Klinefelter Syndrome Latest Advances

Delayed Diagnosis of 48XXYY Syndrome: A Case Report Highlighting the Role of G-Banding Cytogenetics.

Journal: Journal of UOEH

Published: November 30, 2025

POU4F2/Brn-3b is Essential for Spermatogenesis and its Disruption is Linked to Male Infertility in Mice and Humans.

Journal: Research square

Published: November 24, 2025

Genomic Confluence: When Cerebrotendinous Xanthomatosis, Klinefelter Syndrome, and a BRCA2 Variant Intersect.

Journal: International journal of molecular sciences

Published: October 02, 2025

Non-mosaic Klinefelter syndrome with high sperm count: rewriting the textbooks.

Journal: Journal of assisted reproduction and genetics

Published: September 15, 2025

Neuropsychological profile of an adult with Down syndrome-Klinefelter syndrome.

Journal: Applied neuropsychology. Adult

Published: September 13, 2025

Klinefelter Syndrome Identified by Next-Generation Sequencing as a Risk Factor for Venous Thromboembolism: A Single-Institution Study.

Journal: Annals of laboratory medicine

Published: September 11, 2025

A case of Klinefelter syndrome presenting with an acute psychotic episode after COVID-19 infection.

Journal: PCN reports : psychiatry and clinical neurosciences

Published: September 02, 2025

Unveiling Psychiatric Complexities in 48,XXYY Syndrome: A Case Study.

Journal: Cureus

Published: August 22, 2025

Incidence of miscarriages in women with children with 47,XXY, 48,XXXY, or 49,XXXXY.

Journal: Frontiers in endocrinology

Published: August 19, 2025

First description of co-occurrence of 49,XXXXY and X-linked Cornelia de Lange syndrome: case report.

Journal: Frontiers in endocrinology

Published: August 19, 2025

Metabolism and type 2 diabetes across life stages in Klinefelter syndrome: a population-based cohort study.

Journal: The Journal of clinical endocrinology and metabolism

Published: August 12, 2025

Chromosomal Abnormalities and Hydrocephalus: Could There Be an Association between Klinefelter's Syndrome and Idiopathic Normal-Pressure Hydrocephalus?

Journal: Journal of neurological surgery. Part A, Central European neurosurgery

Published: August 05, 2025

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Delayed Diagnosis of 48XXYY Syndrome: A Case Report Highlighting the Role of G-Banding Cytogenetics.

Delayed Diagnosis of 48XXYY Syndrome: A Case Report Highlighting the Role of G-Banding Cytogenetics.

POU4F2/Brn-3b is Essential for Spermatogenesis and its Disruption is Linked to Male Infertility in Mice and Humans.

POU4F2/Brn-3b is Essential for Spermatogenesis and its Disruption is Linked to Male Infertility in Mice and Humans.

Genomic Confluence: When Cerebrotendinous Xanthomatosis, Klinefelter Syndrome, and a BRCA2 Variant Intersect.

Genomic Confluence: When Cerebrotendinous Xanthomatosis, Klinefelter Syndrome, and a BRCA2 Variant Intersect.

Non-mosaic Klinefelter syndrome with high sperm count: rewriting the textbooks.

Non-mosaic Klinefelter syndrome with high sperm count: rewriting the textbooks.

Neuropsychological profile of an adult with Down syndrome-Klinefelter syndrome.

Neuropsychological profile of an adult with Down syndrome-Klinefelter syndrome.

Klinefelter Syndrome Identified by Next-Generation Sequencing as a Risk Factor for Venous Thromboembolism: A Single-Institution Study.

Klinefelter Syndrome Identified by Next-Generation Sequencing as a Risk Factor for Venous Thromboembolism: A Single-Institution Study.

A case of Klinefelter syndrome presenting with an acute psychotic episode after COVID-19 infection.

A case of Klinefelter syndrome presenting with an acute psychotic episode after COVID-19 infection.

Unveiling Psychiatric Complexities in 48,XXYY Syndrome: A Case Study.

Unveiling Psychiatric Complexities in 48,XXYY Syndrome: A Case Study.

Incidence of miscarriages in women with children with 47,XXY, 48,XXXY, or 49,XXXXY.

Incidence of miscarriages in women with children with 47,XXY, 48,XXXY, or 49,XXXXY.

First description of co-occurrence of 49,XXXXY and X-linked Cornelia de Lange syndrome: case report.

First description of co-occurrence of 49,XXXXY and X-linked Cornelia de Lange syndrome: case report.

Metabolism and type 2 diabetes across life stages in Klinefelter syndrome: a population-based cohort study.

Metabolism and type 2 diabetes across life stages in Klinefelter syndrome: a population-based cohort study.

Chromosomal Abnormalities and Hydrocephalus: Could There Be an Association between Klinefelter's Syndrome and Idiopathic Normal-Pressure Hydrocephalus?

Chromosomal Abnormalities and Hydrocephalus: Could There Be an Association between Klinefelter's Syndrome and Idiopathic Normal-Pressure Hydrocephalus?