Journal of Pediatric Endocrinology & Metabolism最新文献

{"title":"Diabetes distress, depression, and future glycemic control among adolescents with type 1 diabetes.","authors":"Cecilia P Damilano, K Ming Chan Hong, Bethany A Glick, Manmohan K Kamboj, Robert P Hoffman","doi":"10.1515/jpem-2024-0524","DOIUrl":"https://doi.org/10.1515/jpem-2024-0524","url":null,"abstract":"<p><strong>Objectives: </strong>Increased diabetes distress and depression in adolescents with type 1 diabetes (T1D) are associated with poor glycemic control but it is not known whether they predict future glycemic control.</p><p><strong>Methods: </strong>Patient Health Questionnaire (PHQ-9) and Problem Areas in Diabetes-Teen version (PAID-T) scores were given to 275 adolescents (age 13-17 years) with T1D. Robust rank order multivariate regression analysis was used to assess how age, duration of diabetes diagnosis, HbA1C at screen, PHQ-9 score, PAID-T screen, and insurance status predicted HbA1C at 1, 2, and 3 years after, and the changes in HbA1C over time.</p><p><strong>Results: </strong>HbA1c and changes in HbA1c after one year were related to baseline HbA1c. At 2 and 3 years HbA1c was related to the initial HbA1C [β: 0.64 (95 % CI 0.53-0.75) and β: 0.47 (95 % CI 0.33-0.61), respectively], and to PHQ9 at screening [β: 0.07 (95 % CI 0.01-0.14) and β: 0.11 (95% CI 0.03-0.18), respectively]. Relationships were also demonstrated between PHQ9 and changes HbA1c after 2 and 3 years [β: 0.07 (95% CI 0.01-0.14) and β: 0.11 (95 % CI 0.03-0.18), respectively]. PAID-T score was not related to future glycemic control or changes in glycemic control at any time. Insurance status (private 1, public 2) also predicted future glycemic control and changes in HbA1C at 1, 2, and 3 years too.</p><p><strong>Conclusions: </strong>Higher PHQ9 scores and public insurance predict worsening glycemic control over 3 years in adolescents with T1D while increased diabetes distress does not.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143460472","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Evinacumab as an adjunct to lipid apheresis in an infant with homozygous familial hypercholesterolemia.","authors":"Christian Stirnkorb, Verena Ney, Carsten Bergmann, Martin Bald","doi":"10.1515/jpem-2024-0505","DOIUrl":"https://doi.org/10.1515/jpem-2024-0505","url":null,"abstract":"<p><strong>Objectives: </strong>Investigation of the efficacy of the angiopoietin-like protein 3 (ANGPTL3) antibody evinacumab in a four-year-old infant with homozygous familial hypercholesterolemia (HoFH) as an adjunct to lipid apheresis.</p><p><strong>Case presentation: </strong>A two-year-old boy was found to have xanthomas of the Achilles tendon and LDL cholesterol levels around 900 mg/dL. HoHF was subsequently confirmed by molecular genetics. At the age of three, lipid apheresis was started twice a week. At the age of four, a four-weekly infusion of evinacumab was started. This resulted in a 67 % reduction in LDL cholesterol before apheresis, allowing the frequency of apheresis to be reduced to once a week. The mean LDL concentration fell by a further 37 % despite the reduction in apheresis. With the addition of ezetimibe, the mean LDL concentration was reduced to below 115 mg/dL.</p><p><strong>Conclusions: </strong>The administration of evinacumab can significantly lower the concentration of LDL cholesterol in infants and thus reduce the frequency of lipid apheresis.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-02-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143460474","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Assessing the efficacy of a hybrid closed loop system in a racial-ethnic minority cohort of children and adolescents with type 1 diabetes.","authors":"Andrea Granados, Juliana Orrego Castellanos, Andrea Martinez Sanchez, Maria Jose Giraldo, Adriana Carrillo-Iregui","doi":"10.1515/jpem-2024-0535","DOIUrl":"https://doi.org/10.1515/jpem-2024-0535","url":null,"abstract":"<p><strong>Objectives: </strong>Despite improved outcomes in the use of a hybrid closed loop system (HCLS), significant disparities in the application of this technology exist among youth with type 1 diabetes (T1DM). The study aimed to evaluate the impact of a tubeless HCLS on glycemic outcomes in a pediatric racial-ethnic minority population.