Complete androgen insensitivity syndrome: diagnosis and management
| Autor: | Alaa Cheikhelard, Stephen Lortat-Jacob, Claire Nihoul-Fékété, Yves Morel, Francis Jaubert, Michel Polak, Elisabeth Thibaud |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Gynecology
medicine.medical_specialty medicine.drug_class Endocrinology Diabetes and Metabolism Genetic disorder Biology urologic and male genital diseases medicine.disease Androgen Malignancy Bioinformatics Androgen receptor Complete androgen insensitivity syndrome medicine.anatomical_structure medicine Vagina Disorders of sex development Partial androgen insensitivity syndrome |
| Zdroj: | Expert review of endocrinologymetabolism. 4(6) |
| ISSN: | 1744-8417 |
| Popis: | Complete androgen insensitivity syndrome (CAIS) is an X-linked genetic disorder affecting 46,XY individuals, characterized by the loss of function of the androgen receptor gene resulting in complete peripheral androgen resistance. Patients have a nonambiguous female phenotype with normal female external genitalia. Gonads are undescended testes (either intra-abdominal or inguinal), there is no uterus and the length of the vagina is usually very short. Gender identity is always female. This review focuses on the importance of accurate diagnosis of CAIS versus partial androgen insensitivity syndrome and other disorders of sex development by genotyping the androgen receptor, and raises issues of the optimal management of these patients. In the era of the Consensus Statement on Management of Intersex Disorders, we provide new insights into CAIS screening, surgical management of the gonads (balancing between hormonal production and malignancy risk) and of vaginal adequacy, and the ethics concerned with the disclosure to patients and their families. |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|