SUN-173 A Gigantic Uterine Leiomyoma and Big Bilateral Adrenal Myelolipomas as a Result of Untreated Congenital Adrenal Hyperplasia

Abstract

IntroductionPatients with untreated congenital adrenal hyperplasia (CAH) can present early with severe symptoms of salt wasting, adrenal insufficiency and hyperandrogenism. Late consequences as a result of long term untreated CAH are rarely seen nowadays. We present a patient who presented with a massive uterine leiomyoma and bilateral adrenal myelolipomas due to longstanding treatment noncompliance.Clinical CaseA female was born with ambiguous genitalia and diagnosed with CAH at birth. She was raised as a female and received steroids until age 29 when she stopped taking steroids on her own with the intention of identifying as a male. At age 37, he presented with abdominal distension, vomiting, and hypotension. Physical exam was notable for hypotension, significantly distended abdomen, hirsutism, gynecomastia and clitoromegaly. Labs revealed sodium 126 meq/L (136–145) cortisol 78.5 ug/dL (3.7–19.4), ACTH 166 pg/mL (6–50), 17-hydroxyprogesterone 4356 ng/dL (≤285), androstenedione 7188 ng/dL (35–250), total testosterone 737 ng/dL (2–45), estradiol 142 pg/mL (48–440), aldosterone <1 ng/dL (3–16), renin 0.45 ng/mL/hr (0.25–5.82), metanephrines 56 pg/mL (≤205), normetanephrines 56 pg/mL (≤148). CT abdomen and pelvis revealed a large 31 x 35 x 31 cm pelvic mass, a 5.9 x 2.4 cm right adrenal mass and an 11.8 x 8.8 cm left adrenal mass. The patient underwent total abdominal hysterectomy and bilateral adrenalectomy. Pathology of the pelvic mass was consistent with uterine leiomyoma (gross tumor was 12.4 kg) and pathology of the bilateral adrenal masses were consistent with bilateral adrenal myelolipomas.DiscussionGlucocorticoids and mineralocorticoids are the mainstays of treatment in CAH, with the goal of providing adequate replacement while reducing levels of ACTH and adrenal androgens. Persistently elevated levels of ACTH and androgens can lead to many serious sequela, even outside of adrenal insufficiency and virilization. Due to the conversion of androgens to estrogens, untreated females with CAH have significantly elevated levels of both hormones. These high levels of androgens and estrogen can then stimulate growth of estrogen-dependent organs as exemplified by our patient. Chronic ACTH stimulation can cause adrenal hyperplasia, but has also been associated with the development of other adrenal masses including adrenal myelolipomas. Adrenal myelolipomas can become hormonally functional or cause mass effect, hemorrhage, necrosis when reaching a large enough size.ConclusionThis case demonstrates the importance of CAH treatment compliance as there are many serious sequela outside of the expected adrenal insufficiency and virilization. Even when the desired effect is virilization with physical male features, other means of hormonal therapy should be considered as there remains the risks of abnormal growth of certain organs sensitive to the excessive hormones.