1 Department of Medical and Surgical Sciences, Pediatric Unit, Program of Endocrinology, University of Bologna, Italy 2 Department of Obstetrics and Gynecology, University of Bologna, Italy 3 Adolescent Medicine, Department of Obstetrics, Gynecology and Pediatrics, University Hospital, Pisa, Italy 4Clinical Psychology Unit, Department of Pediatrics, University of Bologna, Italy 5 Pediatric Surg...

Androgen insensitivity syndrome (AIS) was first described in details by Morris [1], who provided the descriptive terms—testicular feminization syndrome for this disorder, which is inherited as X-linked recessive disorder. The underlying pathology is the inability of the end organs to respond to androgens, either due to lack of androgen cytosol receptor or defect in the receptor. Genotypically t...

Prophylactic gonadectomy has been recommended in complete androgen insensitivity syndrome (CAIS) because of an increased risk for the development of malignant germ cell tumors in the intra-abdominal gonads. No reliable screening parameters are available to detect early (pre-)malignant changes. Because the tumor risk before puberty is very low, the timing of gonadectomy has been postponed to all...

OBJECTIVE To investigate sexual function in women with complete androgen insensitivity syndrome (CAIS) and to investigate the prevalence of factors that might contribute to sexual difficulties. DESIGN Cross sectional survey and clinical examination. SETTING Tertiary hospital multidisciplinary intersex clinic and an international peer support group for CAIS. PATIENT(S) Sixty-six adult wome...

The end-organ resistance to androgens has been designated as androgen insensitivity syndrome (AIS), an X-linked disorder caused by mutations in the androgen receptor (AR) gene. It is generally accepted that defects in the AR gene prevent the normal development of both internal and external genital structures in 46,XY individuals, causing a variety of phenotypes ranging from male infertility to ...

Abnormalities of secondary sexual differentiation manifest in varying degrees depending upon the severity of the underlying cause. Primary amenorrhea in phenotypic females is caused by several different factors, including hormonal imbalance, nutritional deficiency and sex differentiation abnormalities. Androgen insensitivity syndrome (AIS) accounts for a large proportion of such cases in phenot...