Swyer Syndrome: A Case Report

Area of Science:

• Genetics
• Endocrinology
• Reproductive Medicine

Background:

• Swyer syndrome is a rare genetic disorder characterized by 46,XY gonadal dysgenesis.
• It presents as primary amenorrhea in individuals with a female phenotype.

Observation:

• A 16-year-old female patient presented with primary amenorrhea.
• CT scans showed an absent uterus and bilateral ovaries.
• Calcific nodules, suspected to be atrophic testes, were noted in the inguinal areas.

Findings:

• Chromosomal analysis confirmed a 46,XY karyotype.
• The findings are consistent with a diagnosis of Swyer syndrome.

Implications:

• This case contributes to understanding the clinical presentation of Swyer syndrome.
• Highlights the importance of karyotyping in diagnosing primary amenorrhea.
• Informs clinical management and genetic counseling for affected individuals.