</p><p><strong>Methods: </strong>A retrospective, single-center study included youth with T1D initiating HCLS Omnipod 5. Outcomes included HbA1c, continuous glucose monitor variables, BMI Z score, and episodes of diabetic ketoacidosis (DKA). Outcomes were compared from baseline, 3 and 6 months of Omnipod 5 start.</p><p><strong>Results: </strong>The study included 174 participants, aged between 2 and 22 years, with a mean age of 7.9 ± 3.7 years. Hispanics constituted 87.3 % (152) of the cohort, with 53 % males and 47 % females. Insurance coverage was 56.9 % public, 42.5 % private, and 0.5 % uninsured. Baseline HbA1c level was 8.0 % ± 1.7, 7.3 % ± 1.1 at 3 months and 7.3 % ± 1.1 at 6 months (p<0.001). Glucose time in range (TIR) was 54.5 % at baseline to 61.9 % at 3 months, and 60.5 % at 6 months (p<0.001). Notably, there were no changes in BMI z-scores or DKA episodes following the initiation of the HCLS Omnipod 5.</p><p><strong>Conclusions: </strong>The study showed that a tubeless HCLS significantly improved glycemic control in a pediatric minority cohort with T1DM, without affecting BMI Z-scores or increasing DKA episodes. Ongoing efforts to address disparities in diabetes technology access are crucial for optimizing care and alleviating the burden on individuals with T1DM across racial backgrounds.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143434143","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"DNA ligase IV deficiency identified in a patient with hypergonadotropic hypogonadism: a case report.","authors":"Deniz Yasar, Abdullah Sezer, Caner Aytekin, Gülin Karacan Küçükali, Beyhan Özkaya Dönmez, Aslıhan Araslı Yılmaz, İclal Okur, Behiye Sarıkaya Özdemir, Erdal Kurnaz, Melikşah Keskin, Şenay Savaş Erdeve","doi":"10.1515/jpem-2024-0510","DOIUrl":"https://doi.org/10.1515/jpem-2024-0510","url":null,"abstract":"<p><strong>Objectives: </strong>DNA ligase IV (LIG4) deficiency is a rare autosomal recessive disorder associated with impaired DNA damage-response mechanisms. LIG4 deficiency exhibits a broad clinical spectrum, including microcephaly, facial abnormalities, sensitivity to ionizing radiation, ranging from severe combined immunodeficiency to normal immune function, progressive bone marrow failure, and predisposition to malignancy.</p><p><strong>Case presentation: </strong>We report an 18-year-old girl of consanguineous Turkish parents, first evaluated at 13 years old for growth retardation and short stature. She was born preterm at 32 weeks with dysmorphic facial features, lissencephaly, intellectual disability, and without immunodeficiency. Although diagnosed with growth hormone deficiency, she did not receive appropriate hormone therapy due to special circumstances. At the age of 15, she presented with primary amenorrhea. Further evaluation revealed hypergonadotropic hypogonadism due to gonadal failure. Genetic analysis revealed a homozygous c.2440C>T (p.Arg814Ter) mutation in the LIG4 gene. Following genetic counseling, her parents opted for prenatal diagnosis in a subsequent pregnancy, resulting in the birth of another child with the same condition.</p><p><strong>Conclusions: </strong>LIG4 syndrome should be considered in the differential diagnosis of cases with growth retardation, microcephaly, and gonadal failure. In the literature, there are limited cases reported with gonadal failure in LIG4 syndrome. Here, we emphasize this aspect to highlight its significance.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143426533","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Influence of excess weight on metabolic risk factors in Argentinian preschool children.","authors":"Agustina Malpeli, Virginia Stallings, Marisa Sala, María Victoria Fasano, Ana Varea, Liliana Disalvo, Natalia Matamoros, Andrea Tournier, Horacio F Gonzalez","doi":"10.1515/jpem-2024-0513","DOIUrl":"https://doi.org/10.1515/jpem-2024-0513","url":null,"abstract":"<p><strong>Objectives: </strong>Evaluate the differences in metabolic risk factors in preschool children with normal weight (NWG) or with some degree of excess weight (OWG).