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Nature's Error…In Mirror He or She…Swyers Syndrome - A Rare Case

Year: 2025

Type: article

Abstract: Swyer syndrome, also known as 46, XY complete or pure gonadal dysgenesis, is a rare disorder of sex development (DSD) characterized by a female phenotype despite a male (46, XY) karyotype. The Affected individuals typically present during adolescence with delayed puberty and primary amenorrhea. Early diagnosis is essential to prevent the development of gonadal malignancies, which are common in dysgenetic gonads. Timely initiation of hormone replacement therapy (HRT) plays a crucial role in promoting the development of secondary sexual characteristics and supporting overall physical and psychosocial well-being. This case report highlights the importance of prompt recognition and management of Swyer syndrome to ensure optimal long-term outcomes.

Source: Zenodo (CERN European Organization for Nuclear Research)

DOI: 10.5281/zenodo.16942299

Author: Dr. S. K. Shilpa

Language: English

Topic: Sexual Differentiation and Disorders

Subfield: Molecular Biology

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W7077514335

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