Journal of pediatric endocrinology & metabolism : JPEM最新文献

{"title":"Three cases of hereditary hypomagnesemia with secondary hypocalcemia caused by novel <i>TRPM6</i> gene mutations and a literature review.","authors":"Mengjie Yang, Zhichao Zheng, Xiaoou Shan, Yue Luo","doi":"10.1515/jpem-2026-0185","DOIUrl":"10.1515/jpem-2026-0185","url":null,"abstract":"<p><strong>Objectives: </strong>Hereditary hypomagnesemia with secondary hypocalcemia (HSH), also referred to intestinal hypomagnesemia 1 (HOMG1), is an extremely rare autosomal recessive genetic disorder with an unclear incidence rate. To summarize the clinical phenotypes and genetic characteristics of Chinese patients with HSH caused by <i>TRPM6</i> gene mutations.</p><p><strong>Case presentation: </strong>Three Chinese children in our center presented with afebrile convulsions, one of them developed gross hematuria. These three patients carried a total number of four novel <i>TRPM6</i> mutations: c.4599C>G, c.274A>G, c.517T>A, and c.5135-1G>A. Among the 30 Chinese HSH patients, 21 were male and 9 were female. The median age of onset was 5.50 (2.00, 10.25) months. The average serum magnesium level increased from 0.24 ± 0.13 mmol/L before treatment to 0.57 ± 0.10 mmol/L after treatment. The main clinical symptom was convulsions (90.0 %), predominantly afebrile convulsions. Developmental delay was observed in 23.3 % of patients, and 36.7 % had normal electroencephalogram and brain MRI findings.</p><p><strong>Conclusions: </strong>HSH primarily presents with convulsions in infancy. For patients of different ages with unexplained recurrent convulsions or tetany, if the fractional excretion of magnesium (FEMg) is ≤2 %, HSH should be considered as a primary diagnosis.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"917-925"},"PeriodicalIF":1.0,"publicationDate":"2026-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148298807","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}

{"title":"A case report of Xp21 contiguous gene deletion syndrome with adrenal crisis and sensorineural hearing loss: clinical highlights and management pitfalls.","authors":"Rungroj Thangpong, Samkhwan Thongsukkaeo, Kulpatra Paisansukanant, Nattakarn Numsriskulrat","doi":"10.1515/jpem-2026-0136","DOIUrl":"10.1515/jpem-2026-0136","url":null,"abstract":"<p><strong>Objectives: </strong>To report a rare association of Xp21 contiguous gene deletion syndrome (CGDS) featuring sensorineural hearing loss (SNHL), and to discuss the diagnostic and therapeutic challenges.</p><p><strong>Case presentation: </strong>A male infant presented with a salt-wasting adrenal crisis consistent with X-linked adrenal hypoplasia congenita. His follow-up clinical course during childhood revealed global developmental delay and SNHL, the latter of which has been under-reported in the literature for this condition. At five years of age, the development of progressive proximal muscle weakness and markedly elevated creatine phosphokinase levels led to a diagnosis of Duchenne muscular dystrophy (DMD). The patient also exhibited pseudohypertriglyceridemia and elevated urinary glycerol, consistent with glycerol kinase deficiency. While initial exome sequencing failed to detect the genetic abnormality, subsequent chromosomal microarray analysis identified an Xp21 CGDS involving <i>NR0B1</i>, <i>IL1RAPL1</i>, <i>DMD</i>, and <i>GK</i>. Treatment of adrenal insufficiency with fludrocortisone and hydrocortisone was complicated by the higher steroid doses required for the management of DMD, resulting in exogenous Cushing syndrome and associated complications.</p><p><strong>Conclusions: </strong>This case highlights the necessity of evaluating for Xp21 CGDS in patients presenting with adrenal crisis and emphasizes the importance of multidisciplinary management to optimize outcomes in this complex pediatric endocrine disorder.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"944-950"},"PeriodicalIF":1.0,"publicationDate":"2026-06-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148261219","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}