</p><p><strong>Methods: </strong>Body mass index (BMI), umbilical waist circumference (WC), mid-upper arm circumference (MUAC) and total body fat (TBF) in children aged 1-5.9 years. The following metabolic risk factors were measured: blood pressure, fasting glycaemia, fasting serum insulin, HOMA IR Index, total cholesterol (TC), LDL cholesterol (LDL-C) HDL cholesterol (HDL-C) and triacylglycerol (TG).</p><p><strong>Results: </strong>In population evaluated (n:689) MUAC, WC, TBF, HOMA IR were higher in OWG compared to NWG and significantly higher in OWG girls compared to boys (two ways ANOVA). Positive associations were found between diastolic blood pressure, insulin and HOMA IR and WC, MUAC, TBF, BMI z score in the adjusted and unadjusted model.</p><p><strong>Conclusions: </strong>MUAC may emerge as an indicator with predictive power for metabolic risk and would be very useful to measure in many setting. There is a need for in-depth research into sex difference.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143426536","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Is oxytocin related to psychiatric symptoms in adolescents with obesity?","authors":"Gonca Özyurt, Gönül Çatlı, Sezer Acar, Gülten Cingöz, Dua Özsoylu, Tuncay Küme, Sefa Kızıldağ, Bumin Nuri Dündar, Yusuf Öztürk, Ezgi Karagöz Tanıgör, Ali Evren Tufan, Ayhan Abaci","doi":"10.1515/jpem-2024-0583","DOIUrl":"https://doi.org/10.1515/jpem-2024-0583","url":null,"abstract":"<p><strong>Objectives: </strong>We aimed to investigate the relation of oxytocin receptor (<i>OXTR</i>) gene variants (<i>rs53576</i> and <i>rs2254298</i>) and serum oxytocin (OXT) levels with psychiatric symptoms in healthy adolescents and adolescents with obesity.</p><p><strong>Methods: </strong>A total of 250 adolescents with obesity and 250 healthy adolescents were included in this study. Attachment properties, anxiety, and depression were evaluated with self-reports while diagnoses were ascertained with KIDDIE-SADS-PL Turkish version. Serum OXT level was studied with the ELISA method, and <i>OXTR</i> gene variants were studied by quantitative polymerase chain reaction (<i>rs53576</i>) and restriction fragment length polymorphism (RFLP) (<i>rs2254298</i>) methods.</p><p><strong>Results: </strong>Serum OXT level was significantly lower in adolescents with obesity than in healthy controls. Self-reported symptoms of anxiety and depression were significantly elevated, especially in female adolescents with obesity, whereas parent/peer attachment was significantly lower. The <i>rs53576 G/G</i> genotype was found to be significantly more prevalent among obese youth. About 29.2 % of obese youth were diagnosed with psychopathology, especially anxiety and depression. OXT levels and receptor polymorphisms were not related to self-reported symptoms, attachment, and presence of psychopathology.</p><p><strong>Conclusions: </strong>Further studies should evaluate the roles of other constructs (e.g., early adversity, parenting, social supports, coping, temperament, etc.) and discern the roles of parent-child synchrony in elucidating relationships between OXT, pediatric obesity, and psychopathology.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143426539","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical and laboratory characteristics of propionic acidemia in a Turkish cohort.","authors":"Halil Tuna Akar, Ayça Burcu Kahraman, Yılmaz Yıldız, Berat Baran, Kısmet Çıkı, Turgay Coşkun, Didem Yücel Yılmaz, Rıza Köksal Özgül, Hayrettin Hakan Aykan, Ali Dursun, Serap Sivri, Ayşegül Tokatlı","doi":"10.1515/jpem-2024-0366","DOIUrl":"https://doi.org/10.1515/jpem-2024-0366","url":null,"abstract":"<p><strong>Objectives: </strong>Propionic acidemia (PA) is an autosomal recessive multisystem disorder caused by the deficiency of propionyl-CoA carboxylase, encoded by <i>PCCA</i> and <i>PCCB</i> genes. This retrospective study presents the clinical and laboratory characteristics of PA patients followed up in our center.