Christine Eliazo, Medical Student at Nova Southeastern University, discusses a case report on a patient with congenital adrenal hyperplasia (CAH).
CAH is a genetic condition characterized by an enzyme deficiency in the adrenal glands. This causes underproduction of cortisol and the overproduction of androgens. Symptoms may include ambiguous genitalia at birth, dehydration, poor feeding, diarrhea, vomiting and other health problems. People with milder forms may not be diagnosed with the condition until adolescence or adulthood when they experience early signs of puberty or fertility problems. CAH is most commonly caused by mutations in the CYP21A2 gene.
A case report recently presented at the ENDO 2025 annual meeting looked at life threatening urinary tract infections (UTIs) in a 16 year old girl with Prader V salt-wasting CAH. Following recurrent hospitalizations for severe dehydration, hyponatremia, and hypotension, the patient was diagnosed with salt-wasting CAH at 4 months old and started on hydrocortisone and fludrocortisone. The patient was assigned male at birth based on male-appearing genitalia, however, following this diagnosis was decided to be female. This was confirmed at 7 months old when the family moved to the U.S. from Honduras for further care and a karyotype was reported as 46, XX and molecular analysis confirmed the diagnosis of CAH.
Legally, the child appears male and has a masculine name but the family has raised her as a girl and has socially changed her name. At 8 years of age, a psychological gender role evaluation was performed due to non-typical gender behavior. The evaluation was inconclusive due to learning difficulties, however, the patient identifies as a girl, matching her gender expression.
Physical examinations have observed a Tanner V phallus with a urethral opening at the tip and bilateral cryptorchidism. The patient experienced her first menstrual cycle at 11 years and has monthly bleeding through the urethra. Urological evaluations and procedures have observed bladder diverticula. The patient has had multiple urinary tract infections, some of which have led to septic shock and admission to the pediatric intensive care unit.
The case report shows the necessity of early diagnosis for CAH in preventing severe medical and social implications. While in the U.S., CAH is included in newborn screening, this is not common in developing countries. Additionally, lack of insurance coverage and surgical costs present challenges in the U.S. as well.
For more information on CAH and other rare endocrine disorders, visit https://checkrare.com/diseases/endocrine-disorders/
