Complete Androgen Insensitivity Syndrome.

Complete Androgen Insensitivity Syndrome in Three Sisters

Partial Androgen Insensitivity Syndrome: A rare disease

Androgen insensitivity syndrome is a rare disease, manifested as normal female external phenotype to infertile male with 46 XY karyotype due to different level of resistance of androgen receptor. Androgen insensitivy syndrome is classified as complete, partial and mild androgen insensitivity. Partial androgen insensitivity syndrome is further subclassified according to morphogenesis as predomin...

Laparoscopic gonadectomy in complete androgen insensitivity syndrome.

Laparoscopic orchiectomy was performed in a 16-year-old patient with complete androgen insensitivity syndrome. Pathology revealed in situ carcinoma of the seminiferous tubules.

Role of Imaging in the Diagnosis and Management of Complete Androgen Insensitivity Syndrome in Adults

Complete androgen insensitivity syndrome is an X-linked recessive androgen receptor disorder characterized by a female phenotype with an XY karyotype. Individuals affected by this syndrome have normal female external genitalia but agenesis of the Müllerian duct derivatives, that is, absence of the Fallopian tubes, uterus, cervix, and the proximal part of the vagina, with presence of endoabdomin...

A large seminoma occurring 20 years after diagnosis of complete androgen insensitivity syndrome: A case report☆

•A seminoma developed in a patient with androgen insensitivity syndrome.•The patient had a de novo androgen receptor mutation.•Proper management of AIS, including appropriate genetic counseling, is necessary.

Response to: Comment on “Complete Androgen Insensitivity Syndrome: Optimizing Diagnosis and Management”

We appreciate Balsamo and colleagues’ interest [1] in our recent paper [2] about a case of complete androgen insensitivity syndrome (CAIS). We are grateful for their insightful comments and the opportunity to clarify a number of elements from our work. Since many of the opinions expressed in their letter are based on biased interpretation of data, we would like to point-to-point answer their qu...