Introduction: Complete androgen insensitivity syndrome (CAIS) is a sexual development disorder due to mutations that cause function loss in androgen receptors in 46, XY individuals. The risk of malignancy development until the age of 25 years in CAIS is 510%. We present a CAIS case where a Sertoli cell tumour was found, together with the USG and MR findings.
Case: A 17-year-old female presented to our department complaining of amenorrhoea. She had a history of inguinal hernia surgery at the age of 2 years. The patients niece of the same age had been diagnosed with CAIS at our department and gonadectomy had been performed 6 months ago. She had four other nieces with similar diagnoses. She was phenotypically female. On physical examination, height was 164.7 cm (−1.53 S.D.s), weight 54.5 kg (−2 S.D.), breast development Tanner stage 5, pubic hair Tanner stage 2 and there was scarce axillary hair. The gonad was palpated in the left inguinal region. Chromosome analysis revealed 46, XY, SRY positive. The LH level was 18.6 mIU/ml, FSH 0.7 mIU/ml, total testosterone 702 ng/dl, E2 31.3 pg/ml, Anti-müllerian hormone 8.2 ng/ml, and SHBG 59.7 nmol/l. Pelvic ultrasonography and MR imaging revealed Solid soft tissue 29×19×22 mm in size that could be from the testis parenchyma in the right adnex and adjacent cystic lesion 32×25×23 mm in size; solid soft tissue 17×9×11 mm in size that could be consistent with testis parenchyma in the left inguinal region and adjacent cystic lesion 38×20×18 mm in size. The Sexual Orientation and Gender Identity Committee decided on gonadectomy. Histopathological evaluation of the gonad revealed a Sertoli cell tumour.
Conclusion: There are reports of a unilateral Sertoli-Leydig cell tumour in two AIS cases and a bilateral tumor in one AIS case in the literature. We discussed a rarely seen Sertoli cell tumor developing in a CAIS case with USG and MR findings.
01 - 03 Oct 2015
European Society for Paediatric Endocrinology