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Last update 08 May 2025

Triple X Syndrome

Last update 08 May 2025

Basic Info

Synonyms

47,XXX Syndrome, 47,XXX complex intersex, 47,XXX complex intersex (diagnosis)

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Introduction

A condition caused by the presence of an extra X chromosome resulting in 47,XXX karyotype in an individual with female phenotype. The condition is characterized by tall stature, increased risk of learning disabilities, and delayed development of speech and language.

Clinical Trials associated with Triple X Syndrome

NCT03396562

/ RecruitingNot ApplicableIIT

The eXtroardinarY Babies Study: Natural History of Health and Neurodevelopment in Infants and Young Children With Sex Chromosome Trisomy

This study is designed to research the natural history of neurodevelopment, health and early hormonal function in infants with XXY/Klinefelter syndrome, XYY, XXX and other sex chromosome variations in an effort to identify early predictors of developmental and health outcomes. The Investigators will also evaluate different developmental screening tools in infants with sex chromosome variations so the investigators can develop recommendations for pediatrician caring for infants and young children with XXY/Klinefelter syndrome, XYY, XXX, and other sex chromosome variations.

Start Date29 Sep 2017

Sponsor / Collaborator

University of Colorado Denver

NL-OMON45700

/ CompletedNot Applicable

Growing up with X and Y chromosome trisomy: the TRIXY study - Sex Chromosome Trisomies (SCT)

Start Date29 May 2017

Sponsor / Collaborator-

NL-OMON44845

/ CompletedNot ApplicableIIT

Triple X syndrome in adults: cognitive, psychiatric and neuroanatomical profile - Adults & triple X syndrome

Start Date08 Dec 2015

Sponsor / Collaborator-

100 Clinical Results associated with Triple X Syndrome

100 Translational Medicine associated with Triple X Syndrome

0 Patents (Medical) associated with Triple X Syndrome

258

Literatures (Medical) associated with Triple X Syndrome

01 Mar 2025·Journal of Developmental & Behavioral Pediatrics

Neurodevelopmental and Mental Health Outcomes in a National Clinical Sample of Youth With Sex Chromosome Trisomies Compared With Matched Controls

Article

Author: Martin, Sydney ; Tartaglia, Nicole N. ; Janusz, Jennifer ; Frazier, Jacqueline ; Martinez-Chadrom, Michele ; Middleton, Caitlin ; Vogiaski, Maria G. ; Hansen-Moore, Jennifer ; Lean, Rachel E. ; Wilson, Rebecca ; Pyle, Laura ; Furniss, Anna ; Morrow, Leela ; Christakis, Dimitri A. ; Ross, Judith ; Ikomi, Chijioke ; Davis, Shanlee M. ; Nokoff, Natalie ; Hall, Adriana

ABSTRACTObjective:To compare the prevalence of neurodevelopmental and mental health diagnoses in a national sample of youth with sex chromosome trisomies (SCTs) with matched controls.Methods:Patients in PEDSnet and a diagnosis code mapping to 47,XXY/Klinefelter syndrome (n = 1171), 47,XYY/Double Y syndrome (n = 243), or 47,XXX/Trisomy X syndrome (n = 262) were matched with controls using propensity scores. Generalized estimating equations computed odds ratios (OR) with 95% confidence intervals (CI) for the prevalence of diagnoses within the neurodevelopmental and mental health composites, psychotropic medication prescriptions, and encounters with behavioral health and therapy providers. Alpha was set at 0.0025 to account for multiple comparisons.Results:Patients with SCTs had higher odds of diagnoses within the neurodevelopmental (OR 6.3, 95% CI, 5.7–7.2) and mental health composites (OR 2.7, 95% CI, 2.3–3.2) compared with matched controls. All neurodevelopmental diagnoses were more prevalent among all SCT groups compared with controls. Within the mental health composite, only the prevalence of anxiety and mood disorder was higher in all SCT groups. A higher proportion of patients with SCTs had psychotropic prescriptions compared with controls (stimulants 13.1% vs 5.2%, selective serotonin reuptake inhibitors 8.7% vs 2.8%, antipsychotics 6.5% vs 2.4%, p < 0.0001 for all). Overall, 48% of patients with SCTs had a clinical encounter with a behavioral health provider vs 16.6% of controls (OR 5.6, 95% CI, 4.1–5.1).Conclusion:Compared with matched controls, youth with SCTs receiving care at US tertiary care pediatric centers have disproportionately high rates of neurodevelopmental and mental health conditions, emphasizing the need for appropriate screening and intervention in these populations.

