Journal of pediatric endocrinology & metabolism : JPEM最新文献

筛选
英文 中文
Phosphoglucomutase 1 deficiency misdiagnosed as Laron syndrome. 磷酸葡萄糖糖化酶1缺乏症误诊为Laron综合征。
IF 1
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2025-10-17 DOI: 10.1515/jpem-2025-0447
Seyit Ahmet Uçaktürk, Emre Özer, Ahmet Cevdet Ceylan, Eda Mengen
{"title":"Phosphoglucomutase 1 deficiency misdiagnosed as Laron syndrome.","authors":"Seyit Ahmet Uçaktürk, Emre Özer, Ahmet Cevdet Ceylan, Eda Mengen","doi":"10.1515/jpem-2025-0447","DOIUrl":"https://doi.org/10.1515/jpem-2025-0447","url":null,"abstract":"<p><strong>Objectives: </strong>Protein glycosylation is a crucial process involving the addition of oligosaccharides to proteins, which plays a significant role in stabilizing proteins and mediating protein-protein interactions. Mutations in genes associated with glycosylation can lead to congenital disorders of glycosylation (CDG), resulting in multisystem disorders. One such example is phosphoglucomutase 1 (PGM1) -CDG, caused by a deficiency of the PGM1 enzyme. In this report, we describe a patient with PGM1-CDG who was initially misdiagnosed with growth hormone insensitivity and benefited from recombinant human insulin-like growth factor-1 (rhIGF-1) therapy.</p><p><strong>Case presentation: </strong>A 2-year-11-month-old female patient, born to first-degree cousin parents, presented with hypoglycemia and short stature. Her physical examination revealed frontal bossing, infantile facial appearance, and short stature. Laboratory investigations revealed that basal and stimulated growth hormone levels were very high, IGF-1 was low, and the inadequate response to the IGF generation test was consistent with growth hormone insensitivity (GHI). The patient was started on rhIGF-1 therapy, resulting in significant height gain. Subsequently, the patient showed improvement in height with rhIGF-1 therapy. The patient, who had additional findings such as elevated creatine kinase (CK) and transaminase levels and cardiomyopathy, was diagnosed with PGM1-CDG.</p><p><strong>Conclusions: </strong>This case highlights that PGM1-CDG can mimic clinical and laboratory findings of GHI. CDG diagnosis should be considered in cases with clinical and laboratory findings of GHI accompanied by multisystem disorders such as hepatopathy, elevated CK, and cardiomyopathy. This patient's successful response to rhIGF-1 therapy highlights the potential benefits of targeted therapies in treating growth hormone-related disorders in patients.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145305315","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Maturity-onset diabetes of the young due to HNF1β variants (HNF1β-MODY): a 2-year follow-up study of six patients from a single diabetes center. 由HNF1β变异体(HNF1β- mody)引起的年轻人的成熟型糖尿病:来自一个糖尿病中心的6例患者的2年随访研究
IF 1
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2025-10-17 DOI: 10.1515/jpem-2025-0213
Handan Jiang, Yue Luo, Xiufeng Huang, Huiping Wu, Xiaoou Shan
{"title":"Maturity-onset diabetes of the young due to <i>HNF1β</i> variants (<i>HNF1β</i>-MODY): a 2-year follow-up study of six patients from a single diabetes center.","authors":"Handan Jiang, Yue Luo, Xiufeng Huang, Huiping Wu, Xiaoou Shan","doi":"10.1515/jpem-2025-0213","DOIUrl":"https://doi.org/10.1515/jpem-2025-0213","url":null,"abstract":"<p><strong>Objectives: </strong>Summarize the clinical phenotypes and genotypic characteristics of Chinese pediatric patients with maturity-onset diabetes of the young due to <i>HNF1β</i> variants (<i>HNF1β</i>-MODY).</p><p><strong>Methods: </strong>Retrospective analysis of clinical characteristics, blood biochemical indexes, and genetic testing data was conducted on six children diagnosed with <i>HNF1β</i>-MODY followed in a single institution in Wenzhou from July 2020 to July 2024.