Swyer Syndrome Latest Advances

Find the Latest Research About Swyer Syndrome

Last Updated: 02/24/2026

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Found 1363 publications

STARD9 and CDK5RAP2-Novel Candidate Genes for 46,XY Complete Gonadal Dysgenesis.

STARD9 and CDK5RAP2-Novel Candidate Genes for 46,XY Complete Gonadal Dysgenesis.

Journal: International journal of molecular sciences
Published: November 06, 2025

Swyer syndrome in a Syrian female: A rare case report.

Swyer syndrome in a Syrian female: A rare case report.

Journal: The Journal of international medical research
Published: August 21, 2025

Clinical Spectrum, Surgical Management, and Outcomes of NR5A1-Related 46,XY Differences of Sex Development: A Narrative Review.

Clinical Spectrum, Surgical Management, and Outcomes of NR5A1-Related 46,XY Differences of Sex Development: A Narrative Review.

Journal: Medicina (Kaunas, Lithuania)
Published: August 15, 2025

Perspective on postoperative hormone replacement therapy and fertility preservation in Swyer syndrome with dysgerminoma: a case series and literature review.

Perspective on postoperative hormone replacement therapy and fertility preservation in Swyer syndrome with dysgerminoma: a case series and literature review.

Journal: European journal of obstetrics, gynecology, and reproductive biology
Published: August 04, 2025

A Case Report of Tissue Mosaicism in 45,X0/46,XY: Diagnostic Complexity in a Newborn with Ambiguous Genitalia.

A Case Report of Tissue Mosaicism in 45,X0/46,XY: Diagnostic Complexity in a Newborn with Ambiguous Genitalia.

Journal: Reports (MDPI)
Published: July 04, 2025

Close relationship, similar phenotype of GATA4 and NR5A1 mutations: gonadal dysgenesis and puberty development.

Close relationship, similar phenotype of GATA4 and NR5A1 mutations: gonadal dysgenesis and puberty development.

Journal: Journal of endocrinological investigation
Published: May 26, 2025

Campomelic Dysplasia With Sex Reversal, Gonadal Dysgenesis, and Bilateral Gonadoblastoma.

Campomelic Dysplasia With Sex Reversal, Gonadal Dysgenesis, and Bilateral Gonadoblastoma.

Journal: Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
Published: May 15, 2025

Advanced-Stage Gonadal Dysgerminoma in a Patient With a Previous Diagnosis of Familial Swyer Syndrome: A Very Rare Genetic Entity.

Advanced-Stage Gonadal Dysgerminoma in a Patient With a Previous Diagnosis of Familial Swyer Syndrome: A Very Rare Genetic Entity.

Journal: Case reports in medicine
Published: May 10, 2025

Spectrum of gonadal morphology in disorders of sexual development: A case series.

Spectrum of gonadal morphology in disorders of sexual development: A case series.

Journal: Indian journal of pathology & microbiology
Published: April 19, 2025

PRRG4 Brain-Specific Conditional Knockout Mice Display Autism Spectrum Disorder-Like Behaviors.

PRRG4 Brain-Specific Conditional Knockout Mice Display Autism Spectrum Disorder-Like Behaviors.

Journal: Biological procedures online
Published: March 23, 2025

Gonadal genetics and germ cell tumors risk in SRY-negative 46,XX testicular/ovotesticular disorders of sex development.

Gonadal genetics and germ cell tumors risk in SRY-negative 46,XX testicular/ovotesticular disorders of sex development.

Journal: Hormone research in paediatrics
Published: March 21, 2025

A highly rare female phenotype with complex chromosomal mosaicism: 46,XY/45,X/46,X,r(Y).

A highly rare female phenotype with complex chromosomal mosaicism: 46,XY/45,X/46,X,r(Y).

Journal: Clinical and experimental reproductive medicine
Published: March 21, 2025
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Last Updated: 02/24/2026