Lin Jack, Khoo Teck K, Voelschow Erin R, Viets Zachary J
Internal Medicine Residency, MercyOne Des Moines, Des Moines, IA, USA.
Diabetes and Endocrinology, MercyOne Des Moines, Des Moines, IA, USA.
Eur J Case Rep Intern Med. 2021 Nov 30;8(11):003048. doi: 10.12890/2021_003048. eCollection 2021.
To report a case of untreated classic 21 hydroxylase (OH) deficiency congenital adrenal hyperplasia (CAH) in a transgender patient resulting in pulmonary embolisms (PEs) and bilateral adrenal masses.
A 36-year-old male (birth sex: female) presenting with bilateral PEs in the setting of long-standing, untreated classic 21OH CAH was also found to have bilateral adrenal masses (unconfirmed myelolipomas).
Further history revealed a known diagnosis of CAH. The patient had been treated with glucocorticoid and mineralocorticoid replacement in childhood but stopped taking these medications against medical advice. During his hospital admission, he was noted to have elevated 17-hydroxyprogesterone, low cortisol with elevated ACTH levels, and male-level testosterone measurements. CT of the abdomen/pelvis revealed a 23 cm mass in the left renal fossa and a 2.5 cm mass in the right renal fossa consistent with bilateral adrenal myelolipomas. The patient attended follow-up in clinic, but declined any further hormonal treatment as he identified as male and felt further treatment was unnecessary.
This case demonstrated the unique long-term effects of untreated classic CAH due to 21OH deficiency, including bilateral adrenal myelolipoma, adrenal compensation to the point of producing male-level androgens, and possibly PEs. Treatment with hydrocortisone was recommended to suppress ACTH and it was planned that the patient would eventually start on testosterone (although this would have been complicated by his bilateral PEs). Potential aetiologies for the PEs included vascular compression of the renal artery (which could explain the elevated EPO/erythrocytosis contributing to hypercoagulability) or the renal vein by the adrenal mass.
Gender dysphoria in patients with congenital adrenal hyperplasia (CAH) is not uncommon.Adrenal enlargement can allow untreated CAH patients to compensate.Pulmonary embolisms can be a consequence of treating as well as untreated CAH.
报告一例未治疗的经典型21羟化酶（OH）缺乏先天性肾上腺皮质增生症（CAH）的跨性别患者，该患者出现肺栓塞（PE）和双侧肾上腺肿块。
一名36岁男性（出生性别为女性），在长期未治疗的经典型21OH CAH情况下出现双侧PE，还发现有双侧肾上腺肿块（未确诊为髓样脂肪瘤）。
进一步询问病史发现其已知患有CAH。该患者童年时接受过糖皮质激素和盐皮质激素替代治疗，但违背医嘱停止服用这些药物。住院期间，发现其17-羟孕酮升高、皮质醇水平低而促肾上腺皮质激素（ACTH）水平升高，睾酮测量值处于男性水平。腹部/盆腔CT显示左肾窝有一个23 cm的肿块，右肾窝有一个2.5 cm的肿块，符合双侧肾上腺髓样脂肪瘤。患者到门诊随访，但拒绝进一步的激素治疗，因为他认定自己为男性，觉得无需进一步治疗。
该病例显示了未治疗的经典型21OH缺乏CAH的独特长期影响，包括双侧肾上腺髓样脂肪瘤、肾上腺代偿至产生男性水平雄激素的程度，以及可能出现的PE。建议使用氢化可的松治疗以抑制ACTH，计划让患者最终开始使用睾酮（尽管其双侧PE会使情况复杂化）。PE的潜在病因包括肾上腺肿块对肾动脉（这可解释促红细胞生成素升高/红细胞增多导致血液高凝性）或肾静脉的血管压迫。
先天性肾上腺皮质增生症（CAH）患者的性别焦虑并不罕见。肾上腺增大可使未治疗的CAH患者实现代偿。肺栓塞可能是CAH治疗及未治疗的结果。
