The XY Female: Exploring Care for Adolescent Girls with Complete Androgen Insensitivity Syndrome

ABSTRACT

Differences in Sex Development (DSD) encompasses many diagnoses, where the development of chromosomal make-up, gonadal development or anatomical development is atypical. XY, DSD is a classification under the recent international consensus statement, and XY females commonly encapsulate disorders of androgen synthesis and androgen action. Complete Androgen Insensitivity Syndrome (CAIS) is the most common XY, DSD diagnosis, which results in an individual having XY chromosomes, but the person is phenotypically female. This article explores the care and management of children and young people with a DSD and focuses on the diagnosis of CAIS in adolescence. Medical and surgical management is discussed, alongside sexual function, gender identity and the psychological impact of the diagnosis. The involvement of the multidisciplinary team is stressed, together with an emphasis on the investment that is needed in psychological and nursing support for girls with CAIS, and their families.

KEYWORDS:

• Androgen
• CAIS
• DSD
• gender identity
• sexual function

Useful Websites

www.dsdfamilies.orgwww.dsdteens.orgwww.aissg.orgwww.isna.org

Abbreviations

AIS–Androgen Insensitivity Syndrome AMH–Anti-Mullerian Hormone CAIS–Complete Androgen Insensitivity Syndrome DSD–Disorder/Differences in Sex Development LH–Luteinizing hormone MDT–Multidisciplinary team MIS–Mullerian Inhibiting Substance MURCS–Mullerian, renal, cervicothoracic somite abnormalities PAIS–Partial Androgen Insensitivity Syndrome

Disclosure statement

The author is a Trustee of the UK-based charity and patient advocacy group dsdfamilies