Complete Androgen Insensitivity Syndrome: From Bench to Bed

DOI Web Site 被引用文献1件
  • Nina Tyutyusheva
    Pediatric and Adolescent Endocrinology, Division of Paediatrics, Azienda Ospedaliero-Universitaria Pisana, 56126 Pisa, Italy
  • Ilaria Mancini
    Gynecology and Human Reproduction Physiopathology Unit, IRCCS Policlinico di Sant’Orsola, DIMEC, University of Bologna, 40138 Bologna, Italy
  • Giampiero Igli Baroncelli
    Pediatric and Adolescent Endocrinology, Division of Paediatrics, Azienda Ospedaliero-Universitaria Pisana, 56126 Pisa, Italy
  • Sofia D’Elios
    Pediatric and Adolescent Endocrinology, Division of Paediatrics, Azienda Ospedaliero-Universitaria Pisana, 56126 Pisa, Italy
  • Diego Peroni
    Pediatric and Adolescent Endocrinology, Division of Paediatrics, Azienda Ospedaliero-Universitaria Pisana, 56126 Pisa, Italy
  • Maria Cristina Meriggiola
    Gynecology and Human Reproduction Physiopathology Unit, IRCCS Policlinico di Sant’Orsola, DIMEC, University of Bologna, 40138 Bologna, Italy
  • Silvano Bertelloni
    Pediatric and Adolescent Endocrinology, Division of Paediatrics, Azienda Ospedaliero-Universitaria Pisana, 56126 Pisa, Italy

説明

<jats:p>Complete androgen insensitivity syndrome (CAIS) is due to complete resistance to the action of androgens, determining a female phenotype in persons with a 46,XY karyotype and functioning testes. CAIS is caused by inactivating mutations in the androgen receptor gene (AR). It is organized in eight exons located on the X chromosome. Hundreds of genetic variants in the AR gene have been reported in CAIS. They are distributed throughout the gene with a preponderance located in the ligand-binding domain. CAIS mainly presents as primary amenorrhea in an adolescent female or as a bilateral inguinal/labial hernia containing testes in prepubertal children. Some issues regarding the management of females with CAIS remain poorly standardized (such as the follow-up of intact testes, the timing of gonadal removal and optimal hormone replacement therapy). Basic research will lead to the consideration of new issues to improve long-term well-being (such as bone health, immune and metabolic aspects and cardiovascular risk). An expert multidisciplinary approach is mandatory to increase the long-term quality of life of women with CAIS.</jats:p>

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