Abstract
There are various causes of primary amenorrhea in phenotypically females such as, complete androgen insensitivity syndrome, pure gonadal dysgenesis, 17b-hydroxysteroid dehydrogenase deficiency, or mixed gonadal dysgenesis. Primary amenorrhea in a phenotypically female is commonly encountered in Androgen Insensitivity Syndrome. In patients with Androgen Insensitivity Syndrome, with intra-abdominal testis there is high chances of developing testicular tumour, among them Sertoli cell tumour and seminoma being the most common types. Leydig cell tumour in androgen insensitivity syndrome, is very rare and malignant leydig cell tumour is even further rarer. There are few cases reported in the literature of malignant leydig cell tumour with complete androgen insensitivity. Here we are reporting a case of 65 years married elderly patient with malignant leydig cell tumour with complete androgen insentivity syndrome. Keywords: complete androgen insensitivity syndrome; leydig cell tumour; testicular feminization.
Highlights
Androgen Insensitivity Syndrome (AIS) or testicular feminization is a sex-linked recessive inherited disorder caused by a mutation of the androgen receptor gene located at Xq11–q12.1 Patients with AIS have abnormal descend of the testes, histologically revealing solid immature tubules and markedly decreased or absent germ cells
The gene for the androgen receptors is located on the long arm of X chromosome.[2]
AIS is diagnosed at puberty in primary amenorrhea with phenotypically female patients, is occasionally diagnosed in an older population
Summary
Androgen Insensitivity Syndrome (AIS) or testicular feminization is a sex-linked recessive inherited disorder caused by a mutation of the androgen receptor gene located at Xq11–q12.1 Patients with AIS have abnormal descend of the testes, histologically revealing solid immature tubules and markedly decreased or absent germ cells. Testicular tumors can develop in patients with AIS and that the risk of gonadal malignancies increases as the age increases. Complete Androgen Insensitivity Syndrome (CAIS) is associated with abnormal testicular development with an increased risk of germcell malignancy.
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
