Journal of pediatric endocrinology & metabolism : JPEM最新文献

{"title":"46,XY differences of sex development in pontocerebellar hypoplasia type 7 (PCH7): two case reports and systematic review.","authors":"Shaila Sanjay Pachapure, Akshay Kalavant B, Santosh B Kurbet, Vijaya Sarathi","doi":"10.1515/jpem-2025-0626","DOIUrl":"10.1515/jpem-2025-0626","url":null,"abstract":"<p><strong>Objectives: </strong>We report two cases of 46,XY siblings with pontocerebellar hypoplasia type 7 (PCH7) and conduct a systematic literature review for genetically confirmed PCH7 cases, focusing on phenotypic characteristics, particularly gonadal parameters, and associated genotypic data.</p><p><strong>Case presentation: </strong>Two 46,XY siblings diagnosed with PCH7 were reviewed. Both exhibited hypoplastic male external genitalia, absent uterus, and cryptorchid testes, confirmed through histological assessments showing dysgenesis. A systematic literature search revealed an additional 26 cases of 46,XY PCH7, with neurological involvement noted in all cases except one. The external genitalia were described as abnormal (17/23); however, few of these were hypoplastic male type on pictorial review. Nonlocalized testes (5/5) and absent uterus (4/7) on ultrasonography, elevated FSH (7/7), and low testosterone (3/3) were observed. Besides a novel variant (p.Ile133Thr) in Indian siblings, a total of 25 variants in TOE1 were identified with no specific genotype-phenotype correlation.</p><p><strong>Conclusions: </strong>Testicular development was defective in all PCH7 patients but was variable, with the predominant phenotypic manifestation being testicular regression syndrome/partial gonadal dysgenesis with Müllerian duct regression (TRS/PGD-MDR).</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"490-498"},"PeriodicalIF":1.0,"publicationDate":"2026-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147477922","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":"Volumetric MRI assessment of brain and pituitary structure in girls with central precocious puberty.","authors":"Safa Özyılmaz, Leyla Gizem Bolaç Özyılmaz, Deniz Çeliker, Fatma Dursun, Sevinç Taşar","doi":"10.1515/jpem-2025-0725","DOIUrl":"10.1515/jpem-2025-0725","url":null,"abstract":"<p><strong>Objectives: </strong>To compare global and regional brain volumes and pituitary morphology between girls with central precocious puberty (CPP) and age-matched controls using intracranial-volume (ICV)-adjusted magnetic resonance imaging (MRI), and to assess associations between gonadotropins and brain volumetry.</p><p><strong>Methods: </strong>This retrospective study included 182 girls (CPP n=91; controls n=91; age 6-9 years at MRI acquisition). Brain MRI (1.5 T) was segmented using the volBrain pipeline, and global and regional volumes were normalized to ICV. Pituitary height and volume were measured by two blinded radiologists. Group differences were analyzed with Welch <i>t</i>-tests; ANCOVA was applied for age and ICV adjustment. Multiple comparisons were FDR-corrected. Correlations with basal and GnRH-stimulated LH were evaluated using Spearman analysis.</p><p><strong>Results: </strong>CPP patients had more advanced pubertal staging, higher height SDS, and greater pituitary height, while pituitary volume was similar. Global intracranial and total brain volumes did not differ. The WM/ICV fraction was modestly lower in CPP, whereas GM/ICV and CSF/ICV fractions were comparable. No regional brain volumes remained significant after FDR correction. In the stimulation-test subgroup, higher peak LH correlated with smaller total-brain/ICV and cerebrum/ICV fractions and with greater CSF/ICV.</p><p><strong>Conclusions: </strong>After adjusting for age and intracranial volume, CPP showed preserved global and regional brain structure. Modest WM reduction and LH-related shifts in brain-CSF distribution suggest subtle hormonally mediated differences in maturational timing. This study provides the largest ICV-normalized volumetric MRI dataset in CPP.