Complete androgen insensitivity syndrome associated with bilateral Sertoli cell adenomas and paratesticular leiomyomas: case report and review of the literature.

BACKGROUND

Complete androgen insensitivity syndrome (CAIS) is a rare and usually unexpected cause of primary amenorrhoea that results from receptor resistance to androgens, producing a female phenotype in genetically male patients.

CASE: A 16-year-old girl was diagnosed with CAIS after investigations for primary amenorrhoea. Her left inguinal gonad and the right intra-abdominal gonad were resected and histopathology revealed the presence of dysgenetic multinodular testes with absence of germ cells, significant hyperplasia of Sertoli cells (Sertoli cell adenoma) and presence of paratesticular leiomyomas.

CONCLUSION

Although the risk of gonadal tumour development is considered to be low, a variety of tumours have been described in association with CAIS, but this is the first report of development of bilateral paratesticular leiomyomas developing concurrently with Sertoli cell adenomas.