</p><p><strong>Results: </strong>Among the six children, three males and three females with a median age of diabetes onset at 12.3, four presented with pancreatic dysplasia. Extra-pancreatic manifestations included renal structural abnormalities(6/6), hypomagnesemia(6/6), hyperuricemia(4/6), elevated liver enzymes(4/6), hyperlipidemia(3/6), and genital tract malformation(1/6). Genetic testing identified a heterozygous <i>HNF1β</i> exon: 1-9 deletion in one patient, while the other five 17q12 microdeletions. Four children started insulin therapy at diagnosis, demonstrating no progressive decline in insulin secretion function and well-maintained insulin dependency. Six children received oral magnesium supplementation, and blood magnesium levels persisted at the lower limit of normal, without neuromuscular complications. Combined therapy with urinary alkalinizing agents and uricosuric drugs in three patients effectively maintained the serum urate levels, without observed progression. Hepatoprotective therapy decreased liver enzymes in two cases.</p><p><strong>Conclusions: </strong>The clinical phenotype of <i>HNF1β</i>-MODY encompasses early-onset diabetes mellitus, pancreatic dysplasia, kidney disease, liver dysfunction, and genitourinary tract malformations, with refractory hypomagnesemia and hyperuricemia representing pathognomonic features. Early genetic confirmation can facilitate timely insulin initiation, guide targeted correction of electrolyte imbalances and metabolic disorders, and trigger proactive multi-organ monitoring for disease evolution.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145305304","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The clinical picture of symptomatic Rathke cleft cysts in children. 儿童症状性拉特克裂囊肿的临床表现。
IF 1
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2025-10-13 DOI: 10.1515/jpem-2025-0407
Ayse Nurcan Cebeci, Michaela Marx, Regina Trollmann, Michael Buchfelder, Helmuth-Günther Dörr, Joachim Woelfle
{"title":"The clinical picture of symptomatic Rathke cleft cysts in children.","authors":"Ayse Nurcan Cebeci, Michaela Marx, Regina Trollmann, Michael Buchfelder, Helmuth-Günther Dörr, Joachim Woelfle","doi":"10.1515/jpem-2025-0407","DOIUrl":"https://doi.org/10.1515/jpem-2025-0407","url":null,"abstract":"<p><strong>Objectives: </strong>Rathke cleft cysts (RCC) in childhood are rare, often asymptomatic, and thus discovered incidentally. We aimed to summarize clinical features and pituitary function of patients with symptomatic RCC.</p><p><strong>Methods: </strong>This retrospective study included 14 patients (8 male) from the university hospital's database (period 2005-2023).</p><p><strong>Results: </strong>RCC diagnosis based on magnetic resonance imaging at 12.2 (1.8-17.6) years. Presenting symptoms were headaches (n=8), occurring alone (n=1) or with nausea/fatigue (n=2), polydipsia (n=2), or dizziness (n=3), followed by growth retardation (n=5), occurring alone (n=4) or with polydipsia (n=1). Two patients exhibited visual disturbances. Endocrinological evaluation revealed pituitary insufficiency in 10, including isolated or combined growth hormone (GH) deficiency (n=5), arginine-vasopressin deficiency (AVP-D; n=5), central hypothyroidism (n=2), and hypocortisolism (n=2). Three patients had hyperprolactinemia. Nine patients were monitored by regular imaging; five underwent surgery. In the observation group, cyst size remained unchanged in seven and decreased in two patients, while it increased in four patients treated surgically. At last presentation after 6.4 (0.33-14.8) years of follow-up, the endocrine status of the conservatively followed patients was normal in n=6, and pathological in n=3. Pituitary function did not normalize after surgery. Five patients developed hypogonadotropic hypogonadism, including two children who were followed conservatively.</p><p><strong>Conclusions: </strong>We found a high incidence of pituitary insufficiency among symptomatic pediatric RCC patients. Pituitary function was not closely related to cyst size or location and did not improve after surgery. Regular clinical and radiological follow-up is mandatory for both conservatively and surgically treated patients.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145282526","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A 2-year-old girl with merged phenotypes: galactosemia and Coffin-Lowry syndrome. 2岁女童合并表型:半乳糖血症和Coffin-Lowry综合征。
IF 1
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2025-10-13 DOI: 10.1515/jpem-2025-0159
