Background: The androgen insensitivity syndrome (AIS) is a disease connected with the inactivation of AR due to a mutation that inactivate male sexual differentiation, and causes a spectrum of phenotypic anomalies having as a common aspect the loss of reproductive characteristics.
Patients: In this paper the clinical, endocrinological and molecular features of three patients are reported. The first case concerns a 17 years old patient, the second an infant suffering from inguinal hernia that has been surgically corrected when he was 3 months old and finally the third case concerns a 57 years old woman.
Results: All the subjects had a common primary amenorrhea and a following pelvic echography highlighted the absence of internal genital organs and the presence of a dead-end vagina. All the patients are characterized by a normal male karyotype and present on the short arm of the Y chromosome the SRY gene. Moreover, FISH revealed the presence of androgen receptor gene on the X chromosome and the SRY gene on the Y one. The automatic sequencing of the genes for the androgen receptor (AR) shows that each subject has a mutation in the gene for the androgen receptor (AR). These mutations are associated with complete androgen insensivity syndrome (CAIS). All the cases of study exhibited a negative family history for CAIS.
Conclusion: This study confirms the need to perform a pelvic examination by means of echography in pre-pubertal and pubertal age to highlight the normality of the internal genitalia (uterus and ovaries). If a primary amenorrhea is checked, the karyotyping is compulsory. If a Morris's syndrome is suspected, it is of critical importance to find the rudimentary male gonads (by means of MRI, pelvic echography, laparoscopy) and surgically remove them to prevent the onset of malignancies (teratoblastoma, gonadoblastoma). Once the considered disease has been identified, a continuous psychological help can be considered useful for the patient and the family.