Children-Basel最新文献

{"title":"Kinematic Changes throughout Childhood in Youth with Cerebral Palsy: Influence of Age and Orthopaedic Surgery.","authors":"Nancy Lennon, Chris Church, Daniel Wagner, Tim Niiler, John Henley, Freeman Miller, Michael Wade Shrader, Jason J Howard","doi":"10.3390/children11101240","DOIUrl":"10.3390/children11101240","url":null,"abstract":"<p><strong>Background: </strong>Abnormal gait kinematics are common in youth with cerebral palsy (CP), but prior studies have not analyzed their longitudinal change throughout childhood. This study examines how age and orthopaedic surgery influence gait kinematics throughout childhood in those with ambulatory CP.</p><p><strong>Methods: </strong>In this institutional review board-approved prospective cohort study, children with spastic CP (GMFCS I-III) were recruited at age 17-40 months. Instrumented gait analysis was performed at 3-year intervals from age 4 to 21 years, collecting longitudinal kinematic data in bare feet at a self-selected speed. The change in Gait Profile Score (ΔGPS) between each pair of gait analyses (intervals) was analyzed by age distribution (<10, 10-15, ≥15 years) and by presence/absence of orthopaedic surgery.</p><p><strong>Results: </strong>The study included 31 children (GMFCS: I [13], II [14], III [4]). A baseline instrumented gait analysis was performed at age 5.8 ± 1.6 years with subsequent analysis at 2.5 ± 1.3-year intervals. Examining ΔGPS from baseline to final outcome, 87% of limbs were improved/unchanged; 298 intervals of ΔGPS were analyzed and classified as nonsurgical or surgical. Analysis revealed greater GPS improvement in intervals with surgery versus intervals without (<i>p</i> = 0.0004). Surgical intervals had significantly greater GPS improvement in the <10- vs. >15-year-old groups, <i>p</i> = 0.0063.</p><p><strong>Conclusions: </strong>Improvement in gait kinematics in children with CP is significantly influenced by age and timing of orthopaedic surgical intervention for gait correction, and was most pronounced for children <10 years old. Although surgery was associated with improved outcomes in all age groups, these improvements were significantly less for children >10 years old. These results reinforce the importance of considering the timing of orthopaedic surgery.</p>","PeriodicalId":48588,"journal":{"name":"Children-Basel","volume":"11 10","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11505677/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142510675","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Developmental Profile of Children with Autism Spectrum Disorder Versus Social Communication Disorder: A Pilot Study.","authors":"Clara Dame, Marine Viellard, Sara-Nora Elissalde, Hugo Pergeline, Pauline Grandgeorge, Laure-Anne Garie, Federico Solla, Sonia De Martino, Elodie Avenel, Xavier Salle-Collemiche, Arnaud Fernandez, François Poinso, Elisabeth Jouve, Jokthan Guivarch","doi":"10.3390/children11101241","DOIUrl":"10.3390/children11101241","url":null,"abstract":"<p><strong>Background: </strong>Social Communication Disorder (SCD), introduced in the DSM-5, is distinguished from Autism Spectrum Disorder (ASD) by the absence of restricted and repetitive behaviors or interests (RRBIs).</p><p><strong>Aim: </strong>To compare the adaptive, sensory, communication, and cognitive profiles of children with ASD and SCD.</p><p><strong>Methods: </strong>The assessments of nine children with SCD and ten with ASD were compared with either Fisher's Exact Test or the Mann-Whitney Test. Assessments included the Vineland Adaptive Behavior Scales, the Autism Diagnostic Observation Schedule (ADOS), the Short Sensory Profile, Bishop's Children's Communication Checklist, a pragmatics evaluation, and the Wechsler Intelligence Scale for Children IV.</p><p><strong>Results: </strong>The total ADOS score and the second subtotal \"Restricted and Repetitive Behaviors\" were significantly higher (<i>p</i> = 0.022) in the ASD group than in the SCD group. The Vineland standard score for the \"Socialization\" domain was significantly lower (<i>p</i> = 0.037) in the ASD group (mean: 51 +/- 19) than in the SCD group (mean: 80 +/- 28). The working memory index score was also significantly lower (<i>p</i> = 0.013) in the ASD group compared to the SCD group.</p><p><strong>Conclusions: </strong>While ASD and SCD share similarities in communication and pragmatic difficulties, some distinctions have been identified, e.g. in executive functioning and the impact on socialization, which may be linked to the absence of RRBIs in SCD. These findings highlight the challenges posed by this nosographic separation during diagnostic evaluations due to the scarcity of discriminative tools.