Introduction: Patients with congenital adrenal hyperplasia (CAH) can present early with salt wasting, adrenal insufficiency, and hyperandrogenism. Late consequences as a result of untreated CAH are now rarely seen. We present a patient with a massive uterine leiomyoma and bilateral adrenal myelolipomas due to longstanding treatment noncompliance.
Case report: A female patient with CAH was treated with glucocorticoids until the age of 29 years when they stopped with the intention of identifying as a male. The patient then presented with abdominal pain and distension. Computed tomography images of the abdomen and pelvis revealed a 31 × 35 × 31-cm abdominal mass, a 5.9× 2.4-cm right adrenal mass, and an 11.8 × 8.8-cm left adrenal mass. The patient underwent total hysterectomy and bilateral adrenalectomy. Pathology of the abdominal mass was consistent with uterine leiomyoma, and bilateral adrenal masses were consistent with adrenal myelolipomas.
Discussion: The goal of CAH therapy is to provide adequate replacement while reducing adrenocorticotropic hormone and adrenal androgens levels. Due to the conversion of androgens to estrogens, untreated females with CAH have elevated androgen and estrogen levels. High levels of these hormones can stimulate the growth of estrogen-dependent organs as exemplified by our patient. Chronic adrenocorticotropic hormone stimulation can not only cause adrenal hyperplasia but has also been associated with the development of adrenal myelolipomas.
Conclusion: This case demonstrates the significance of CAH treatment compliance as there are several serious sequela outside of the expected adrenal insufficiency and virilization. Even when the desired effect is virilization, other means of hormonal therapy should be considered.
Keywords: 17-OHP, 17-hydroxyprogesterone; ACTH, adrenocorticotropic hormone; CAH, congenital adrenal hyperplasia; adrenal myelolipoma; congenital adrenal hyperplasia; uterine leiomyoma.