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"324-331"},"PeriodicalIF":1.0,"publicationDate":"2026-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147477080","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":"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-2025-0672","DOIUrl":"10.1515/jpem-2025-0672","url":null,"abstract":"<p><p>Transition readiness interventions support the health and independence of adolescents and young adults (AYAs) with type 1 diabetes (T1D) as they move from pediatric to adult healthcare. A theoretical model of transition readiness emphasizes the importance of family and culture in AYA disease management. Yet, it remains unclear how family and culture are currently incorporated into T1D transition readiness interventions and how such factors may support AYAs during this transition. This mini review summarizes the literature and its gaps regarding family and culture in T1D transition interventions to assist in the continued refinement of such interventions. Of the 524 articles reviewed, only 16 met inclusion criteria (e.g., about T1D transition readiness intervention, discusses family or cultural factors). Six (37.5 %) T1D transition interventions involved a family component alone, four (25 %) incorporated cultural components alone, and six (37.5 %) included both a cultural and a family component. The level of caregiver involvement in these interventions ranged from none to caregiver-specific materials or education. Although culture was considered in multiple interventions, only one directly addressed family/cultural values. Future interventions should consider how to adapt transition readiness interventions to AYA and familial cultural beliefs, thereby optimizing AYA diabetes self-management behaviors and independence during transition to adult care.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"315-323"},"PeriodicalIF":1.0,"publicationDate":"2026-03-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13092464/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147477919","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Association of <i>MC4R</i> rs17782313 and multi-locus genetic variants with metabolic syndrome in Northern Vietnamese children aged 6-11 years: an exploratory study.","authors":"Thi Hong Hanh Nguyen, Quang Binh Tran, Thi Nhung Bui, Thi Anh Dao Duong, Thi Tuyet Le","doi":"10.1515/jpem-2025-0729","DOIUrl":"10.1515/jpem-2025-0729","url":null,"abstract":"<p><strong>Objectives: </strong>Metabolic syndrome (MetS) is a multifactorial disorder associated with increased cardiometabolic risk. This exploratory study aimed to investigate the associations between five candidate single nucleotide polymorphisms (SNPs) and their haplotypes with MetS in children aged 6-11 years from Northern Vietnam.</p><p><strong>Methods: </strong>A total of 547 children aged 6-11 years were included, comprising 39 children with MetS and 508 controls. MetS was defined using age-specific criteria based on modified International Diabetes Federation and National Cholesterol Education Program definitions. Genotyping of <i>APOE</i>-rs429358, <i>APOE</i>-rs7412, <i>FTO</i>-rs6499640, <i>MC4R</i>-rs17782313, and <i>TMEM18</i>-rs6548238 was performed using polymerase chain reaction-restriction fragment length polymorphism analysis. Multivariable logistic regression adjusted for age, sex, and region was applied.</p><p><strong>Results: </strong><i>MC4R</i>-rs17782313 showed a significant associated with MetS. Under the recessive model, the C/C genotype was associated with increased MetS likelihood after adjustment (OR=2.28, p=0.005). A log-additive association was also observed (OR=2.03, p=0.014). No significant associations were detected for the other SNPs. Haplotype analysis suggested that three five-locus combinations were associated with higher MetS risk compared with the most common haplotype (T-C-G-T-C) (all p<0.05).</p><p><strong>Conclusions: </strong>These findings suggest that <i>MC4R</i> rs17782313 may contribute to MetS susceptibility in this population. Given the limited number of MetS cases, results should be interpreted cautiously and require validation in larger pediatric cohorts and mechanistic studies.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"356-365"},"PeriodicalIF":1.0,"publicationDate":"2026-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147477933","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":"Bone age advancement in non-obese children with premature adrenarche: relationship to growth acceleration and predicted adult height outcomes.","authors":"Nurdan Çiftci, Abdulgani Gülyüz","doi":"10.1515/jpem-2025-0695","DOIUrl":"10.1515/jpem-2025-0695","url":null,"abstract":"<p><strong>Objectives: </strong>Premature adrenarche (PA) is commonly associated with bone age (BA) acceleration, but it is difficult to assess the independent contribution of adrenal androgens to skeletal maturation in studies that include obese children. This study examined BA advancement in non-obese children with PA and evaluated predicted adult height (PAH) estimates in this population.