{"title":"Clinical characteristics and endocrine outcomes of functional and nonfunctional adrenal lesions in children: a single-center cohort study.","authors":"Duygu Deligozoglu, Sirmen Kizilcan Cetin, Gonul Buyukyilmaz, Irem Gokdemir, Gul Hatice Erkol Tuncer, Neriman Sari, Pinar Kocaay, Derya Tepe, Mujdem Nur Azili, Mehmet Boyraz, Fatih Gurbuz","doi":"10.1515/jpem-2026-0094","DOIUrl":"10.1515/jpem-2026-0094","url":null,"abstract":"<p><strong>Objectives: </strong>Pediatric adrenal lesions are rare and clinically heterogeneous and present with hormonally active or inactive phenotypes. Functional lesions may cause significant endocrine morbidity. This study aimed to evaluate the clinical, biochemical, radiological, and pathological characteristics of pediatric adrenal lesions and to determine which findings obtained during the initial diagnostic evaluation may help distinguish functional from nonfunctional lesions.</p><p><strong>Methods: </strong>This retrospective single-center cohort study included children evaluated for adrenal lesions between January 2020 and June 2025. Patients were classified as having functional or nonfunctional lesions on the basis of clinical and biochemical evidence of hormonal activity. Demographic features, hormonal profiles, imaging findings, pathological characteristics, treatment modalities and follow-up outcomes were analysed.</p><p><strong>Results: </strong>A total of 44 patients were included; 12 (27.3 %) had functional lesions, and 32 (72.7 %) had nonfunctional lesions. The tumor size was significantly larger for functional lesions (median 54.0 vs. 19.0 mm, p<0.001). Premature pubarche, clitoromegaly, cushingoid features and hypertension were more common in the functional group. Tumor size was positively correlated with total testosterone levels, and the bone age-to-chronology age ratio was associated with several hormonal parameters. Distinct clinical manifestations, including premature pubarche, virilization, cushingoid features, and hypertension, were predominantly observed in functional lesions. Germline pathogenic variants were identified in three patients with adrenocortical carcinoma (TP53) and in one patient with pheochromocytoma (VHL).</p><p><strong>Conclusions: </strong>Functional adrenal lesions in the pediatric population are characterized by a relatively large tumor size, distinct hormonal secretion patterns, and specific clinical manifestations. Key findings obtained during the initial diagnostic evaluation can facilitate early differentiation between functional and nonfunctional lesions, thereby supporting more accurate clinical stratification and informing optimal management strategies.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"660-669"},"PeriodicalIF":1.0,"publicationDate":"2026-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148255478","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}

{"title":"Clinical course of Graves' orbitopathy in children with newly diagnosed hyperthyroidism: a prospective observational study.","authors":"Derya Tepe, Duygu Deligozoglu, Ceyda Baskan, Refika Gören, Pınar Kocaay, Fatih Gürbüz, Mehmet Boyraz","doi":"10.1515/jpem-2026-0095","DOIUrl":"10.1515/jpem-2026-0095","url":null,"abstract":"<p><strong>Objectives: </strong>Although Graves' orbitopathy (GO) in childhood is generally considered milder than in adults, data regarding its clinical course and relationship with thyroid autoimmunity remain limited. This study aimed to evaluate the frequency and clinical characteristics of GO in pediatric patients with newly diagnosed hyperthyroidism and to assess short-term changes in ocular findings during follow-up.</p><p><strong>Methods: </strong>In this prospective observational study, 24 children with hyperthyroidism were enrolled. All ophthalmologic examinations were performed by the same ophthalmologist. Ocular findings were assessed according to the 2021 EUGOGO criteria, and disease activity was determined using the Clinical Activity Score (CAS). Thyroid function tests and autoantibodies, including anti-thyroid peroxidase antibody, thyrotropin receptor antibody, and thyroid-stimulating immunoglobulin, were evaluated at baseline and at 6 months. Associations between clinical, biochemical, and ophthalmologic parameters were analyzed statistically.</p><p><strong>Results: </strong>The mean age was 14.1 ± 3.4 years, and 75 % of patients were female. At baseline, 83.3 % had mild GO and 16.7 % had moderate-to-severe disease. CAS values were <3 at both time points in all patients, and no active orbitopathy was observed. Hertel measurements showed no significant changes during follow-up. Significant reductions in anti-thyroid peroxidase antibody, thyrotropin receptor antibody, and thyroid-stimulating immunoglobulin levels were observed at 6 months. Baseline Hertel values correlated positively with thyrotropin receptor antibody levels. Beta-blocker requirement decreased from 66.7 % at baseline to none at 6 months. Only one patient (4.2 %) showed transient progression in EUGOGO severity.</p><p><strong>Conclusions: </strong>In pediatric hyperthyroidism, GO is usually mild and inactive, with rare short-term clinical progression. Despite marked improvement in thyroid autoimmunity, ocular findings remained largely stable. These results support the generally benign course of childhood GO and emphasize the importance of detailed ophthalmologic assessment at diagnosis.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"701-710"},"PeriodicalIF":1.0,"publicationDate":"2026-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147978345","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}