Esra Sayar, Gizem Gökçe Altaş, Abdullah Sezer, Abdulkerim Kolkıran, Berna Ucan, Asburce Olgac
{"title":"A 2-year-old girl with merged phenotypes: galactosemia and Coffin-Lowry syndrome.","authors":"Esra Sayar, Gizem Gökçe Altaş, Abdullah Sezer, Abdulkerim Kolkıran, Berna Ucan, Asburce Olgac","doi":"10.1515/jpem-2025-0159","DOIUrl":"https://doi.org/10.1515/jpem-2025-0159","url":null,"abstract":"<p><strong>Objectives: </strong>Galactosemia is a congenital disorder of carbohydrate metabolism, in which the body is unable to metabolize galactose properly. Coffin-Lowry syndrome (CLS) is characterized by intellectual disability, developmental delay, dysmorphic features, growth retardation, vision and hearing loss, and skeletal changes, which is an X-linked disorder, with males being more severely affected, whereas the clinical findings in females show variability. This case is presented due to the rare concomitance of galactosemia and CLS.</p><p><strong>Case presentation: </strong>A 2-year-old female patient, previously diagnosed with galactosemia, who had good dietary adherence was noticed to have developmental delay, dysmorphic features, nephrolithiasis and recurrent pericardial effusions during follow-up. Further research was carried out to diagnose an underlying second disease. Metabolic tests were inconclusive. Clinical exome sequencing (CES) analysis, revealed a heterozygous c.472C>T p. (Arg158Cys) pathogenic variant in <i>RPS6KA3</i> (OMIM #300075) and CLS (OMIM #303600) was diagnosed.</p><p><strong>Conclusions: </strong>This case report is a unique summary of a patient with galactosemia who further was diagnosed with CLS that emphasizes the possibility of co-occurrence of rare diseases and highlights the importance of conducting further investigations in patients with unexplained findings in the context of existing metabolic diseases.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145282536","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Mucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutations. II型和III型粘脂病:临床谱,遗传景观,以及六个新突变的儿科队列的纵向结果。
IF 1
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2025-10-10 DOI: 10.1515/jpem-2025-0352
Fehime Erdem, Ebru Canda, Havva Yazıcı, Rabia Eser, Merve Yoldaş Çelik, Selcan Keşan, Merve Saka Güvenç, Tahir Atik, İpek Tamsel, Hüseyin Onay, Sema Kalkan Uçar, Eser Yıldırım Sözmen, Mahmut Çoker
{"title":"Mucolipidosis type II and III: clinical spectrum, genetic landscape, and longitudinal outcomes in a pediatric cohort with six novel mutations.","authors":"Fehime Erdem, Ebru Canda, Havva Yazıcı, Rabia Eser, Merve Yoldaş Çelik, Selcan Keşan, Merve Saka Güvenç, Tahir Atik, İpek Tamsel, Hüseyin Onay, Sema Kalkan Uçar, Eser Yıldırım Sözmen, Mahmut Çoker","doi":"10.1515/jpem-2025-0352","DOIUrl":"https://doi.org/10.1515/jpem-2025-0352","url":null,"abstract":"<p><strong>Objectives: </strong>Mucolipidosis (ML) type II α/β (I-cell disease) and type III (Pseudo-Hurler polydystrophy) are rare autosomal recessive lysosomal storage disorders caused by mutations in the <i>GNPTAB</i> (ML III α/β) and <i>GNPTG</i> (ML III γ) genes, leading to impaired lysosomal enzyme trafficking. These disorders manifest as progressive multisystem diseases with skeletal, neurological, cardiovascular, and respiratory involvement. This study aims to characterise pediatric patients' clinical, biochemical, genetic, and radiological findings with ML II α/β and IIIα/β or γ to enhance understanding of disease diagnosis and progression.</p><p><strong>Methods: </strong>This retrospective cohort study included 19 pediatric patients (15 ML II α/β, 3 ML III γ, 1 ML III α/β) diagnosed at a tertiary referral center. Clinical data, including facial dysmorphism, skeletal abnormalities, organomegaly, cardiovascular involvement, and neurological findings, were recorded at baseline and follow-up. Biochemical analysis included urinary glycosaminoglycan (GAG) levels and lysosomal enzyme activities. For molecular diagnostics, next-generation sequencing (NGS) was utilized using a targeted gene panel that contained <i>GNPTG</i> and <i>GNPTAB</i> leukocytes from peripheral blood were used to harvest genomic DNA. Following the 2015 ACMG/AMP standards, variant interpretation was carried out by evaluating pathogenicity using in silico prediction methods, population frequency data, and segregation analysis. Radiological findings were evaluated via skeletal X-rays and brain MRI.