</p><p><strong>Methods: </strong>The medical records of children diagnosed with PA between April 2022 and April 2023 were reviewed retrospectively. Children who were obese, had congenital adrenal hyperplasia, central precocious puberty, genetic or syndromic disorders affecting growth, or were small for their gestational age were excluded. Anthropometric, hormonal, and radiological data were collected. BA was assessed using the Greulich-Pyle standards, and PAH was calculated using the Bayley-Pinneau method. Analyses were designed to evaluate associations rather than causal relationships.</p><p><strong>Results: </strong>Eighty-four non-obese children with PA (85.7 % female; mean age 7.41 ± 0.67 years) were included. The mean BA-CA difference was 0.59 ± 0.96 years. Children with a BA-CA difference of ≥1 year had significantly higher height SDS and BA (p<0.001), whereas serum DHEA-S levels did not differ across BA-CA groups. BA-CA was positively associated with height SDS and negatively associated with PAH SDS relative to current height SDS. In multivariable analyses, height SDS showed an independent association with BA advancement, whereas serum DHEA-S did not.</p><p><strong>Conclusions: </strong>In non-obese children with PA, BA advancement appears to be more closely associated with linear growth status than with circulating DHEA-S concentrations within the constraints of this study design. In most patients, predicted adult height remained within the genetic target range; however, approximately 20 % had PAH values below their mid-parental height. Longitudinal studies incorporating final adult height measurements and comprehensive hormonal profiling are required to clarify long-term growth outcomes.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"349-355"},"PeriodicalIF":1.0,"publicationDate":"2026-03-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147477950","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":"<i>LRP5</i>-related primary osteoporosis: phenotypic spectrum and treatment response to zoledronic acid.","authors":"Chamila Balagamage, Proteek Sen, Nicola Crabtree, Denise Williams, Suma Uday","doi":"10.1515/jpem-2025-0652","DOIUrl":"10.1515/jpem-2025-0652","url":null,"abstract":"<p><strong>Objectives: </strong>Lipoprotein receptor-related protein-5 (<i>LRP5</i>)-related disorders are characterized by variably reduced vision and juvenile osteoporosis due to loss-of-function mutations in the low-density <i>LRP5</i> gene. Compelling evidence on effectiveness of bisphosphonate treatment in these disorders remains limited. We aimed to describe the phenotypic spectrum and clinical, densitometric, and fracture outcomes following zoledronate therapy in children with <i>LRP</i>5-related disorders.</p><p><strong>Case presentation: </strong>Five patients (P1-P5), referred at a median age of 9 years for recurrent low-impact fractures with confirmed <i>LRP5</i> mutations, were included. P1-P3 were siblings with a homozygous c.1259 G>Cp.(Gly420Ala), variant of likely pathogenic. P4 carried compound heterozygous mutations for three sequence variants, including novel pathogenic variants c.2449 C>T p.(Arg817Cys), and c.362A>Gp.(Lys121Arg), and P5 had a heterozygous c.4502C>Tp.(Pro1501Leu) variant, also identified in the mother, a variant of uncertain significance (VUS). Four patients (P2-P5) received zoledronate for a median duration of 2 years (range 1.5-11 years). Post-treatment, P2, P3, and P5 showed improvements in lumbar spine (LS) Bone Mineral Apparent Density (BMAD) Z-scores (+1.0, +0.7, and +2.7 respectively), remaining fracture-free. P4 exhibited an increase in LS BMAD (+0.3) and vertebral remodeling.</p><p><strong>Conclusions: </strong><i>LRP</i>5-related disorders should be considered in patients with recurrent fractures and visual involvement. Zoledronate appears effective in improving bone density, reducing fracture frequency, and promoting vertebral remodeling, although further studies are required to determine optimal treatment duration.