspected precocious puberty.</p><p><strong>Results: </strong>Among the patients, 30 (10.9 %) were diagnosed with precocious puberty, 35 (12.7 %) with premature adrenarche, 22 (8 %) with premature thelarche, 33 (12 %) with rapidly progressing early puberty, 108 (39.3 %) with early puberty, and 47 (17.1 %) had a normal diagnosis. Precocious puberty was associated with higher rates of overweight/obesity (p=0.002), advanced bone age (p<0.001), height SD, and mid-parental height SD difference (p<0.001), as well as a history of preterm birth (p=0.041). Patients with rapidly progressing early puberty had mothers with a lower age at menarche (p=0.040). No significant differences were found for being born small for gestational age, maternal polycystic ovary syndrome, screen time, and junk food consumption (p>0.05). Treatment was recommended for 32 patients (11.6 %), including 11 with precocious puberty and 21 with rapidly progressing early puberty.</p><p><strong>Conclusions: </strong>Most patients referred for early pubertal development are diagnosed with normal puberty or its variants. Assessing preterm birth, early maternal menarche age, and advanced bone age helps identify true precocious puberty and rapidly progressing early puberty, aiding timely treatment.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-01-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143069301","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":"Causal associations between childhood obesity and delayed puberty or height: a bidirectional two-sample Mendelian randomization study.","authors":"Lulu Cui, Ying Zhang, Ting Dong, Liya Xu","doi":"10.1515/jpem-2024-0438","DOIUrl":"https://doi.org/10.1515/jpem-2024-0438","url":null,"abstract":"<p><strong>Objectives: </strong>Childhood obesity is thought to influence pubertal development, according to observational studies. However, the exact causal relationship remains unclear due to the complexity of factors affecting pubertal development.</p><p><strong>Methods: </strong>To explore the association between exposure (childhood obesity) and outcome (delayed puberty, height), we utilized various methods, including inverse-variance weighted (IVW), weighted median, weighted mode, and MR Egger regression. Additionally, sensitivity analyses were conducted using MR-Egger, MR-PRESSO, Cochran's Q, and leave-one-out techniques to ensure the robustness of the results. Additionally, reverse MR analysis was conducted to explore potential reverse causation.</p><p><strong>Results: </strong>The IVW analysis revealed no significant genetic causal link between childhood obesity and delayed puberty or height (all P>0.05). In the reverse analysis, height had a causal association with childhood obesity (OR=0.85, 95 % CI=0.76-0.96). The Cochran's Q test highlighted heterogeneity in the results concerning childhood obesity and height (p<0.05). But the MR-Egger intercept and MR-PRESSO test confirmed no impact the results pleiotropic bias, supported by leave-one-out sensitivity analysis.</p><p><strong>Conclusions: </strong>Our study found no significant genetic causal association between childhood obesity and delayed puberty or height. However, height was causally associated with childhood obesity. Future research should utilize advanced analytical methods to better understand the determinants of pubertal development.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143061180","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 transfer of care experience in young adults with type 1 diabetes.","authors":"April Yerges, Yulia Semeniuk, Kimberly Vidmar, Rachel Stanek, Beth Van Den Langenberg, Aaron Carrel, Tracy Bekx","doi":"10.1515/jpem-2024-0456","DOIUrl":"https://doi.org/10.1515/jpem-2024-0456","url":null,"abstract":"<p><strong>Objectives: </strong>To explore the experiences and perceptions of young adults with type 1 diabetes (T1D) after they transferred care from a pediatric to an adult clinic, utilizing an organized transfer process that included a Diabetes Transition Clinic (DTC) and a transfer letter (TL).</p><p><strong>Methods: </strong>This retrospective study used a semi-structured interview 1-1.5 years after transfer of care, which gathered both quantitative and qualitative data of young adults (n=12) who transferred care at an average age of 19.6 years, within a Midwest academic medical center. Descriptive statistics and thematic analysis were used to analyze the data and to identify emerging themes.