</p>","PeriodicalId":48588,"journal":{"name":"Children-Basel","volume":"11 10","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11506113/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142510750","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Perceived Experiences of Families of Children with Unilateral Cerebral Palsy in the Implementation of a Task-Specific Intervention in the Home Environment with an Upper Limb Splint: A Qualitative Study.","authors":"Patricia Roldán-Pérez, Vanesa Abuín-Porras, Isabel Rodríguez-Costa, María Ortiz-Lucas, Pablo Bellosta-López, Almudena Buesa-Estéllez","doi":"10.3390/children11101242","DOIUrl":"10.3390/children11101242","url":null,"abstract":"<p><strong>Introduction: </strong>Specific home tasks and the use of splints seem to positively affect altered structures and functions, as well as the activities and participation, of children with unilateral cerebral palsy (UCP). However, how did families experience the implementation of these therapies?</p><p><strong>Objective: </strong>To describe the experiences as they were perceived by the families of children with UCP before, during, and after a specific task intervention in the home environment, either with or without upper limb splinting.</p><p><strong>Methods: </strong>A qualitative, descriptive, phenomenological study was conducted in a natural environment. Fourteen families caring for children with UCP who participated in a previous randomized controlled trial were included. Data from unstructured and semi-structured interviews were analyzed through a thematic analysis.</p><p><strong>Results: </strong>Fourteen families (17 parents, age 37-47 years) caring for children with UCP (14 children, ages 6-10 years, 64% female) were interviewed. The following three themes emerged: \"The project itself\", in which families explained that they enrolled because of their trust in therapists; \"Results obtained\", where the main improvement was the integration of the assisting hand in the body schema; and \"Lights and shadows\", where families showed what they learned as positive points and some negative aspects related to the assessments and splints.</p><p><strong>Conclusions: </strong>The perceptions of the parents after the specific task intervention in the home environment showed a greater integration of the most affected side. Nevertheless, although the support of a splint on the hand can have beneficial results in terms of performance, other drawbacks leading to the disuse of the splint were highlighted.</p>","PeriodicalId":48588,"journal":{"name":"Children-Basel","volume":"11 10","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11505963/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142510709","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Clinical Utility of a Multiplex PCR Panel (BioFire Joint Infection^®) in the Adjustment of Empiric Antimicrobial Therapy: Experience in Pediatric Osteoarticular Infections.","authors":"Clara Udaondo, Rosa María Alcobendas Rueda, Blanca Diaz-Delgado, Agustin Remesal, Inmaculada Quiles-Melero, Cristina Calvo","doi":"10.3390/children11101236","DOIUrl":"10.3390/children11101236","url":null,"abstract":"<p><strong>Background/objectives: </strong>This study aims to evaluate the impact of the PCR multiplex panel (BioFire JI^®) on the diagnosis and management of pediatric osteoarticular infections.</p><p><strong>Methods: </strong>This retrospective study analyzed data from pediatric patients diagnosed with osteoarticular infections between January 2023 and April 2024. The effectiveness of the PCR multiplex panel in identifying pathogens was compared with traditional culture methods.</p><p><strong>Results: </strong>In total, 50 patients were identified (66.6% male, 74% under 3 years of age). They were diagnosed as follows: septic arthritis in 46%, osteomyelitis in 26%, and septic osteoarthritis in 22%. An identifiable agent was isolated by conventional culture in 22 cases (44%). <i>Kingella kingae</i> was the predominant pathogen identified, accounting for 50% of cases (11/22), followed by <i>Staphylococcus aureus</i> (9/22). The BioFire JI^® Panel PCR demonstrated a sensitivity of 93%, with a specificity of 63% when evaluated against synovial fluid culture as the reference standard. The panel identified seven additional pathogens not detected by conventional culture methods: 2/9 MSSA (22%), 1/1 <i>S. pyogenes</i> (100%), and 4/11 <i>K. kingae</i> (37%), increasing the yield by 14%. The rapid identification of pathogens facilitated timely and targeted therapeutic interventions.