ESPE Yearbook of Paediatric Endocrinology

J Pediatr Adolesc Gynecol. 2021 Apr;34(2):168–175. doi:10.1016/j.jpag.2020.11.012. PMID: 33248216

The authors report the long-term outcomes of 71 patients with Complete Androgen Insensitivity Syndrome (CAIS) in the multicentre cross-sectional dsd-LIFE study. Patients were included at 14 different sites in 6 countries in Europe. This is one of the largest long-term studies on CAIS and is of interest to clinicians who manage girls and women with CAIS.

Data on treatment, surgery, and gynaecological assessment are presented. Importantly, the patients’ personal views were extensively assessed by questionnaire. These focussed on psychological aspects, such as body image and the effects of surgery on quality of life, genital satisfaction after surgery, genital body image, sexual complaints, and overall sexual function.

Sixty-two (87%) had undergone gonadectomy, of whom 12 were before puberty, 21 (30%) had vaginoplasty and/or vaginal dilations, and 2 had breast enlargement surgery. Gynecological examination, performed in 61%, showed that vaginal length did not differ between those who had surgery or vaginal dilatation versus those who had no intervention. Strictures were seen only in the surgery group, in 3 individuals, and scarring in 50%. These are important aspects when making treatment decisions. Vaginal satisfaction was significantly associated with sexual satisfaction in general. Functional problems were commonly reported across the different nonsurgical and surgical groups. Current treatment with estrogen, or estrogen plus progesterone, was reported by 74%, including 2 with retained gonads, and 9 received testosterone treatment. Gonad histology was available in 19 cases; one patient showed a sertoli cell adenoma; one other patient showed bilateral gonadoblastomas.