</p><p><strong>Results: </strong>Most participants were worried about their transfer of care and found attending a DTC valuable. Most found the TL helpful in summarizing their diabetes care. Emerging themes demonstrated the importance of preparing the young adult for change, supporting their emotional journey, and developing connections with their new diabetes team.</p><p><strong>Conclusions: </strong>For young adults with diabetes, the transfer of care from pediatric to adult is a time of apprehension. Incorporating a DTC and TL can facilitate this journey by preparing patients for change and developing ways to deepen connections with new providers.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-01-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143061182","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":"Moebius syndrome and hypopituitarism: a case of multiple pituitary hormone deficiency and revision of the literature.","authors":"Silvia Molinari, Maria Laura Nicolosi, Angelo Selicorni, Chiara Fossati, Martina Lattuada, Iacopo Bellani, Federica Arcuti, Riccardo Carnevale, Andrea Biondi, Adriana Balduzzi, Alessandro Cattoni","doi":"10.1515/jpem-2024-0494","DOIUrl":"https://doi.org/10.1515/jpem-2024-0494","url":null,"abstract":"<p><strong>Objectives: </strong>Moebius syndrome (MS) is a rare congenital non-progressive rhombencephalic disorder mostly characterised by abducens and facial nerve palsy, but with a multifaceted clinical presentation. Isolated or multiple pituitary hormone deficiencies in the setting of MS have been occasionally reported, but the simultaneous involvement of three or more hypothalamic-pituitary axes has never been described. We hereby report the case of a girl with MS that showed a co-occurrence of GH-, TSH- and ACTH-deficiency. In addition, we provide a systematic revision of all the published cases of hypopituitarism among patients with MS.</p><p><strong>Case presentation: </strong>A 6-year-old patient with a MS was referred to our outpatient clinic for faltering growth. The combination of stature below -3.0 SDS, impaired height velocity and pathological response to two GH-stimulation tests prompted the diagnosis of GH deficiency and therefore recombinant human GH was undertaken. Brain MRI highlighted a thin infundibular stalk. By the age of 10 years, she started to complain progressive fatigue and the co-occurrence of remarkably decreased fT4 levels in the setting of non-increased TSH led to diagnose central hypothyroidism. Accordingly, she was started on levothyroxine replacement therapy with timely clinical improvement. At the age of 11.3 years, recurrent symptoms consistent with morning hypoglycaemia prompted the prescription of a low-dose ACTH test, that confirmed an ACTH deficiency, in the setting of a multiple pituitary hormonal impairment.</p><p><strong>Conclusions: </strong>Patients with MS are potentially at risk for either isolated or multiple pituitary hormones deficiency. Clinicians should lower the threshold for prescribing a dedicated endocrine assessment.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143025699","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":"Do children with type 1 diabetes mellitus remain protected against hepatitis B?","authors":"Pınar Yılmazbaş, Diğdem Bezen, Eren Vurgun","doi":"10.1515/jpem-2024-0520","DOIUrl":"https://doi.org/10.1515/jpem-2024-0520","url":null,"abstract":"<p><strong>Objectives: </strong>Because patients with type 1 diabetes mellitus (T1DM) have persistent and profound limitations in immune functions, immune response to vaccines may diminish. The aim of our study was to compare the antibody to Hepatitis B surface antigen (anti-HBs) serologies of children with T1DM, at the time of T1DM diagnosis, who were vaccinated according to the vaccination schedule with the anti-HBs serologies of healthy children. And to investigate the relationship between anti-HBs levels and the accompanying variables of these patients.</p><p><strong>Methods: </strong>Anti-HBs and Hepatitis B surface antigen (HBs Ag) results of 214 children with T1DM and 210 healthy children were recorded retrospectively. Seropositivity rates for anti-HBs were compared between T1DM and control groups and the odds of seropositivity were examined. Clinical and laboratory data of T1DM patients were investigated according to anti-HBs seropositivity.</p><p><strong>Results: </strong>Anti-HBs seropositivity rates and titers in the T1DM group were significantly lower than those in the healthy group. According to anti-HBs status among T1DM patients; no difference was found in terms of gender, BMI, presence of comorbidities, presence of autoantibodies and lipid profiles. Diagnosis age and HbA1c levels of anti-HBs negative group were higher than anti-HBs positive group in patients diagnosed with T1DM. However, neither age nor HbA1c level was found to significantly change the odds of the seropositivity for anti-HBs in T1DM patients after adjustment.