</p><p><strong>Results: </strong>The median age at diagnosis was 8 months (range: 1 day-252 months), with a consanguinity rate of 63.1 %. ML II α/β patients presented earlier and had more severe findings, including coarse facies, respiratory tract involvement, cardiac abnormalities, and joint contractures. Cardiac valve disease, kyphosis, and progressive hearing loss were frequent. The most common mutation in <i>GNPTAB</i> was c.3503_3504delTC in ML II α/β, while <i>GNPTG</i> variants were linked to ML III γ. Radiologic findings often included hip dysplasia; brain MRIs showed callosal and subarachnoid abnormalities in a few cases. Median survival in ML II α/β was 28 months, mainly due to respiratory failure. Enzyme assays revealed elevated β-hexosaminidase A and A+B, α-D-mannosidase, and α-L-fucosidase activities in both leukocyte and DBS samples, consistent with molecular diagnoses.</p><p><strong>Conclusions: </strong>In addition to reporting six novel <i>GNPTAB/GNPTG</i> mutations, this study highlights the diagnostic potential of dried blood spot (DBS) samples, where elevated lysosomal enzyme activity may offer a valuable, minimally invasive screening method for ML II/III.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-10-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145254468","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Adrenal oncocytoma: an unusual etiology of Cushing's syndrome in an adolescent female. 肾上腺嗜瘤细胞瘤:一个不寻常的病因库欣综合征的青少年女性。
IF 1
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2025-10-01 DOI: 10.1515/jpem-2025-0369
Saba Samad Memon, Manjunath Havalappa Dodamani, Sanjay Chaudhari, Zalak Parmar, Kaushal Patel, Suresh Bhoi, Ravikumar Shah
{"title":"Adrenal oncocytoma: an unusual etiology of Cushing's syndrome in an adolescent female.","authors":"Saba Samad Memon, Manjunath Havalappa Dodamani, Sanjay Chaudhari, Zalak Parmar, Kaushal Patel, Suresh Bhoi, Ravikumar Shah","doi":"10.1515/jpem-2025-0369","DOIUrl":"https://doi.org/10.1515/jpem-2025-0369","url":null,"abstract":"<p><strong>Objectives: </strong>This report presents a rare pediatric functional AO causing CS and androgen excess. It aims to discuss the diagnostic challenges of cortisol and DHEAS co-secretion, which may mimic adenomas or carcinomas. It also emphasizes the role of clinical, biochemical, and imaging assessments, as well as histological classification using LWB criteria, and the need for long-term follow-up.</p><p><strong>Case presentation: </strong>A 17-year-old female presented with weight gain, moon facies, cushingoid striae, oligomenorrhea, and acne over six months. Examination showed hypertension, grade I obesity, cushingoid stigmata without virilization. Endocrine evaluation was confirmed ACTH independent CS due to right AO.</p><p><strong>Conclusions: </strong>This case illustrates functional AO as a rare cause of adolescent CS with androgen excess. Co-secretion patterns complicate diagnosis, imaging may not be definitive, and long-term follow-up is vital due to uncertain prognosis.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145194396","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Pitfalls in the diagnosis of carnitine palmitoyltransferase 1 deficiency. 肉毒碱棕榈酰转移酶1缺乏症的诊断误区。
IF 1
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2025-09-29 DOI: 10.1515/jpem-2025-0382
Sarah C Grünert, Urs Berger, Friederike Hörster, Kathrin Schwarz, Eva Thimm, Ute Spiekerkoetter, Dorothea Haas, Anke Schumann
