Keywords:
Swyer syndrome, Gonadal dysgenesis, androgen, karyotype, SRY gene
Abstract
Swyer syndrome is an uncommon form of gonadal dysgenesis, characterised by a 46, XY karyotype (1). In spite of presence of Y chromosome the affected individual has a female phenotype as the dysgenetic gonad produces neither AMH nor androgens. As a result of failure of masculinisation of both internal and external genitalia is that of a female. These cases generally present at puberty with primary amenorrhoea and lack to development of secondary sexual characteristics. With this case report, we aimed to underline the necessity of considering 46, XY complete pure gonadal dysgenesis in the differential diagnosis in every adolescent female patient with primary amenorrhoea and the importance of early gonadectomy in order to avoid the risk for gonadal tumour development.
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