Androgen insensitivity syndrome. Case report
Year: 2026
Type: article
Study design: Case Report
Abstract: Androgen insensitivity syndrome (AIS) is an X-linked recessive disorder of sex development (DSD) caused by variants in the androgen receptor (AR) gene on the long arm of the X chromosome that lead to loss of receptor function. Clinical manifestations depend on the extent of alteration in receptor structure and sensitivity. Individuals with AIS may present with a range of phenotypes, from typical male external genitalia with mild spermatogenic impairment to fully female external genitalia, despite the presence of a Y chromosome. This report describes a six-year clinical follow-up of a child with disorder of sex development (46, XY karyotype) and incomplete androgen insensitivity syndrome. An atypical external genital structure was identified at three months of age, after the child had already been registered as female in official records. At four months, the patient was evaluated at a specialized center, where the diagnosis was confirmed. This clinical case highlights the necessity for pediatricians to assess the external genitalia during the neonatal period. Early identification facilitates timely referral to specialized centers for diagnosis, gender assignment, and initiation of therapeutic and rehabilitation interventions in patients with disorders of sex development.
Source: Pediatrics Consilium Medicum
Institutions: Children's Medical Center, Children's Medical Center
Language: English
Subfield: Endocrinology, Diabetes and Metabolism
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W7221813786