{"title":"Pitfalls in the diagnosis of carnitine palmitoyltransferase 1 deficiency.","authors":"Sarah C Grünert, Urs Berger, Friederike Hörster, Kathrin Schwarz, Eva Thimm, Ute Spiekerkoetter, Dorothea Haas, Anke Schumann","doi":"10.1515/jpem-2025-0382","DOIUrl":"https://doi.org/10.1515/jpem-2025-0382","url":null,"abstract":"<p><strong>Objectives: </strong>Carnitine palmitoyltransferase 1 A (CPT1A) deficiency is an ultra-rare autosomal recessive disorder of the carnitine cycle caused by biallelic pathogenic variants in the <i>CPT1A</i> gene. It mainly presents with a hepatic phenotype and is a target disease of newborn screening programs worldwide. Disease-specific and diagnostic abnormalities of CPT1A deficiency comprise elevated concentrations of free carnitine as well as an elevated metabolite ratio [C0/(C16 + C18)] in blood, but the ideal sample material has been a matter of debate.</p><p><strong>Methods: </strong>We present biochemical data of five CPT1A deficient patients, of whom four were diagnosed by newborn screening from dried blood spots.</p><p><strong>Results: </strong>Our cases demonstrate that acylcarnitine profiles and especially concentrations of free carnitine can be normal in plasma in infants with CPT1AD at confirmation diagnosis after screening and during follow-up. Even the [C0/(C16 + C18)] ratio yielded normal results in some cases.</p><p><strong>Conclusions: </strong>Our data show, that dried blood is the preferred sample material for the diagnosis of CPT1A deficiency as it is superior to serum/plasma with respect to diagnostic sensitivity and reliability in quantification of the ratio [C0/(C16 + C18)]. CPT1A deficiency can be missed, if the analysis is only performed in serum or plasma, and confirmatory diagnostics in serum or plasma after screening can be false negative.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145188255","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Noonan syndrome and autoimmune hepatitis: patient report and literature review. 努南综合征与自身免疫性肝炎:患者报告和文献复习。
IF 1
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2025-09-29 DOI: 10.1515/jpem-2025-0301
Aurora Pescini, Nina Tyutyusheva, Giuseppe Indolfi, Chiara Rubino, Federica Sodini, Diego Peroni, Silvano Bertelloni
{"title":"Noonan syndrome and autoimmune hepatitis: patient report and literature review.","authors":"Aurora Pescini, Nina Tyutyusheva, Giuseppe Indolfi, Chiara Rubino, Federica Sodini, Diego Peroni, Silvano Bertelloni","doi":"10.1515/jpem-2025-0301","DOIUrl":"https://doi.org/10.1515/jpem-2025-0301","url":null,"abstract":"<p><strong>Objectives: </strong>Noonan syndrome (NS) is a genetic disease characterized by dysregulation in the RAS/MAPK pathway. Affected individuals present peculiar physical features, short stature, and congenital cardiovascular defects. Autoimmune hepatitis is a chronic immunoinflammatory liver disease.</p><p><strong>Case presentation: </strong>A 17-year-old boy with NS due to <i>PTPN11</i> gene variation and type 1 autoimmune hepatitis (AIH-1; biopsy proven) is described. A literature search on the association between NS and AIH1 showed additional two cases.</p><p><strong>Conclusions: </strong>This report highlights the importance of monitoring patients with NS for signs of autoimmune diseases, mainly liver dysfunction. Precise mechanisms linking NS and AIH-1 remain unclear. Anyway, the dysregulation of the RAS/MAPK pathway may be involved. Periodic monitoring of transaminases and prompt evaluation with liver biopsy should be done to optimize diagnosis and treatment of people with NS.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-09-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145182467","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Causal analysis of uterine artery pulsatility index-related proteins and the risk of precocious puberty in girls: a Mendelian randomization study. 子宫动脉搏动指数相关蛋白与女孩性早熟风险的因果分析:一项孟德尔随机研究
IF 1
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2025-09-26 DOI: 10.1515/jpem-2025-0073
Yi Gao, Fengfeng Qi