</p><p><strong>Conclusions: </strong>We recommend that children diagnosed with T1DM should have anti-HBs serology tested at the time of diagnosis and seronegative patients should have additional hepatitis B vaccination.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-01-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143025647","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":"Neonatal severe hyperparathyroidism with inactivating calcium sensing receptor (CaSR) mutation (p.I81K).","authors":"Zeynep Donbaloglu, Merve Gullu, Suat Tekin, Gungor Karaguzel, Mesut Parlak, Hale Tuhan, Doga Turkkahraman","doi":"10.1515/jpem-2024-0569","DOIUrl":"10.1515/jpem-2024-0569","url":null,"abstract":"<p><strong>Objectives: </strong>Neonatal severe hyperparathyroidism (NSHPT) is a rare condition characterized by inactivating mutations in the calcium-sensing receptor (<i>CaSR</i>) gene, leading to significant hypercalcemia and related complications.</p><p><strong>Case presentation: </strong>We present a case of a six-day-old male infant with weakness, jaundice, and hypotonia, later diagnosed with NSHPT due to a known homozygous <i>CaSR</i> mutation (c.242T>A; p.I81K). Initial laboratory findings revealed markedly elevated serum calcium levels and high parathyroid hormone levels which were compatible with primary hyperparathyroidism. After initial management, bisphosphonates were administered, resulting in the patient remaining normocalcemic for 11 months, although hyperparathyroidism persisted. Then, due to the ongoing hyperparathyroidism, cinacalcet was added and continued for nine months. Finally, a total parathyroidectomy was performed. Postoperatively, the patient developed hypoparathyroidism, necessitating long-term supplementation with calcium and calcitriol. By the last follow-up at 3 years, the patient exhibited normal growth parameters and no neurodevelopmental deficits.</p><p><strong>Conclusions: </strong>This case underscores the importance of early diagnosis and intervention in NSHPT and highlights the critical role of medical treatment, surgical management and long-term follow-up in optimising patient outcomes. Continued research is essential to enhance understanding and treatment strategies for NSHPT.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143014946","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":"Expanding the genotypic spectrum of 3β-hydroxy-δ5-C27-steroid dehydrogenase (HSD3B7) deficiency: novel mutations and clinical outcomes.","authors":"Merve Yoldaş Çelik, Burcu Köşeci, Ezgi Burgaç, Sevinç Garip, Fatma Ilknur Varol, Şükrü Güngör, Didem Gulcu Taskin, Kanay Yararbaş","doi":"10.1515/jpem-2024-0454","DOIUrl":"https://doi.org/10.1515/jpem-2024-0454","url":null,"abstract":"<p><strong>Objectives: </strong>HSD3B7 deficiency is a genetic disorder caused by mutations in the <i>HSD3B7</i> gene, leading to impaired bile acid synthesis and the accumulation of toxic intermediates. Affected patients typically present with cholestatic liver disease, including jaundice and progressive liver dysfunction.</p><p><strong>Case presentation: </strong>This case series describes three pediatric patients from two families diagnosed with HSD3B7 deficiency, each demonstrating varying clinical severity and outcomes. All cases exhibited cholestasis with normal GGT levels and elevated AST/ALT. Case 1, a male infant, also presented with craniosynostosis and failure to thrive, responding well to cholic acid therapy. Case 2, a female infant and first cousin of Case 1, had mild cardiac abnormalities and showed slight improvement with ursodeoxycholic acid and vitamin supplementation. Case 3, a male infant with a compound <i>HSD3B7</i> and <i>ATP8B1</i> mutation, progressed to fulminant liver failure, ultimately requiring a liver transplant. A novel c.531 + 1G>C variant was identified in Cases 1 and 2, contributing to understanding genotype-phenotype correlations in bile acid synthesis disorders.</p><p><strong>Conclusions: </strong>Early diagnosis and treatment with bile acid therapy are crucial for improving outcomes, although some cases may necessitate liver transplantation. This series emphasizes the need to consider bile acid synthesis disorders in the differential diagnosis of cholestasis.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142973063","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}