Undiagnosed congenital adrenal hyperplasia in a young woman: MRI insights into complex genital malformations

A 23-year-old female patient was referred to the radiology department for evaluation of sexual dysfunction. A previous gynecological examination revealed clitoral hypertrophy and a vagina explorable to a depth of only 2 cm. Hormonal testing showed reduced cortisol levels, along with elevated ACTH and testosterone. Cytogenetic analysis confirmed a 46, XX karyotype; FISH testing was negative for the SRY gene. Pelvic MRI revealed clitoromegaly with evidence of corpora cavernosa forming a penis, a small prostate in the periurethral region, and a vagina that converged with the urethra, forming a common urogenital sinus. No structures suggestive of a scrotum or soft tissue indicative of testicles were observed. The uterus and ovaries appeared normal. Abdominal MRI demonstrated right adrenal hyperplasia.

Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders resulting from defects in adrenal steroidogenesis, with affected individuals displaying various genital malformations. MRI plays a key role in diagnosing and evaluating these complex genital malformations, both of internal and external genitalia. It aids in addressing symptoms of affected individuals, such as recurrent urinary infections, urinary retention, and sexual dysfunction, and provides preoperative imaging prior to surgical correction. MRI also enables the detection of a prostate gland in patients with CAH, serving as a valuable tool for prostate cancer screening when combined with PSA monitoring.