</p><p><strong>Methods: </strong>Included in the study were 50 patients diagnosed in a single center with propionic acidemia between 1984 and 2020, whose electronic and written hospital records regarding demographic, clinical, and laboratory features, along with diagnostic and therapeutic approaches, were reviewed retrospectively.</p><p><strong>Results: </strong>This cohort had a median age at diagnosis of 18 days and 91.1 % (n=41) were born at term. Consanguinity was notably prevalent (91.1 %), and a family history of PA was reported in 14 % of cases. No significant relationships were observed between clinical and laboratory parameters and mortality. Laboratory findings at the time of diagnosis revealed significant metabolic abnormalities, including low levels of free carnitine, elevated C3 propionyl carnitine, and varied amino acid imbalances. Twenty-three patients exhibited developmental delay and/or intellectual disability. Brain magnetic resonance imaging unveiled white matter involvement and ventricular dilatation in 9/25 patients. Furthermore, dilated cardiomyopathy (26 %) was noted in patients who had cardiac assessments. Among the study cohort, 27 patients survived, 23 patients died during follow-up. No significant relationships were observed between clinical and laboratory parameters and mortality.</p><p><strong>Conclusions: </strong>Despite improvements in the understanding of the pathophysiology and advances in diagnostic and treatment approaches, propionic acidemia and its long-term complications can still lead to severe consequences. This comprehensive evaluation offers valuable insights into the multifaceted nature of PA.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-02-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143426470","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Associations between body mass index and sleep duration in Brazilian children and adolescents: the moderating role of screen time.","authors":"Leticia Borfe, Ana P Sehn, Cézane Priscila Reuter, Jorge Mota, Ryan Donald Burns, Caroline Brand, Anelise R Gaya","doi":"10.1515/jpem-2024-0302","DOIUrl":"https://doi.org/10.1515/jpem-2024-0302","url":null,"abstract":"<p><strong>Objectives: </strong>To verify the moderating role of screen time in the relationship between body mass index (BMI) and sleep duration in children and adolescents.</p><p><strong>Methods: </strong>This cross-sectional study involved 1,338 children and adolescents (aged 6-17 years old; 761 girls) recruited from a municipality in south Brazil. Body weight and height were assessed to calculate BMI. Information regarding screen time, sleep duration, age, sex, sexual maturation, housing area, and socioeconomic status was obtained through a self-reported questionnaire. Moderation was tested using multiple linear regression modelling through an SPSS program extension. All models were adjusted for sex, age, sexual maturation, housing area, and socioeconomic status.</p><p><strong>Results: </strong>No association was found between BMI and sleep duration (β=0.830; 95 % CI=-0.943; 2.603). However, when the role of screen time was considered, it was observed that this variable significantly moderated the relationship between BMI and sleep duration (β=-0.006; 95 % CI=-0.011; -0.001). Specifically, children and adolescents who spent more than 360 min per day in front of the screens presented higher BMI and shorter sleep durations.</p><p><strong>Conclusions: </strong>The more time children and adolescents spend in front of screens, the higher the likelihood it will negatively affect their BMI and sleep duration. These findings emphasize the need for interventions that promote healthy screen habits and encourage behaviors that support optimal sleep duration to mitigate the potential negative effects on body weight and overall health.