Journal of pediatric endocrinology & metabolism : JPEM最新文献

{"title":"Overweight and obesity in youth with type 1 diabetes.","authors":"H Javier Velasquez, Xiaofan Huang, Charles Minard, Alejandro F Siller, Raquel M Gupta, Jordana Faruqi, Alfonso Hoyos-Martinez, Stephanie Sisley, Maria J Redondo","doi":"10.1515/jpem-2026-0168","DOIUrl":"10.1515/jpem-2026-0168","url":null,"abstract":"<p><strong>Objectives: </strong>Overweight and obesity are highly prevalent in the general population but remain understudied in pediatric type 1 diabetes (T1D). We aimed to estimate the incidence and identify associated factors for developing elevated BMI in a contemporary, real-world cohort of racially diverse lean youth with new-onset T1D.</p><p><strong>Methods: </strong>We reviewed medical records from 1,394 youth who were lean (BMI <85th percentile) at the onset of T1D between 2012 and 2024 (excluding those with thyroid or celiac diseases at any time), used BMI trajectory to stratify into mutually exclusive categories (stayed lean, developed overweight, or developed obesity), compared these for baseline characteristics, and estimated relative risk of becoming overweight or obese.</p><p><strong>Results: </strong>Over a median of 29.2 months, 64.8 % of youth remained lean, 26.7 % developed overweight, and 8.5 % obesity. We identified significant baseline factors associated with the development of overweight (female, p<0.001; having multiple positive islet autoantibodies, p=0.026; and having lower hemoglobin A_1c, p<0.001) and obesity (female, p=0.003). There were no statistically significant associations with age at T1D diagnosis, health insurance type, or positivity for thyroid or celiac antibodies.</p><p><strong>Conclusions: </strong>In sum, over 33 % of lean youth developed elevated BMI within a median of 2.4 years after T1D onset. Early identification of characteristics associated with incident overweight and obesity in youth with T1D may inform targeted weight-management interventions following diagnosis.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"866-874"},"PeriodicalIF":1.0,"publicationDate":"2026-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148521800","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":"Changes in thyroid volume during the course of treatment of congenital primary hypothyroidism with an <i>in situ</i> thyroid gland.","authors":"Yunuscan Yılmaz, Semra Çetinkaya, Nursel Muratoglu Sahin","doi":"10.1515/jpem-2026-0210","DOIUrl":"10.1515/jpem-2026-0210","url":null,"abstract":"<p><strong>Objectives: </strong>Changes in thyroid volume (TV) during the course of treatment of primary congenital hypothyroidism (CH) have not been fully elucidated. This study aimed to evaluate changes in TV according to etiology and their impact on treatment withdrawal rates.</p><p><strong>Methods: </strong>Clinical features and thyroid ultrasonography (US) findings at diagnosis and at 3 years of age were evaluated in 178 patients with gland <i>in situ</i> CH.</p><p><strong>Results: </strong>At diagnosis, thyroid ultrasound showed normal volume (64.3 %, n=133), hyperplastic (16.9 %, n=35), and hypoplastic (4.8 %, n=10) glands. In hyperplastic cases, median TV decreased significantly from 4.08 SDS (2.00-22.63) to 0.55 SDS (-1.68-8.52) over 3 years (p<0.0001), while hypoplastic glands showed an increase from -2.25 SDS (-2.75-2.00) to -1.05 SDS (-2.50-0.70) (p=0.005). No significant change was observed in normal volume patients [-0.42 SDS (-1.93-1.87) vs. -0.23 SDS (-2.36-5.16), p=0.305]. Transient CH rates differed by morphology (60.9 , 48.6, and 20 %, respectively; p=0.025). At 3 years, 70 % (n=7) of initially hypoplastic glands reached normal volume, with a treatment withdrawal rate of 28.6 %.</p><p><strong>Conclusions: </strong>In this study, which is the first to evaluate TV changes during the course of CH treatment, a significant decrease in TV SDS was found in patients with hyperplasia, whereas a significant increase was observed in those with hypoplasia. Despite initial hyperplasia or hypoplasia, TV could normalize over time, and treatment withdrawal was possible even in these groups.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"875-882"},"PeriodicalIF":1.0,"publicationDate":"2026-07-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148521859","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":"Genotype-phenotype correlations in children with short stature: results of targeted next-generation sequencing.","authors":"Rabia Meral, Eren Er, Berna Eroğlu Filibeli, Özgür Kırbıyık, Merve Saka Güvenç, Bumin N Dündar","doi":"10.1515/jpem-2026-0267","DOIUrl":"10.1515/jpem-2026-0267","url":null,"abstract":"<p><strong>Objectives: </strong>Short stature is a frequent reason for referral to pediatric endocrinology clinics, and its underlying cause often remains unclear. This study aimed to determine the diagnostic yield of targeted next-generation sequencing (NGS) and to evaluate genotype-phenotype correlations in children with short stature.