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"499-507"},"PeriodicalIF":1.0,"publicationDate":"2026-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147477958","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":"Pediatric thyroid cancer lung metastases and RAI: long-term results.","authors":"Ryan C Mueller, Nikhil Rammohan, Anthony J Apicelli, Ana Maria Arbelaez, Farrokh Dehdashti, Barry A Siegel, Vikas Prasad, Perry W Grigsby, Stephanie Markovina","doi":"10.1515/jpem-2025-0647","DOIUrl":"10.1515/jpem-2025-0647","url":null,"abstract":"<p><strong>Objectives: </strong>Children with differentiated thyroid cancer (DTC) often present with lung metastases but historically have good outcomes. Radioactive iodine (RAI) is commonly used to treat these children. Given the rarity of this condition, little evidence detailing long-term outcomes and risk of radiation pneumonitis exists.</p><p><strong>Methods: </strong>We conducted a retrospective analysis of patients <20 years old who received RAI for DTC lung metastases between 1973 and 2018. Disease-free survival (DFS) was calculated from diagnosis to last follow-up. Overall survival and rates of acute and late radiation pneumonitis were determined by chart review and obituary searches.</p><p><strong>Results: </strong>Sixteen patients met eligibility criteria. Fourteen presented with thyroid, nodal, and lung disease; one presented with thyroid and nodal disease with nodal and lung recurrence; and one presented with thyroid-only disease with nodal and lung recurrence. All patients underwent thyroidectomy, 10 underwent neck dissection, and four underwent lymph node excision. Median per-treatment and cumulative RAI dose were 100 mCi (20-270 mCi) and 340 mCi (25-970 mCi), respectively. Median follow-up was 13 years (1-32 years). Fifteen patients (88.2 %) were alive at last follow-up. Twelve had no evidence of disease, two had improved but persistent I-131 uptake within lungs and surgical bed, and one had improved but persistent lung metastases alone. No evidence of symptomatic radiation pneumonitis was evident in the medical records of these patients.</p><p><strong>Conclusions: </strong>Patients <20 with DTC lung metastases have high survival following thyroidectomy and RAI treatment and apparently low rates of radiation pneumonitis despite high cumulative doses.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"332-341"},"PeriodicalIF":1.0,"publicationDate":"2026-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147477954","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":"<i>GATA4</i> gene variants in 46,XY differences of sex development: report of four cases and literature review.","authors":"Maria Mansó Borràs, Cristina Pellicer Viudes, Carmen De Mingo Alemany, Sara León Cariñena, Teresa Jaijo Sanchis, Francisca Moreno Macián","doi":"10.1515/jpem-2025-0612","DOIUrl":"10.1515/jpem-2025-0612","url":null,"abstract":"<p><strong>Objectives: </strong>46,XY differences of sex development (DSD) comprise a heterogeneous group of congenital conditions affecting chromosomal, gonadal or anatomical sex differentiation. <i>GATA4</i> is essential for cardiac and gonadal development, although its role in DSD is not fully understood. We report four 46,XY DSD cases with GATA4 variants from our center and performed a literature review.</p><p><strong>Case presentation: </strong>Case 1 presented with ambiguous genitalia, persistent Müllerian structures, and complex congenital heart disease; a <i>GATA4</i> variant (p.Cys239Arg) was identified, and gonadectomy revealed atrophic testes. Case 2 had penoscrotal hypospadias and a ventricular septal defect, carrying a synonymous <i>GATA4</i> variant (p.Cys275=) and showing normal hormonal evaluation and pubertal development. Case 3 presented with perineal hypospadias and a <i>GATA4</i> variant (p.Val305Ile), along with a maternally inherited <i>RET</i> mutation; his twin brother, carrying the same variants, had no DSD. Both exhibited spontaneous puberty. Case 4 presented with isolated hypospadias and a <i>GATA4</i> variant (p.Arg261GLn) without cardiac anomalies.</p><p><strong>Conclusions: </strong><i>GATA4</i> should be included in genetic panels for 46,XY DSD. Our work expand the clinical and molecular spectrum of <i>GATA</i> <i>4</i>-associated 46,XY DSD and our review support the relevance of zinc finger domain variants in gonadal development. Phenotypic variability among carriers supports variable expressivity and incomplete penetrance.