{"title":"Causal analysis of uterine artery pulsatility index-related proteins and the risk of precocious puberty in girls: a Mendelian randomization study.","authors":"Yi Gao, Fengfeng Qi","doi":"10.1515/jpem-2025-0073","DOIUrl":"https://doi.org/10.1515/jpem-2025-0073","url":null,"abstract":"<p><strong>Objectives: </strong>Precocious puberty in girls is a condition marked by the early onset of secondary sexual characteristics, with vascular factors like uterine artery pulsatility index having been suggested as potential indicators.</p><p><strong>Methods: </strong>We performed Mendelian randomization (MR) analysis using genetic instruments from large-scale genome-wide association studies (GWAS) datasets, including ebi-a-GCST008403, ukb-a-250, and ukb-b-11971, to evaluate the relationship between arterial stiffness and precocious puberty. Exposure and outcome data were sourced from the GWAS Catalog, eQTLGen, and the R11_E4_PREPUB dataset. The TwoSampleMR package was employed to assess causal relationships, with several MR methods applied, including inverse variance weighted, MR Egger, weighted median, and mode-based methods.</p><p><strong>Results: </strong>Our analysis of arterial stiffness using ebi-a-GCST008403, ukb-a-250, and ukb-b-11971 datasets did not show a statistically significant causal relationship with precocious puberty. The IVW method showed an OR of 0.707 (p=0.885) for arterial stiffness, indicating no reliable association. The investigation into MMP2 also yielded non-significant results across all methods, with an OR of 0.778 (p=0.330) from the IVW method. However, the analysis of MMP9 revealed a significant association with precocious puberty, showing an OR of 3.89 (p=0.004) using the IVW method, and an OR of 3.96 (p=0.027) from the Weighted Median method, indicating a strong positive effect of MMP9 on precocious puberty risk.</p><p><strong>Conclusions: </strong>Our findings suggest that while arterial stiffness and other MMPs do not have a significant causal role, MMP9 may significantly increase the risk of precocious puberty in girls.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-09-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145153205","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Clinical insights of the TBX19 C.856 C>T variant: a case report and literature review on neonatal isolated ACTH deficiency. TBX19 C.856 C>T变异的临床观察:新生儿孤立ACTH缺乏症1例报告及文献复习
IF 1
Journal of pediatric endocrinology & metabolism : JPEM Pub Date : 2025-09-25 DOI: 10.1515/jpem-2025-0381
Sirmen Kizilcan Cetin, Zeynep Siklar, Zehra Aycan, Elif Ozsu, Aysegul Ceran, Merih Berberoglu
{"title":"Clinical insights of the <i>TBX19</i> C.856 C>T variant: a case report and literature review on neonatal isolated ACTH deficiency.","authors":"Sirmen Kizilcan Cetin, Zeynep Siklar, Zehra Aycan, Elif Ozsu, Aysegul Ceran, Merih Berberoglu","doi":"10.1515/jpem-2025-0381","DOIUrl":"https://doi.org/10.1515/jpem-2025-0381","url":null,"abstract":"<p><strong>Objectives: </strong>Congenital isolated adrenocorticotropic hormone deficiency (IAD) is a rare condition often caused by variants in the <i>TBX19 gene</i>, leading to significant adrenal insufficiency and metabolic disturbances in neonates. Early recognition and treatment are significant for improving outcomes. Although the c.856 C>T (p.Arg286Ter) variant in <i>TBX19</i> has been identified as pathogenic, little is known about the genotype-phenotype correlation due to the limited number of cases.</p><p><strong>Case description: </strong>We present a male infant diagnosed with neonatal IAD, presenting with hypoglycemic seizures, hypokalemia, and cholestasis within the first 10 h postnatally. There was notable facial dysmorphism, including long philtrum, depressed nasal root, epicanthus, prominent low ears, and mild hypertelorism. A homozygous c.856 C>T (p.Arg286Ter) variant in <i>TBX19</i> was identified by genetic analysis. After receiving hydrocortisone treatment, the patient showed normal growth and neurodevelopment by the age of 3.2, free from hypoglycemia or recurrent seizures.</p><p><strong>Conclusions: </strong>Variants in <i>TBX19</i>, especially the c.856 C>T mutation, are a predominant cause of neonatal-onset adrenal insufficiency disorder (IAD). Prompt assessment of adrenal function in neonates presenting with hypoglycemia and cholestasis is essential for accurate diagnosis and timely initiation of hydrocortisone replacement therapy. Genetic assessment is essential for improving patient outcomes and advancing our comprehension of the relationship between genotype and phenotype.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2025-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145133060","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信