The Case Reported as Bilateral Sertoli-Leydig Cell Tumors in a 61-year-old Woman With Uterine Aplasia may Instead Represent Complete Androgen Insensitivity Syndrome

There are various cause 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 of AIS 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 AIS is very rare and malignant leydig cell tumour is even further rarer. There are few case reported in the literatures 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 CAIS.

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Complete androgen insensitivity syndrome and breastfeeding

Endocrine Abstracts ◽

10.1530/endoabs.48.we1 ◽

2017 ◽

Author(s):

Gemma Fraterrigo ◽

William Drake

Keyword(s):

Androgen Insensitivity Syndrome ◽

Complete Androgen Insensitivity Syndrome ◽

Androgen Insensitivity

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Faculty Opinions recommendation of Long-term followup and comparison between genotype and phenotype in 29 cases of complete androgen insensitivity syndrome.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.1126902.584011 ◽

2008 ◽

Author(s):

Bradley Kropp

Keyword(s):

Androgen Insensitivity Syndrome ◽

Complete Androgen Insensitivity Syndrome ◽

Androgen Insensitivity

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Complete Androgen Insensitivity Syndrome: From Bench to Bed

International Journal of Molecular Sciences ◽

10.3390/ijms22031264 ◽

2021 ◽

Vol 22 (3) ◽

pp. 1264

Author(s):

Nina Tyutyusheva ◽

Ilaria Mancini ◽

Giampiero Igli Baroncelli ◽

Sofia D’Elios ◽

Diego Peroni ◽

...

Keyword(s):

Receptor Gene ◽

Hormone Replacement ◽

Basic Research ◽

Well Being ◽

Androgen Receptor Gene ◽

Androgen Insensitivity Syndrome ◽

Primary Amenorrhea ◽

Complete Androgen Insensitivity Syndrome ◽

Androgen Insensitivity

Complete androgen insensitivity syndrome (CAIS) is due to complete resistance to the action of androgens, determining a female phenotype in persons with a 46,XY karyotype and functioning testes. CAIS is caused by inactivating mutations in the androgen receptor gene (AR). It is organized in eight exons located on the X chromosome. Hundreds of genetic variants in the AR gene have been reported in CAIS. They are distributed throughout the gene with a preponderance located in the ligand-binding domain. CAIS mainly presents as primary amenorrhea in an adolescent female or as a bilateral inguinal/labial hernia containing testes in prepubertal children. Some issues regarding the management of females with CAIS remain poorly standardized (such as the follow-up of intact testes, the timing of gonadal removal and optimal hormone replacement therapy). Basic research will lead to the consideration of new issues to improve long-term well-being (such as bone health, immune and metabolic aspects and cardiovascular risk). An expert multidisciplinary approach is mandatory to increase the long-term quality of life of women with CAIS.

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