La Betty, Tung Celestine, Choi Eugene A, Nguyen Ha
Section of Endocrinology, Diabetes and Metabolism, Baylor College of Medicine, Houston, Texas.
Division of Gynecologic Oncology, Baylor College of Medicine, Houston, Texas.
AACE Clin Case Rep. 2021 May 13;7(6):342-345. doi: 10.1016/j.aace.2021.05.002. eCollection 2021 Nov-Dec.
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.
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.
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.
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.
先天性肾上腺皮质增生症（CAH）患者可能早期出现失盐、肾上腺功能不全和高雄激素血症。未经治疗的CAH的晚期后果现在很少见。我们报告一例因长期治疗不依从导致巨大子宫平滑肌瘤和双侧肾上腺髓质脂肪瘤的患者。
一名患有CAH的女性患者接受糖皮质激素治疗至29岁，之后停药并打算认定自己为男性。该患者随后出现腹痛和腹胀。腹部和盆腔的计算机断层扫描图像显示一个31×35×31厘米的腹部肿块、一个5.9×2.4厘米的右侧肾上腺肿块和一个11.8×8.8厘米的左侧肾上腺肿块。患者接受了全子宫切除术和双侧肾上腺切除术。腹部肿块的病理结果与子宫平滑肌瘤一致，双侧肾上腺肿块与肾上腺髓质脂肪瘤一致。
CAH治疗的目标是在降低促肾上腺皮质激素和肾上腺雄激素水平的同时提供足够的替代治疗。由于雄激素转化为雌激素，未经治疗的CAH女性患者的雄激素和雌激素水平升高。这些激素的高水平可刺激雌激素依赖性器官的生长，如我们的患者所示。慢性促肾上腺皮质激素刺激不仅可导致肾上腺增生，还与肾上腺髓质脂肪瘤的发生有关。
本病例表明CAH治疗依从性的重要性，因为除了预期的肾上腺功能不全和男性化之外，还有几种严重的后遗症。即使期望的效果是男性化，也应考虑其他激素治疗方法。
