Complete Androgen Insensitivity Syndrome (CAIS) in a 22-Year-Old Black Female: Effect of Low Socioeconomic Status and Social Determinants of Health on Diagnosis and Care [ID 1689]

INTRODUCTION: Androgen insensitivity syndrome is a 46,XY disorder of sex development caused by androgen receptor dysfunction. It occurs in approximately 1 in 20,400 to 1 in 99,100 genetic males, with diagnosis typically occurring around 16 years of age. This case report highlights the delayed diagnosis of complete androgen insensitivity syndrome (CAIS) in a 22-year-old patient from a low-income community, underscoring the effect of social determinants of health (SDOH) on health care access and outcomes. METHODS: A 22-year-old phenotypic female with primary amenorrhea presented for evaluation. Living in a low-income area with limited access to health care, the patient had not received regular medical care throughout adolescence. A comprehensive history, physical examination, imaging studies, and genetic testing were performed to confirm the diagnosis of CAIS. RESULTS: Physical examination revealed normal breast development, absent axillary and pubic hair, and no palpable uterus. Imaging identified bilateral undescended testes, and genetic testing confirmed a 46,XY karyotype. The patient was diagnosed with CAIS and referred for hormone replacement therapy, psychological counseling, and fertility management. Delays in diagnosis were attributed to limited health care access, lack of insurance, and low health literacy. CONCLUSIONS/IMPLICATIONS: This case illustrates the profound effect of SDOH, including low socioeconomic status, lack of health care access, and health literacy on delayed diagnosis in CAIS. Addressing these barriers through culturally competent, accessible care is essential to improving outcomes for underserved populations. Further research should focus on the intersection of SDOH and rare disorders to guide future health care strategies.