</p><p><strong>Conclusions: </strong>The PCR multiplex panel (BioFire JI^®) improved the diagnosis of pediatric osteoarticular infections.</p>","PeriodicalId":48588,"journal":{"name":"Children-Basel","volume":"11 10","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11506507/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142510741","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Obstacles to an Effective Transition to Adult Services for Patients with Hirschsprung Disease.","authors":"Joseph R Davidson, Joe Curry","doi":"10.3390/children11101237","DOIUrl":"10.3390/children11101237","url":null,"abstract":"<p><p>A growing number of patients with Hirschsprung disease are reaching adulthood, of whom a significant minority will require ongoing input from healthcare providers. In order to ensure patients receive the best care possible, it is essential to transition patients appropriately to adult services. This article describes the unmet need and some of the obstacles to this process and explores potential solutions, drawing on model examples for transitional care.</p>","PeriodicalId":48588,"journal":{"name":"Children-Basel","volume":"11 10","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11506805/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142510693","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Predictors of Social Exclusion among Adolescents: The Weight of Physical Self-Concept Dimensions.","authors":"Rosa González-Delgado, Antonio J Rodríguez-Hidalgo, Rosario Ortega-Ruiz, Juan de Dios Benítez-Sillero, Javier Murillo-Moraño","doi":"10.3390/children11101235","DOIUrl":"10.3390/children11101235","url":null,"abstract":"<p><p><b>Background:</b> Social exclusion victimization among adolescents causes significant damage and harm to development and social balance. Many of the aggressions that lead to this are based on social stigmas, particularly related to physical appearance in school settings involving physical and sports activities. This study investigates the relationship between victimization through social exclusion (both manifest and subtle forms) and physical self-concept, specifically examining ability, attractiveness, physical condition, and strength. <b>Methods:</b> A total of 876 adolescents (mean age = 14.91; standard deviation = 1.71 years), evenly divided between boys and girls, from secondary schools in Andalusia, Spain participated. They completed a self-report questionnaire assessing physical abilities, attractiveness, physical condition, and self-perceived strength, alongside an instrument measuring experiences of social exclusion and manifest exclusion. <b>Results:</b> Our findings indicate that physical ability, attractiveness, and condition are negative statistical predictors of both manifest and subtle exclusion victimization, while self-perceived strength is a statistical predictor of subtle exclusion. Manifest exclusion impacts both genders similarly, but girls are more vulnerable to subtle forms of exclusion. Regardless of gender, physical ability and attractiveness significantly predict both types of exclusion. <b>Conclusions:</b> Our results highlight the importance of physical self-concept for wellbeing and maintaining self-concept balance. The inclusion of interventions addressing social exclusion in physical education is crucial, particularly those that work to mitigate social stigmas against adolescents who struggle in physical or sporting activities. A gender-sensitive approach should also be incorporated. The growing field of research on adolescent social exclusion, both manifest and subtle, underscores the need for further exploration of its links to physical condition, physical activity, self-perception, and societal stereotypes.</p>","PeriodicalId":48588,"journal":{"name":"Children-Basel","volume":"11 10","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11505718/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142510712","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Experiences of Motor Skill Development in Children with Autism Spectrum Disorder (ASD) Reflected through Parental Responses.","authors":"Anetta Müller, Éva Bácsné Bába, Peter Židek, Attila Lengyel, Judit Herpainé Lakó, Nóra Laoues-Czimbalmos, Anikó Molnár, Eszter Boda","doi":"10.3390/children11101238","DOIUrl":"10.3390/children11101238","url":null,"abstract":"<p><p><b>Background/Objectives</b>: Understanding movement development in children with autism spectrum disorder (ASD) is critical for creating effective