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OBJECTIVE: 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. METHODS: 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). RESULTS: 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. CONCLUSION: 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. LEARNING POINTS: 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.
RESUMO
PURPOSE: To determine if and when fetal structures are identifiable during first trimester pregnancy on magnetic resonance imaging (MRI) in women with acute abdominopelvic pain. METHODS: Sixty-four first trimester MRI examinations performed for evaluation of abdominopelvic pain were reviewed retrospectively. T2-weighted images were assessed independently by three radiologists for the presence of gestational sac, yolk sac, fetal pole, and limb buds. Mean sac diameter and sac volume were determined, and logistic regression analyses were performed. Criterion values for fetal structures and gestational sac size were calculated using receiver operating characteristic analysis. RESULTS: A gestational sac is present in all but two cases. The yolk sac is never identified. A fetal pole is identified at a gestational age (GA), mean sac diameter (MSD), and gestational sac volume (GSV) of greater than 6.4 weeks, 1.7 cm, and 8.9 mL, respectively. Limb buds are identified at a GA, MSD, and GSV of greater than 8.1 weeks, 3.4 cm, and 27.1 mL, respectively. There is a significant correlation between GA and gestational sac size, including the MSD (r 2 = 0.85, P < 0.01) and GSV (r 2 = 0.86, P < 0.01). CONCLUSIONS: The gestational sac is readily demonstrated on T2-weighted images, but the yolk sac is not identified on routine MRI. The fetal pole and limb buds are seen on MRI at a similar GA and MSD as with published values using transvaginal sonography.