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"482-489"},"PeriodicalIF":1.0,"publicationDate":"2026-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147461504","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":"The prevalence of autoimmune diseases in antibody negative type 1 diabetes mellitus.","authors":"Shadi Bakjaji, Amit Lahoti, Robert P Hoffman, Leena Mamilly","doi":"10.1515/jpem-2025-0705","DOIUrl":"10.1515/jpem-2025-0705","url":null,"abstract":"<p><strong>Objectives: </strong>Type 1 diabetes mellitus (T1D) results from autoimmune destruction of pancreatic β cells. T1D individuals face increased risk of autoimmune thyroid disease (AITD) and celiac disease (CD). While most patients present with β-cell autoantibodies, 5-10 % do not and are classified as antibody-negative T1D (AB- T1D). Whether autoimmune disease risk differs between AB- and antibody-positive T1D (AB+ T1D) remains uncertain.</p><p><strong>Methods: </strong>Children aged 6 months to 18 years diagnosed with T1D between January 2010 and June 2023 were reviewed and categorized as AB+ or AB- based on islet cell antigen, insulin, and GAD-65 autoantibodies at diagnosis. Each AB- patient was matched with two age- and sex-matched AB+ controls within the diagnosis date. Chi-square testing compared CD and AITD prevalence between groups, with significance set p<0.05.</p><p><strong>Results: </strong>The study included 149 AB- and 298 AB+ subjects. CD prevalence was 5.0 % in the AB+ group and 3.4 % in the AB- group. AITD prevalence was 4.4 % in the AB+ group and 2.7 % in the AB- group. No significant differences were identified. A combined diagnosis of CD and AITD occurred only in the AB+ group (2.2 %, p=0.024). At diagnosis, AB+ patients had higher glucose and beta-hydroxybutyrate levels and lower C-peptide, while venous pH was similar.</p><p><strong>Conclusions: </strong>AITD and CD prevalence did not differ significantly between AB- and AB+ children with T1D, though coexistence of both conditions occurred only in AB+ patients. These findings suggest that AB- T1D may still involve autoimmunity and support similar surveillance strategies for autoimmune diseases in both groups.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"342-348"},"PeriodicalIF":1.0,"publicationDate":"2026-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147477935","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":"Long-term outcomes in ovotesticular DSD: insights from a single-centre Indian cohort.","authors":"Niragi Mehta, Anurag Lila, Anuj Ban, Manjiri Karlekar, Saba Samad Memon, Rohit Barnabas, Vijaya Sarathi, Nalini Shah, Tushar Bandgar","doi":"10.1515/jpem-2025-0684","DOIUrl":"10.1515/jpem-2025-0684","url":null,"abstract":"<p><strong>Objectives: </strong>Ovotesticular disorders of sex development (OT-DSD) are rare disorders that constitute ∼5 % of all DSDs. Data on long-term outcomes with respect to gender identity, gonadal malignancy, pubertal/adulthood gonadal and sexual functions are scarce.</p><p><strong>Methods: </strong>This retrospective study, reports the long-term outcomes of patients with OT-DSD from a single centre in western India.</p><p><strong>Results: </strong>Fifteen patients (14: 46XX, 1: 46XX/46XY) with atypical genitalia and diagnosed as OT-DSD (unilateral-OT with contralateral ovary: 8, bilateral-OT: 3, lateral gonads: 4) were followed up for a median duration of 8.25 (2.1-28) years. 14/15 patients underwent gonadectomy (bilateral in 4). Sex of rearing was male in 14, and none reported gender incongruence/dysphoria. Nine adult males had varied concerns, including gynecomastia (n=9), periodic hematuria (n=3), periodic abdominal pain (n=3), acute abdomen (n=1), hypogonadism requiring testosterone replacement (n=8), genitoplasty-related complications (n=3; urethral fistula in one and poor urine stream requiring intermittent catheterisation in two), short stature [median final height SDS: -2.3 (-3.0 to -0.5)]. Two males reported having sexual relationships. Overall gonadal malignancy rate was 6.6 % (1/15), it was seen in the only patient raised as female (46, XX) who presented at 20.7 years with a right adnexal mass (dysgerminoma from the ovotestes) and primary amenorrhoea. She underwent right gonadectomy and is currently on estrogen and progesterone replacement.</p><p><strong>Conclusions: </strong>Majority of patients with OT-DSD were reared as males and had a male gender identity, most had short final height and adulthood hypogonadism. Although the risk of gonadal malignancy is low, it cannot be ruled out even in 46XX karyotype. These observations will help in counselling families with affected members.</p>","PeriodicalId":520684,"journal":{"name":"Journal of pediatric endocrinology & metabolism : JPEM","volume":" ","pages":"366-371"},"PeriodicalIF":1.0,"publicationDate":"2026-03-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147477929","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}