</p><p><strong>Methods: </strong>This retrospective observational study included 64 children (37 males, 27 females) with short stature (height < -2 SDS) who underwent targeted NGS using a 185-gene panel. Patients were divided into two groups: those with pathogenic or likely pathogenic variants and all remaining patients. Clinical and anthropometric characteristics were compared between groups.</p><p><strong>Results: </strong>Genetic variants were identified in 31 patients (48.4 %), and pathogenic or likely pathogenic variants in 18, corresponding to a diagnostic yield of 28.1 %. Variants were distributed across 25 genes, most frequently <i>FLNB</i> (n=3) and <i>OBSL1</i> (n=2). Compared with others, patients with pathogenic or likely pathogenic variants had lower birth weight SDS (-1.69 ± 1.73 vs. -0.56 ± 1.08, p=0.046), higher consanguinity (50 % vs. 13 %, p=0.007), and a smaller difference between bone age and chronological age (p=0.031). No differences were found in height SDS, parental height, or target height.</p><p><strong>Conclusions: </strong>Targeted NGS provides a substantial diagnostic yield in children with short stature and reveals marked genetic heterogeneity. Clinical features such as consanguinity and lower birth weight may help identify patients with a higher likelihood of a genetic etiology. These findings support the integration of genetic testing into the diagnostic evaluation of selected patients with short stature.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"910-916"},"PeriodicalIF":1.0,"publicationDate":"2026-07-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148440315","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":"Continuous glucose monitoring characteristics of common MODY subtypes and their clinical applications: a review.","authors":"Aibibai Rouzimaimaiti, Jiazireya Zaiyinati, Yanrong Ma, Fuhui Ma, Rui Ma, Yan Hu, Yanying Guo","doi":"10.1515/jpem-2026-0198","DOIUrl":"10.1515/jpem-2026-0198","url":null,"abstract":"<p><strong>Background: </strong>Maturity-onset diabetes of the young (MODY) is a heterogeneous monogenic diabetes category caused by defects in genes involved in pancreatic β-cell development, glucose sensing, or insulin secretion. In children, adolescents, and young adults, its clinical presentation may overlap with type 1 diabetes (T1D) or early-onset type 2 diabetes (T2D), which can complicate etiological classification.</p><p><strong>Content: </strong>This review examines continuous glucose monitoring (CGM) patterns in <i>HNF1A</i>-, <i>GCK</i>-, <i>HNF4A</i>-, <i>HNF1B</i>-, and KATP channel-related MODY. PubMed/MEDLINE, Embase, Web of Science Core Collection, and Scopus were searched through March 1, 2026, with supplementary citation tracking. Priority was given to genetically confirmed or clearly defined studies reporting CGM/flash glucose monitoring (FGM) metrics, glycemic variability, hypoglycemic exposure, or treatment-transition data.</p><p><strong>Summary and outlook: </strong>CGM can complement glycated hemoglobin (HbA_1c) by showing stable mild hyperglycemia, postprandial excursions, nocturnal or asymptomatic hypoglycemia, and treatment-related fluctuations. It should not be used as a substitute for genetic diagnosis. Multicenter, genetically confirmed studies using standardized CGM metrics are needed to clarify its role in precision management.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"845-853"},"PeriodicalIF":1.0,"publicationDate":"2026-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148431902","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":"Novel <i>NPR2</i> heterozygous variant in a familial short stature and the therapeutic response to rhGH: a case report.","authors":"Dongmei Wang, Xuyun Hu, Shan Su, Yajun Yi, Yaxing Zeng, Ke Zhang, Yuan Ding, Chanjuan Hao, Rui Wang, Di Wu","doi":"10.1515/jpem-2025-0185","DOIUrl":"https://doi.org/10.1515/jpem-2025-0185","url":null,"abstract":"<p><strong>Objectives: </strong>Natriuretic peptide receptor 2 (<i>NPR2</i>) expression in the hypertrophic zone of the growth plate is essential for endochondral ossification. Heterozygous variants in the <i>NPR2</i> gene have been identified in 2-6 % of idiopathic short stature cases. Here, we present a large family with a novel heterozygous <i>NPR2</i> variant, detailing endocrine features and long-term recombinant human growth hormone (rhGH) therapy outcomes.</p><p><strong>Case presentation: </strong>A total of 18 subjects among the family exhibited short stature. The proband was a 5.2-year-old boy presenting with proportionate short stature, delayed bone age, facial abnormalities, premature delivery, small for gestational age and hypospadias. Whole-exome sequencing revealed a novel heterozygous variant, c.553G>A variant, in the <i>NPR2</i> gene, leading to the missense variant site in the extracellular ligand-binding domain of NPR2 protein. All the family members with <i>NPR2</i> gene mutation demonstrated marked short stature, except for four subjects. Five other children who received rhGH therapy were also included in the results. The difference between bone age and chronological age in all six children ranged from -2.3 to 0 years. The average height SDS before rhGH treatment ranged from -4.01 to -1.20 (-2.59 ± 1.16). The treatment has lasted for 4.68 ± 2.68 years, and height SDS improved by 1.54 ± 0.78 after rhGH therapy.