intervention strategies. This study aims to explore parental perspectives on the movement development of children with ASD, focusing on identifying common challenges and successful strategies. The objective is to analyze the experiences of parents to highlight the most effective approaches to support motor, communication, and social skills development in these children. <b>Methods</b>: Using a qualitative approach, we conducted in-depth interviews with parents of children with ASD. The data were analyzed using open and selective coding to identify key themes related to movement development challenges and strategies. The analysis included cross-referencing with the existing literature to support parental insights. <b>Results</b>: This study identified several key themes, including communication barriers, social interaction difficulties, and the importance of personalized movement programs. Parents reported significant challenges in understanding and addressing their children's movement needs, particularly in group settings. However, activities such as water programs, music and dance, and animal-assisted therapies were found to be highly engaging. Motivation was a critical factor, with rewards and active parental involvement enhancing participation. <b>Conclusions</b>: This study highlights the crucial role of a supportive environment, including professional guidance and family support, in the success of movement development programs.</p>","PeriodicalId":48588,"journal":{"name":"Children-Basel","volume":"11 10","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11506193/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142510792","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Childhood Hypertension: A Retrospective Analysis of Causes, Treatments, and Complications.","authors":"Mohamed S Al Riyami, Aisha Al Shuaibi, Suad Al Jardani, Asma Elfar, Anisa Al Maskari, Badria Al Gaithi, Sulaiman Al Saidi, Naifain Al Kalbani","doi":"10.3390/children11101234","DOIUrl":"10.3390/children11101234","url":null,"abstract":"<p><strong>Background: </strong>Hypertension is prevalent in the pediatric population, with estimated rates between 2% and 5%, and its incidence is rising globally. This study offers a single-center analysis of hypertension in children.</p><p><strong>Methods: </strong>a retrospective chart review was conducted involving children aged 1 month to 13 years diagnosed with hypertension.</p><p><strong>Results: </strong>The study included a total of 129 children. Secondary hypertension was identified in 103 patients (79.8%), while primary hypertension was noted in 26 patients (20.2%). Primary hypertension was more common among pre-teen children (50.0%), whereas secondary hypertension predominantly affected those aged 1 to 5 years. Renal parenchymal disease emerged as the most frequent etiology of secondary hypertension, followed by endocrine disorders and vascular issues. No significant correlation was found between hypertension and obesity. The primary complications associated with hypertension in these children were cardiovascular, followed by neurological issues. A small proportion (14.7%) managed their hypertension solely through lifestyle modifications, while the majority required additional antihypertensive medications. At the final follow-up, 50% of the children demonstrated improved blood pressure readings.</p><p><strong>Conclusion: </strong>The findings indicate a higher prevalence of secondary hypertension compared to primary hypertension among the studied population. This study underscores the necessity for heightened awareness among pediatricians regarding the early identification and management of hypertension. Larger population-based studies are warranted to further investigate the prevalence, causes, and outcomes of hypertension in this region.</p>","PeriodicalId":48588,"journal":{"name":"Children-Basel","volume":"11 10","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11505861/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142510738","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Arrhythmias May Hide a Genetic Cardiomyopathy in Left Ventricular Hypertrabeculation in Children: A Single-Center Experience.","authors":"Irma Battipaglia, Nicoletta Cantarutti, Marianna Cicenia, Rachele Adorisio, Virginia Battista, Anwar Baban, Massimo Stefano Silvetti, Fabrizio Drago","doi":"10.3390/children11101233","DOIUrl":"10.3390/children11101233","url":null,"abstract":"<p><strong>Background: </strong>Left ventricular hypertrabeculation (LVHT) is a myocardial disorder with different clinical manifestations, from total absence of symptoms to heart failure, arrhythmias, sudden cardiac death (SCD), and thromboembolic events. It is challenging to distinguish between the benign and pathological forms of LVHT. The aim of this study was to describe the arrhythmic manifestations of LVHT in a large group of pediatric patients and to correlate them with genetic results or other clinical markers.