Incidence of intratubular germ cell neoplasia in androgen insensitivity syndrome

Abstract

Gonadal histology was investigated by means of conventional microscopy in 6 patients with complete androgen insensitivity syndrome, in 11 with incomplete androgen insensitivity syndrome, and in 3 with 5\g=a\-reductase syndrome. Twelve subjects were prepubertal and 8 pubertal. In all patients gonadal tissue was removed as a prophylactic measure and no patients gave rise to any clinical suspicion of a tumour. Eight patients with incomplete androgen insensitivity syndrome, 5 of whom (62.5%) were prepubertal, showed intratubular germ cell neoplasia and in 6 of them it was bilateral. Histochemical and immunohistochemical analysis showed considerable agreement between atypical morphological aspects and positive response to Schiff's periodic acid and to staining with the anti-placenta alkaline phosphatase antibody. Our patients were characterized by one of the highest reported incidences of intratubular germ cell neoplasia, particularly at prepubertal age. These findings would seem to indicate that a rethink is needed concerning the general opinion that patients with androgen intensivity syndrome have practically no risk of developing malignancy, and that orchidectomy is not advisable before puberty is completed. It has long been recognized that patients with an¬ drogen insensitivity syndrome have a higher inci¬ dence of germ cell tumours (1,2) in adulthood.Recent studies (3-5) have pointed out that some subjects with this syndrome already have intratu¬ bular germ cell neoplasia patterns in childhood, and similar cellular changes in the gonads of infer¬ tile and cryptorchid men have been shown to be a true precursor of invasive tumours (6-11).In order to investigate the incidence of this condition in prepubertal patients and to evaluate its diagnostic implications, we examined the gonadal histology of 20 children and adolescents with male pseudohermaphroditism.

Community screening leading to the diagnosis of androgen insensitivity syndrome at the age of 65

“…Similar to our patient, Lentz and Cappellari in 1998 reported a 67 year-old amenorrheic female diagnosed with AIS after presenting with abdominal pain, swelling and a pelvic mass (Lentz and Cappellari, 1998). Early diagnosis allows patients to undergo the recommended preventative gonadectomy to prevent malignancy from occurring (Cassio et al, 1990). In a case series by Rutgers and Scully, 10 of their 43 patients (23%), were found to have sertoli cell adenomas (Rutgers and Scully, 1991).…”

Complete androgen insensitivity syndrome: factors influencing gonadal histology including germ cell pathology

“…2,8 Interestingly, the occurrence of intratubular germ cell neoplasia in pediatric patients, which is at a maximum of 6% of cases, does not reach the frequency of germ cell cancer in adulthood reported in most literature. 2,[8][9][10][11] The prevalence of intratubular germ cell neoplasia appears to be remarkably higher (15%) in pediatric patients with partial androgen insensitivity than in patients with complete androgen insensitivity. 4 Hannema et al described that residual activity of AR has a positive effect on the development of Wolffian structures and the enlargement of seminiferous tubules during puberty in patients with complete androgen insensitivity syndrome.…”

Long‐term outcomes and changing attitudes to intersexuality

“…Normal individuals usually accept their sexual AIS [91]. A second study showed CIS in five of eight prepubertal children with partial AIS [92]. Two further status and psychosocial niche.…”