</p><p><strong>Conclusions: </strong>Our study confirms <i>NPR2</i> variants as a cause of familial short stature (FSS), with variability in phenotypes, clinical features, and rhGH response, even within families. Early genetic testing might be crucial for offspring with FSS, as it allows for timely initiation of rhGH therapy.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":""},"PeriodicalIF":1.0,"publicationDate":"2026-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148431916","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":"Birth prevalence and characterisation of congenital hyperinsulinism in Western Australia over two decades.","authors":"Adam J Stafford-Bell, Amanda J Hooper, Rachel Romans, Rebecca Flavel, Shripad Rao, Catherine S Y Choong, Sarah E Flanagan, Mary B Abraham","doi":"10.1515/jpem-2026-0122","DOIUrl":"10.1515/jpem-2026-0122","url":null,"abstract":"<p><strong>Objectives: </strong>To describe the birth prevalence and characterise the genotype, phenotype and management of children with congenital hyperinsulinism (CHI) in Western Australia (WA).</p><p><strong>Methods: </strong>A population-based retrospective study (2005-2024) of children with CHI was conducted at the tertiary paediatric centre in WA. Children with transient perinatal stress-induced HI and insulinoma were excluded. Data collection included clinical presentation, investigations and management.</p><p><strong>Results: </strong>The birth prevalence was 1 in 17,394 per 100,000 live births. Of 40 CHI cases, 65 % were neonatal presentations. 32.5 % were symptomatic with seizures in 15 % of presentations. An aetiology was identified in 80 % (n=32); 64.5 % (n=21) had identified pathogenic gene variants with K-ATP channel defects in 14 children [ABCC8 (n=11), KCNJ11 (n=3)], the remainder had syndromic HI (n=11). 80 % (n=32) responded to medical therapies; 78 % (n=25) had an identified etiology. A pathogenic variant was identified in six of the seven infants with CHI which resolved in six months. Of those children who were diazoxide unresponsive (n=10), two stabilised on octreotide while eight (20 %) required surgical management, which was curative in focal lesions (n=2). Secondary diabetes post pancreatectomy (n=6) occurred at a mean age of 5.25 years. The cohort had high continuous glucose monitoring uptake (92 %) for glucose monitoring following subsidy with nine commenced in the neonatal period.</p><p><strong>Conclusions: </strong>The prevalence of CHI in WA is higher than the reported European-ancestry population due to early genetic evaluation of newborns with CHI. Correlation between genotype and phenotype is consistent with literature and supports genetic investigation of infants with CHI to inform management.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"854-865"},"PeriodicalIF":1.0,"publicationDate":"2026-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148379576","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":"Sterile abscesses during GnRH agonist therapy for central precocious puberty: a case series and literature review.","authors":"Walter Maria Sarli, Carlotta Tartarini, Nicolò Chiti, Gaia Varriale, Silvia Ricci, Stefano Stagi","doi":"10.1515/jpem-2026-0250","DOIUrl":"10.1515/jpem-2026-0250","url":null,"abstract":"<p><strong>Objectives: </strong>Long-acting gonadotropin-releasing hormone agonists (GnRHa) are standard therapy for central precocious puberty (CPP). Depot formulations (triptorelin, leuprolide) ensure sustained release via biodegradable matrices. Rare sterile injection-site abscesses may impair drug absorption and efficacy, and evidence on management is limited.</p><p><strong>Cases presentation: </strong>Two patients (0.68 %) out of the 290 treated at our center with depot GnRHa between 2023 and 2025 developed recurrent culture-negative abscesses. They had normal immune workup and no IgE-mediated hypersensitivity or mastocytosis. Lesions caused pain, transient inflammation, and reduced efficacy. In one case, topical hydrocortisone butyrate 0.1 % for 5 days post-injection resolved abscesses and restored efficacy.</p><p><strong>Conclusions: </strong>Sterile abscesses are a rare but relevant complication of GnRHa therapy. Early recognition and exclusion of infection/allergy are key. Our experience with a patient who showed a good response to topical corticosteroids may be relevant in offering a conservative therapeutic option to treat the abscess lesion without discontinuing GnRHa therapy.