</p><p><strong>Methods: </strong>We retrospectively enrolled 140 pediatric patients with diagnosis of LVHT followed at our Institution from 2013 to 2023. Data regarding family history, instrumental exams, cardiac magnetic resonance, genetic testing and outcomes were collected. Most of them had isolated LVHT (80.7%); in other patients, mixed phenotypes (hypertrophic or dilated cardiomyopathy or congenital heart disease) were present.</p><p><strong>Results: </strong>Arrhythmias were found in 33 children (23.6%): 13 (9.3%) supraventricular tachyarrhythmias; 14 (10%) ventricular arrhythmias (five frequent PVCs (premature ventricular contractions), eight patients with ventricular tachycardia (VT), one ventricular fibrillation (VF)); two (1.4%) sinus node disfunctions; two (1.4%) complete atrio-ventricular blocks (AVB), three (2.1%) paroxysmal complete AVB, one (0.7%) severe I degree AVB. Three patients received an ICD (implantable cardioverter defibrillator). Comparison between LVHT patients with (33 pts) and without (107 pts) arrhythmias as regards genetic testing showed a statistical significance for the presence of class 4 or 5 genetic variants and arrhythmic manifestation (<i>p</i> = 0.037).</p><p><strong>Conclusions: </strong>In our pediatric cohort with LVHT, good outcomes were observed, but arrhythmias were not so rare (23.6%); no SCD occurred.</p>","PeriodicalId":48588,"journal":{"name":"Children-Basel","volume":"11 10","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11505651/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142510731","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Primary Adrenal Insufficiency, Complete Sex Reversal, and Unique Clinical Phenotype in a Patient with Severe CYP11A1 (P450scc) Deficiency-Case Report and Literature Overview.","authors":"Zuzanna Nowak, Ewelina Preizner-Rzucidło, Jakub Gawlik, Jerzy B Starzyk, Dominika Januś","doi":"10.3390/children11101231","DOIUrl":"10.3390/children11101231","url":null,"abstract":"<p><strong>Background: </strong>Congenital adrenal hyperplasia (CAH) is a group of genetic disorders that lead to the dysfunction of the steroidogenesis pathway, resulting in steroid hormone deficiency of varied intensity. The cholesterol side-chain cleavage enzyme (P450scc), coded by the <i>CYP11A1</i> gene, is vital to the first step in the biosynthesis of steroid hormones, which is the conversion of cholesterol to pregnenolone. Therefore, its deficiency causes a general steroid hormone shortage.</p><p><strong>Objective: </strong>We report a case of CAH caused by P450scc deficiency with complete 46, XY sex reversal, characteristic facial features (narrow middle section of the face, small ears with thick helix, fleshy upturned lobules), and dysmorphic macrocephaly along with shortened upper and lower extremities.</p><p><strong>Results: </strong>Our patient carries a compound heterozygotic pathogenic variant of the <i>CYP11A1</i> gene, with two frameshift pathogenic variants NM_000781.3(<i>CYP11A1</i>):c.358del (p.Arg120Aspfs*18) in exon 2 and NM_000781.3(<i>CYP11A1</i>):c.835del (p.Ile279Tyrfs*10) in exon 5. To date, only around 50 cases with <i>CYP11A1</i> pathogenic variants have been reported worldwide. We believe this is the first described case of a newborn with severe, classic P450scc deficiency in Poland.</p><p><strong>Conclusions: </strong>CYP11A1 (P450scc) deficiency is a rare and complex disorder that leads to primary adrenal insufficiency and may present with 46, XY disorders of sex development (DSD), phenotypic variations, and associated endocrinological abnormalities. This case, along with others cited, highlights the diverse presentations of DSD in individuals with pathogenic <i>CYP11A1</i> variants. Optimal management necessitates a multidisciplinary approach by a specialized DSD team. Gonadectomy is a key consideration to decrease the teratogenic risk associated with intra-abdominal gonadal tissue.</p>","PeriodicalId":48588,"journal":{"name":"Children-Basel","volume":"11 10","pages":""},"PeriodicalIF":2.0,"publicationDate":"2024-10-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11505906/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142510726","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}