{"title":"Fresh frozen plasma as functional replacement therapy in early infantile ApoC-II deficiency: a molecularly confirmed case series.","authors":"Nurcan Üçüncü Ergun, Merve Aslantaş","doi":"10.1515/jpem-2026-0123","DOIUrl":"10.1515/jpem-2026-0123","url":null,"abstract":"<p><strong>Objectives: </strong>Familial chylomicronemia syndrome (FCS) caused by apolipoprotein C-II (ApoC-II) deficiency is a rare and potentially life-threatening disorder characterized by severe hypertriglyceridemia beginning in early infancy. This study aimed to describe the clinical, biochemical, and molecular characteristics of infants with ApoC-II deficiency and to evaluate the therapeutic and diagnostic role of fresh frozen plasma (FFP).</p><p><strong>Case presentation: </strong>We report three male infants from consanguineous families presenting with extreme hypertriglyceridemia (range: 3,228-5,802 mg/dL). All patients carried the homozygous <i>APOC2</i> c.55+1G>C pathogenic variant. A fat-restricted diet was initiated at diagnosis; however, the rate of triglyceride reduction was insufficient for rapid metabolic stabilization. Administration of FFP (10 mL/kg twice daily for three days) resulted in marked biochemical improvement, with up to 98.3 % reduction in triglyceride levels within 72 h. Clinical manifestations included lactescent serum, vomiting, and eruptive xanthomas, which resolved following treatment.</p><p><strong>Conclusions: </strong>FFP infusion provides temporary functional ApoC-II replacement, enabling rapid metabolic stabilization while supporting the diagnosis of ApoC-II deficiency in early infancy. Early recognition and timely intervention may help prevent serious complications during the establishment of definitive long-term dietary management.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"939-943"},"PeriodicalIF":1.0,"publicationDate":"2026-05-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147966888","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}