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"926-932"},"PeriodicalIF":1.0,"publicationDate":"2026-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148304536","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":"Neonatal diabetes due to a truncating RFX6 mutation in an extremely low birth weight preterm infant with Mitchell-Riley syndrome.","authors":"Birgul Mutlu","doi":"10.1515/jpem-2026-0162","DOIUrl":"10.1515/jpem-2026-0162","url":null,"abstract":"<p><strong>Objectives: </strong>Mitchell-Riley syndrome (MRS) is a rare autosomal recessive disorder caused by pathogenic variants in the <i>RFX6</i> gene and characterized by neonatal diabetes, pancreatic hypoplasia with exocrine insufficiency, intestinal atresia, and hepatobiliary abnormalities. Despite increasing recognition of the syndrome, the number of reported cases remains limited and clinical management remains challenging. We aimed to report a preterm infant with an extremely low birth weight and a truncating <i>RFX6</i> mutation to highlight the severe metabolic instability that may occur in such patients.</p><p><strong>Case presentation: </strong>We report a preterm male infant born at 31 weeks of gestation with a birth weight of 880 g who presented with duodenal atresia, severe hyperglycemia beginning on postnatal day 4, chronic diarrhea, pancreatic exocrine insufficiency, and cholestasis. Imaging revealed gallbladder aplasia and pancreatic hypoplasia. Genetic analysis identified a homozygous truncating variant in the <i>RFX6</i> gene (c.1573C>T; p.Arg525Ter), confirming the diagnosis of MRS. Despite intensive supportive therapy, including insulin infusion, nutritional support, and management of pancreatic insufficiency, the patient developed persistent metabolic instability and progressive liver dysfunction and died on postnatal day 195.</p><p><strong>Conclusions: </strong>This case highlights MRS in an extremely low birth weight preterm infant and underscores the severe metabolic instability associated with truncating <i>RFX6</i> mutations. Early recognition and genetic diagnosis are essential for appropriate management and genetic counseling.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"933-938"},"PeriodicalIF":1.0,"publicationDate":"2026-06-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148304556","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":"Diverse clinical spectrum of Niemann-Pick C: insights from a single center.","authors":"Hacer Basan, Berrak Bilginer Gürbüz, Aynur Küçükcongar Yavaş, Mehmet Gündüz, Serpil Dinçer, Ayşenur Engin Erdal, Didem Ardiçli, Güzin Cinel, Rıdvan Murat Öktem, Çiğdem Seher Kasapkara","doi":"10.1515/jpem-2026-0131","DOIUrl":"10.1515/jpem-2026-0131","url":null,"abstract":"<p><strong>Objectives: </strong>Niemann-Pick disease type C (NPC) is a lysosomal lipid trafficking disorder characterized by impaired intracellular cholesterol transport, resulting in progressive neurovisceral involvement. While neurological progression has been extensively described, metabolic biomarkers and lipid abnormalities may provide earlier diagnostic clues, particularly in high-consanguinity populations.</p><p><strong>Methods: </strong>We retrospectively evaluated 14 genetically confirmed NPC patients followed at a tertiary pediatric metabolic center between 2018 and 2025. Clinical presentation, biochemical parameters including HDL cholesterol and lysosphingolipids (LysoSM, LysoSM-509), neuroimaging findings, and molecular genetic results were systematically reviewed.</p><p><strong>Results: </strong>The cohort (eight males, six females; age range: 9 days-24 years) demonstrated marked phenotypic heterogeneity, including neonatal cholestasis (29 %), pulmonary-dominant disease (29 %), juvenile neurodegeneration (64 %), psychiatric-onset presentation (14 %), and inflammatory bowel disease-like colitis. Low HDL cholesterol was observed in 86 % of patients. LysoSM-509 was elevated in all cases, irrespective of phenotype, supporting its diagnostic robustness. Eleven patients carried <i>NPC1</i> variants and three carried <i>NPC2</i> variants, including several novel truncating pathogenic variants. Marked intrafamilial variability was observed among siblings with identical genotypes. Miglustat treatment appeared to be associated with clinical stabilization in some patients, particularly when initiated at earlier stages of neurological involvement; however, given the limited sample size, no definitive conclusions can be drawn.</p><p><strong>Conclusions: </strong>NPC should be considered across a broad clinical spectrum, ranging from prenatal presentations such as non-immune hydrops fetalis to adult-onset psychiatric manifestations, as well as neurological involvement at all ages. It should also be suspected in patients presenting with cholestasis, hepatosplenomegaly, developmental delay, interstitial lung disease, or treatment-refractory IBD-like colitis. LysoSM-509 is a highly sensitive biomarker across phenotypes. High consanguinity facilitates early cascade screening but also reveals substantial genotype-phenotype variability. Early biomarker-driven testing remains critical for timely diagnosis and management.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"902-909"},"PeriodicalIF":1.0,"publicationDate":"2026-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148298808","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":"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}