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- Title
Zespół częściowej niewrażliwości na androgeny - opis przypadku.
- Authors
Petriczko, Elżbieta; Marcinkiewicz, Katarzyna; Słowikowska-Hilczer, Jolanta; Horodnicka-Józwa, Anita; Stecewicz, Iwona; Krzywińska-Zdeb, Elżbieta; Szmit-Domagalska, Justyna; Walczak, Mieczysław
- Abstract
Androgen insensitivity syndrome (AIS, Morris syndrome) is a congenital, inherited in a recessive, X-linked manner disorder of sex development. A case of an 11-year-old girl diagnosed because of clitoromegaly is presented. Female gender identity, testes in inguinal canals and 46,XY karyotype in a cytogenetic analysis were recognized. Hormonal and imaging investigations confirmed the diagnosis of partial androgen insensitivity syndrome. Due to the increased risk of testicular malignancy and possibility of advancing virilisation the patient was qualified for a complete removal of the gonads. The surgical correction of the external genitalia was postponed until postpuberty. An estrogen replace-ment therapy was started.
- Publication
Pediatric Endocrinology / Endokrynologia Pediatryczna, 2014, Vol 13, Issue 1, p61
- ISSN
1730-0282
- Publication type
Article