La sindrome di Morris

Author/s Chiara Simonelli, Veronica Vizzari, Alessandra Perilli
Publishing Year 2009 Issue 2009/1 Language Italian
Pages 13 P. 93-105 File size 210 KB
DOI 10.3280/RSC2009-001005
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Morris syndromeThe Morris syndrome. Androgen insensitivity syndrome (AIS) is a genetic disease caused by mutations in the androgen receptor gene. AIS patients are individuals with a 46, XY karyotype. The phenotype consists in female external genitalia, short vagina, absent mullerian structures, and abdominal, inguinal or intralabial primordial testes. Precise diagnosis, that differentiating between complete (CAIS) and partial (PAIS) form, requires clinical and hormonal investigation and is of great importance for appropriate gender assignment. The CAIS has a minimal impact of one in 99,000 births, for the PAIS, however, there aren’t some statistics available, but generally it should be with a lower impact, approximately ten times less than CAIS.

Key words: Morris syndrome, androgen insensitivity syndrome, CAIS, PAIS, gonadectomy, hormonal replacement therapy, vaginal ipoplasia.

Parole chiave: sindrome di Morris, sindrome da insensibilità agli androgeni, CAIS, PAIS, gonadectomia, terapia ormonale sostitutiva, ipoplasia vaginale.

Chiara Simonelli, Veronica Vizzari, Alessandra Perilli, La sindrome di Morris in "RIVISTA DI SESSUOLOGIA CLINICA" 1/2009, pp 93-105, DOI: 10.3280/RSC2009-001005