{"title":"Parent-perceived stressors and stress-dosing practices during suspected adrenal crisis in children with congenital adrenal hyperplasia: a cross-sectional, parent-reported study.","authors":"Sarah K Cubberley, Laurie A Minns","doi":"10.1515/jpem-2025-0604","DOIUrl":"10.1515/jpem-2025-0604","url":null,"abstract":"<p><strong>Objectives: </strong>Adrenal crisis (AC) is a life-threatening complication in children with congenital adrenal hyperplasia (CAH). While physiological stressors are well-recognized precipitants, the contribution of psycho-emotional stressors remains poorly understood. This study evaluated the prevalence of parent-reported adrenal crises associated with psycho-emotional stressors in children with CAH and examined associations with child age, sex, and CAH phenotype.</p><p><strong>Methods: </strong>This cross-sectional observational study enrolled parents of children under 18 years of age with CAH living in the United States (IRB H25-0397; n=131). Parent-perceived psycho-emotional adrenal crisis (PEAC) prevalence was assessed, and associations with child age, sex, and phenotype were evaluated. Parents also reported perceived triggers, symptoms, and management strategies for suspected PEAC events.</p><p><strong>Results: </strong>A total of 115 parents representing 118 children with clinically diagnosed CAH participated. Children were predominantly female (58.5 %), had a median age of 6 years, and most had salt-wasting CAH (76.1 %). Lifetime parent-reported AC prevalence was 85.5 %, with 47.0 % reporting at least one AC in the prior year. Suspected PEAC events were reported in 24.3 % of children, and 11.3 % experienced a suspected event within the previous 12 months. Overall AC rates did not differ by sex; however, recent suspected PEAC events were more frequently reported in female children. Half of parents reported proactively increasing glucocorticoid doses during psycho-emotional stress, a practice strongly associated with prior PEAC history. Most suspected PEAC episodes were managed at home, though approximately one-third required emergency medical care.</p><p><strong>Conclusions: </strong>Psycho-emotional stressors may contribute to suspected adrenal crises in children with CAH, particularly among female or older children. Further research involving both parents and clinicians is needed to validate these findings and to optimize guidance for PEAC recognition and management.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"670-680"},"PeriodicalIF":1.0,"publicationDate":"2026-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147936725","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}

{"title":"Reliability of point-of-care glucose in neonates: revisiting hypoglycemia protocols in the NICU.","authors":"Ibrahim Hamama, Vikram Katodia, Natalie M Landry, Seth D Mark, Michael R Narvey","doi":"10.1515/jpem-2025-0736","DOIUrl":"10.1515/jpem-2025-0736","url":null,"abstract":"<p><strong>Objectives: </strong>Hypoglycemia is a common metabolic problem in newborns, often asymptomatic but can lead to cognitive impairment and neuromotor delays. This study assesses the practicality and accuracy of whole blood capillary bedside glucose measurements using a point-of-care (POC) glucometer compared to serum glucose levels obtained via laboratory methods. The objective of this article was to evaluate the reliability of POC glucose levels in the NICU and compare them with central laboratory glucose measurements.</p><p><strong>Methods: </strong>A retrospective cross-sectional comparative study was conducted on 108 newborns admitted to the NICU at the Health Science Center, Winnipeg, Manitoba, Canada, between September 2022 and August 2024. Hypoglycemic POC glucose results from the Nova Stat Strip glucose meter were compared to confirmatory central laboratory serum glucose results produced on the Roche cobas c501 analyzer.</p><p><strong>Results: </strong>A significant correlation was observed between serum glucose levels and glucometer readings, with a correlation coefficient of 0.825. Regression analyses showed a slope of 1.223 (Deming) and 1.200 (Passing-Bablok), with intercepts of -0.75 and -0.70, respectively.</p><p><strong>Conclusions: </strong>Accurate blood glucose measurement is critical for early detection and management of neonatal hypoglycemia. Given the reliability of current glucometers and their close correlation to serum samples, this study questions the need for confirmatory serum samples in the presence of bedside hypoglycemic results.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"532-536"},"PeriodicalIF":1.0,"publicationDate":"2026-05-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147944691","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}

{"title":"Corrigendum to: Family and culture in type 1 diabetes transition care: a mini review.","authors":"Jennifer A Kelleher, Megan Kozak, Hiroko Sugiwaka, Lindsay R Druskin Grimes, Christina L Duncan","doi":"10.1515/jpem-2026-0266","DOIUrl":"10.1515/jpem-2026-0266","url":null,"abstract":"","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"628"},"PeriodicalIF":1.0,"publicationDate":"2026-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147937143","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}