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-02-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143411366","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The impact of the COVID-19 pandemic on DKA severity in Black and White pediatric patients.","authors":"Shrina Patel, Elyzabeth Amador, Jonathan M Fischell, Erin Bewley, Kaitlin Jeffries, Paula G Newton, Stefanie Zaner Fischell","doi":"10.1515/jpem-2024-0526","DOIUrl":"https://doi.org/10.1515/jpem-2024-0526","url":null,"abstract":"<p><strong>Objectives: </strong>Diabetic ketoacidosis (DKA) is a complication of uncontrolled diabetes mellitus, with a known increase in severity and incidence during the COVID-19 pandemic. Our institution also observed a rise in pediatric DKA cases in our largely underserved patient population. We hypothesized that the impact would be more pronounced in Black patients due to prepandemic healthcare inequities.</p><p><strong>Methods: </strong>To investigate this, we confirmed the increased number of severe DKA cases in our pediatric patients during the pandemic and then stratified data to compare laboratory values between Black and White patients. We analyzed patients with a DKA diagnosis admitted to our institution's pediatric intensive care unit (PICU) prior to the pandemic (March 2016 to December 2017) and during its peak (March 2020 to December 2021).</p><p><strong>Results and conclusions: </strong>Our data demonstrated more cases of severe DKA overall during 2020-2021 and when compared to prepandemic years, a statistically significant increase in severity for Black, but not White patients.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143257313","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Insights in non-CAH pediatric primary adrenal insufficiency: a single-center experience from India.","authors":"Aaditya Daga, Manjiri Karlekar, Anurag Lila, Vijaya Sarathi, Anima Sharma, Saba Samad Memon, Rohit Barnabas, Virendra Patil, Hemangini Thakker, Nalini Shah, Tushar Bandgar","doi":"10.1515/jpem-2024-0476","DOIUrl":"https://doi.org/10.1515/jpem-2024-0476","url":null,"abstract":"<p><strong>Objectives: </strong>Pediatric primary adrenal insufficiency (PAI) etiologies beyond congenital adrenal hyperplasia (CAH) show regional variations. Given limited data from India, this study aims to describe the etiological profile, phenotype, and genotype of pediatric PAI in an Indian cohort.</p><p><strong>Methods: </strong>We conducted a retrospective review of patients with PAI onset before 20 years of age from 1998 to 2023 at a single center. After excluding patients with inadequate data (n=20), CAH (n=218), and bilateral adrenalectomy (n=19), we analyzed demographic, clinical, biochemical, and genetic data of the remaining patients.</p><p><strong>Results: </strong>Among 54 patients (45 probands), the median age at presentation was 6 years (range 0.1-19). Common clinical features included hyperpigmentation (90.7 %), adrenal crisis (33.3 %), and seizures (29.6 %). Mineralocorticoid deficiency was present in two-third patients including one patient each with <i>AAAS</i>, <i>MRAP</i>, and <i>NNT</i> mutation. Adrenoleukodystrophy (ALD) was the most common cause (40 %), followed by ACTH resistance states (20 %), early steroidogenic defects (13.3 %), congenital adrenal hypoplasia (11.1 %), autoimmune causes (8.9 %), and tuberculosis (4.5 %). Genetics diagnosed 14/15 patients without phenotypic clues and confirmed diagnoses in 21 tested of 30 with phenotypic pointers (alacrimia in <i>AAAS</i>, hypoparathyroidism/candidiasis in autoimmune polyendocrine syndrome-1 and neurodeficit in ALD). Genetics differentiated <i>CYP11A1</i> mutation from suspected ALD in two siblings with neurological deficits. We identified seven novel gene variants. We report the first case of <i>NNT</i> associated with 46,XY gonadal dysgenesis. Adrenal tuberculosis was a unique cause of pediatric PAI.</p><p><strong>Conclusions: </strong>This study reveals diverse non-CAH pediatric PAI etiologies in India, emphasizing genetic testing's importance for precise diagnoses and suggests region-specific diagnostic algorithm.</p>","PeriodicalId":50096,"journal":{"name":"Journal of Pediatric Endocrinology & Metabolism","volume":" ","pages":""},"PeriodicalIF":1.3,"publicationDate":"2025-02-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143081897","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}