27 Feb 2025·Military Medicine

Exercise-Induced Pulmonary Hemorrhage in a Non-Athletic Child: Implications for Military Recruits

Article

Author: Welsh, Sebastian ; Oliver, Amanda ; Boster, Joshua ; Warren, Whittney

ABSTRACTHemoptysis is a rare presenting symptom in pediatric and young adult patients with a highly variable outcome ranging from an isolated mild occurrence to severe illness and death. Exercise-induced pulmonary hemorrhage (EIPH) has several reports in adult literature but has not previously been reported in pediatric patients. A 12-year-old female with a history of trisomy X (47, XXX), obesity, depression, anxiety, and obstructive sleep apnea presented to the pediatric pulmonology clinic after several episodes of hemoptysis. Spirometry, imaging, and laboratory evaluation for autoimmune vasculitides and other causes associated with pediatric hemoptysis did not reveal an etiology for the hemoptysis. A combined bronchoscopy with pediatric and adult providers revealed no airway lesions or sources of bleeding. EIPH is a diagnosis of exclusion. This patient was diagnosed with EIPH and had spontaneous resolution with improved fitness. Many military training and service activities are similar to those reported with EIPH. Trainees with various levels of aerobic fitness are at risk of developing EIPH. The hemoptysis evaluation is important for military providers given the range of severity in presentations, even though it is a rare occurrence. In addition to a novel presentation of EIPH, this case demonstrates the value of collaboration between pediatric and adult specialists in the Military Health System (MHS). Military care providers should be aware of this rare phenomenon in service members and trainees who are at risk during maximal aerobic effort.

01 Jan 2025·ACR Open Rheumatology

Synergistic Effects of Extra X Chromosome on Development of Systemic Lupus Erythematosus and Sjögren Disease in Klinefelter and Triple X Syndrome: A Retrospective Cohort Study

Article

Author: Palmer, Anna‐Kay ; Tan, Irene J.

ObjectiveSystemic lupus erythematosus (SLE) and Sjögren disease (SjD) are autoimmune diseases with significant female predominance. The prevalence of SLE is increased in Klinefelter syndrome (KS) compared with the general male population. Our study investigates the dose effects of extra X chromosomes on the development of SLE and SjD in KS and triple X syndrome compared with the general population.MethodsThis multicenter, retrospective cohort study used TriNetX, a global federated research database. Using International Statistical Classification of Diseases, Tenth Revision, Clinical Modification codes, patients with a diagnosis of SLE or SjD in the general population, as well as those with SLE and SjD in KS (karyotype 47,XXY) and triple X syndrome (karyotype 47,XXX) from January 1, 2010, to January 1, 2024, were identified. Fisher's exact test was used to calculate the relative risk of SLE and SjD in males with KS and females with triple X syndrome compared with the general population. The 95% confidence intervals (95% CI) were obtained with STATA statistical software.ResultsA total of 113,748,373 patients were identified. The prevalence of SLE and SjD was 0.59% and 0.077%, respectively, in men, and 0.381% and 0.388% for SLE and SjD, respectively, in women. The male‐to‐female ratios for all ages were 1:6.4 for SLE and 1:5 for SjD. The prevalence of KS and triple X syndrome in the general population was 0.0017% and 0.0010%, respectively. Among patients with KS, the prevalence of SLE and SjD was both 0.5%. Among patients with triple X syndrome, the prevalence of SLE and SjD was 1.3% and 0.8%, respectively. SLE was 8.5‐fold (95% CI 4.6–15.8) and SjD was 6.6‐fold (95% CI 3.56–12.26) more common in KS compared with the general male population (P < 0.001 by Fisher's exact test). SLE was 3.5‐fold (95% CI 2.09–5.72) and SjD was 2.3‐fold (95% CI 1.22–4.20) more common in triple X syndrome compared with the general female population (P < 0.001 and P < 0.05, respectively).ConclusionThe extra X chromosome in KS and triple X syndrome appears to confer a nonproportional, synergistic dose effect on the development of SLE and SjD when compared with the general population.

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Triple X Syndrome

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