SUN-462 - When Access Delays Diagnosis: Congenital Adrenal Hyperplasia in Two Sisters

Background
Congenital adrenal hyperplasia (CAH) comprises a group of rare genetic conditions that impair adrenal steroid synthesis. The commonest form is caused by 21-hydroxylase deficiency (21-OHD), an autosomal-recessive disorder of adrenal steroidogenesis that results from CYP21A2 mutations. It presents with acne, hirsutism, menstrual abnormalities, or infertility. The purpose of this case series is to emphasize the impact of socioeconomic factors on delayed diagnosis of congenital adrenal hyperplasia

Case Presentation
This is a case presentation of 2 hispanic sisters, aged 32 and 36, who presented with primary amenorrhea and the desire to bear children. Both sisters had similar physical examination findings such as clitoro-phallus and hirsutism. They also stated that their other sisters living outside the country have similar symptoms. Pelvic ultrasound of one sister (3 years prior) revealed a small uterus with an unremarkable pituitary gland on MRI. Pelvic ultrasound of the other sister was unremarkable. Lab findings of both sisters were significant for elevated 17-hydroxyprogesterone (greater than 4000 ng/dL), ACTH, DHEAS, Androstenedione, total Testosterone and free Testosterone levels. FSH, LH, prolactin, HbA1c, HCG, TSH, free T4, and 11-Deoxycortisol were within normal limits. Genetic testing of one sister showed mutations of CYP21A2 (21-hydroxylase gene) in both alleles with normal female karyotype. Genetic testing of the other sister is still pending. Both were started on hydrocortisone therapy.

Discussion/ Conclusion
The elder sister was diagnosed with CAH around 32 years old and the younger sister around 28 years old. Even after immigrating to the United States, these sisters did not seek medical care due to lack of health insurance. As a result, they were diagnosed more than 15 years after their symptoms developed. Like these sisters, it is not uncommon for immigrants to lack healthcare insurance and access. Studies show that lower-income individuals often delay or forgo medical care due to financial constraints, leading to poorer health outcomes and higher healthcare costs in the long term. Additionally, systemic discrimination in healthcare settings may lead to implicit bias, affecting the quality of care provided to minorities.
This case highlights the importance of considering immigrant health in our advocacy efforts if we are to expand healthcare access for everyone in our community.

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