Presentation
Recurrent episodes of gross hematuria.
Patient Data
Non-contrast CT, both axial and coronal reformates demonstrate bilateral, symmetrically enlarged adrenal glands. In the portovenous phase, both axial and coronal reformats show diffuse prominent enhancement of the adrenal glands, attributed to their rich blood supply. The adrenal glands maintain their morphology without any masses, consistent with bilateral adrenal hyperplasia.
In the pelvic cuts post-contrast sagittal reformats, reveal the presence of a structure with uterine morphology and vagina, and axial post-contrast further demonstrates a uterus with two endometrial cavities consistent with Mullerian duct anomalies, vagina, left adnexal structure consistent with an ovary and absence of the prostate, spermatic cords, and testes.
Axial cuts further demonstrate the clitoral body, homologous to the penile shaft.
Retroaortic left renal vein is noted.
Normal KUB region.
The imaging findings are consistent with CAH presenting with ambiguous genitalia. The absence of testes and the presence of structures resembling female internal genitalia (uterus with Mullerian duct anomalies, vagina, ovary) alongside the male phenotype suggest a disorder of sexual differentiation likely associated with CAH.
Case Discussion
Bilateral adrenal hyperplasia can arise from various conditions, including lymphoma and congenital adrenal hyperplasia (CAH) and and other adrenal disorders. CAH is primarily caused by 21-hydroxylase deficiency but can also result from deficiencies in enzymes such as 11β-hydroxylase and 17α-hydroxylase.
CAH is classified into two main forms: Classic and non-classic. Classic CAH is usually detected in infancy due to severe symptoms such as salt-wasting crises and significant virilization of female external genitalia. Non-classic CAH, also known as late-onset CAH, presents later in life and has milder symptoms. Non-classic CAH presents with symptoms such as hirsutism, menstrual irregularity, and signs of hyperandrogenism.
In this case, the patient presents with a male phenotype, including male appearance and voice. This presentation is consistent with non-classic CAH, where elevated androgen levels result in masculinization. The CT scan is challenging because the patients retains a female reproductive tract despite the male external characteristics.
The patient's presentation with episodes of gross hematuria is likely due to unrecognized irregular menstruation. This can occur in individuals with non-classic CAH who have a uterus, endometrial tissue, and ovary, leading to menstrual bleeding that may be misinterpreted as hematuria.
The patient is referred to an endocrinologist for further evaluation and management.
Contributed by: Dr. Venkateshwar Reddy Kesireddy.
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