{"title":"Automatic bone age assessment for adult height prediction in children with congenital adrenal hyperplasia.","authors":"Kürşat Çetin, Ebru Barsal Çetiner, Yasemin Funda Bahar, Ali Tırtar, Mesut Parlak, Hale Tuhan","doi":"10.1515/jpem-2026-0101","DOIUrl":"10.1515/jpem-2026-0101","url":null,"abstract":"<p><strong>Objectives: </strong>This study aimed to evaluate the clinical accuracy of automated BoneXpert (BX) vs. clinician-based Greulich-Pyle (GP) bone age (BA) assessments by comparing their respective predicted adult heights (PAH) with near-final height (NFH) in patients with congenital adrenal hyperplasia (CAH).</p><p><strong>Methods: </strong>Forty-seven patients with classic salt-wasting CAH diagnosed in the neonatal period who had reached NFH were included. Left hand-wrist radiographs obtained during the prepubertal period (6-9 years) were evaluated manually by two clinicians using the GP atlas and by the BX-GP method. PAH was calculated for both sexes using the Bayley-Pinneau (BP) method based on clinician- and BX-derived BA. PAH standard deviation scores (SDS) were compared with NFH-SDS and target height (TH)-SDS. Agreement was assessed using Bland-Altman analysis.</p><p><strong>Results: </strong>Thirty patients (63.8 %) were female. Mean ages at bone age assessment and NFH were 7.3 and 16.1 years, respectively. Mean prepubertal height-SDS was 0.0 in girls and -0.25 in boys, while NFH-SDS was -0.79 and -1.14, respectively. Mean bone age according to clinician-GP was 7.80 years in girls and 8.16 in boys, and 7.69 and 8.14 years according to BX-GP. Clinician-based PAH-SDS was -1.0 in girls and -1.18 in boys, whereas BX-based PAH-SDS was -0.86 and -1.17, respectively. BX-based PAH was closer to NFH in girls (p<0.001), with no significant difference in boys. In both sexes, PAH-SDS and NFH-SDS were significantly lower than TH-SDS (p<0.001).</p><p><strong>Conclusions: </strong>PAH calculations using the BP method based on BX-derived GP bone age readings more accurately predicted NFH in patients with CAH.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"464-471"},"PeriodicalIF":1.0,"publicationDate":"2026-05-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147826063","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}

{"title":"Cardiac involvement across mucopolysaccharidosis subtypes: insights from a longitudinal single-center study.","authors":"Dilek Borakay, Mushkinaz Karimova, Bilge Noyan, Figen Akalin, Huriye Nursel Elcioglu","doi":"10.1515/jpem-2025-0675","DOIUrl":"10.1515/jpem-2025-0675","url":null,"abstract":"<p><strong>Objectives: </strong>This study aimed to evaluate the pattern, extent, and progression of left- and right-sided cardiac involvement in patients with mucopolysaccharidosis followed in a single tertiary center.</p><p><strong>Methods: </strong>45 patients (24 males, 21 females) with enzymatically confirmed MPS (Types I, II, III, IV, and VI) followed between 2000 and 2018 were evaluated. Demographic data, consanguinity, clinical characteristics, electrocardiographic (ECG) and echocardiographic findings, and treatment data, including enzyme replacement therapy (ERT), were collected from medical records. Cardiac pathologies were characterized by echocardiography and chest radiography.</p><p><strong>Results: </strong>The mean age at diagnosis was 6.64 ± 5.07 years. A high rate of consanguinity was observed: 73 % of parents had consanguineous marriages, including 40 % first-degree and 22.22 % second-degree. The most frequent cardiac findings were mitral insufficiency (53.3 %), and aortic insufficiency (35.6 %). ECG revealed sinus rhythm in all patients, with no conduction abnormalities. Mitral insufficiency was significantly more frequent in patients with pectus carinatum (100 vs. 40 % in those without pectus carinatum; p=0.023). Similarly, aortic insufficiency was significantly more frequent in patients with kyphoscoliosis (63.64 vs. 23.81 %; p=0.027).</p><p><strong>Conclusions: </strong>Cardiac involvement is frequent and clinically significant in MPS. The left-sided cardiac pathology did not deteriorate during follow-up, whereas progression was observed in right-sided cardiac involvement. Regular, systematic cardiac evaluation is essential in all MPS subtypes. The findings also underscore the importance of genetic counseling in populations with high consanguinity to improve early diagnosis and guide long-term management strategies.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"472-481"},"PeriodicalIF":1.0,"publicationDate":"2026-05-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147877076","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}