MON-464 Recurrent life threatening UTIs in a child with Prader V Salt-wasting Congenital Adrenal Hyperplasia

Abstract Disclosure: E. Silverstein: None. C. Eliazo: None. A. Diaz: None. Introduction: Classic congenital adrenal hyperplasia (CAH) is a rare condition affecting 1:16,000 newborns and is characterized by elevated testosterone levels from abnormal production of cortisol. Mutations of the CYP21A2 gene are the most common cause of CAH and can present as mild cases: non-classic/late onset CAH, or severe forms, as in classic CAH. Classic CAH can be simple virilizing or salt-wasting types, the latter, a life-threatening condition if not diagnosed soon after birth. In the U.S., screening for CAH is included on newborn screening; however, this evaluation is not often done in developing countries. Lack of early diagnosis and, in some cases surgical intervention, can be life threatening. Case report: We present the case of a 16-year-old girl born in rural Honduras and assigned as male at birth based on her male-appearing genitalia: a normal-sized and formed phallus with bilateral cryptorchidism. During infancy, this child had recurrent hospitalizations due to severe dehydration, hyponatremia, and hypotension. At 4-months of life, she was transferred to Tegucigalpa, the country's capital, and diagnosed with salt-wasting CAH. At that time, the family was asked to change her name and her gender to female, and she was started on hydrocortisone and fludrocortisone. The family moved to the U.S. when the child was 7 months old; and at that time, she was evaluated by endocrinology. A karyotype was reported as 46, XX and molecular analysis confirmed the diagnosis of CAH (Intron-2 deletions: homozygous in CYP21A2). Although legally the child appears as a male with a masculine name, the family raised her as a girl and socially changed her name. Due to non-typical gender behavior, a gender role evaluation was done by psychology at 8 years of age. However, due to learning difficulties, this evaluation was inconclusive; she identified as a girl, which matches her gender expression. Upon physical examination she has a Tanner V phallus with the urethral opening at the tip (Prader V) and bilateral cryptorchidism. She reached menarche at age 11 and has monthly bleeding through the urethra. She has been evaluated by urology and underwent cystourethroscopy and vaginogram, which showed bladder diverticula. She has had multiple urinary tract infections, some with septic shock, requiring PICU admissions. Due to lack of insurance, surgical repair is not possible. She receives prophylactic antibiotics with suboptimal compliance. Conclusion: Early CAH diagnosis is critical to prevent severe medical and social complications. While the timing of genital surgery in children with differences in sex development remains controversial, multidisciplinary evaluation is critical, especially for CAH patients, to minimize severe complications. Many adult patients report preferring genital surgery in early childhood. Unfortunately, lack of insurance coverage and surgical costs hinder access to care in the U.S. Presentation: Monday, July 14, 2025