Compliance Issues in Managing 21 Hydroxylase Deficiency and their Short/Long-Term Consequences

  • Jack Lin Internal Medicine Residency, MercyOne Des Moines, Des Moines, IA, USA
  • Teck K Khoo Diabetes and Endocrinology, MercyOne Des Moines, Des Moines, IA, USA
  • Erin R Voelschow Internal Medicine Residency, MercyOne Des Moines, Des Moines, IA, USA
  • Zachary J Viets Diagnostic Radiology, MercyOne Des Moines, Des Moines, IA, USA

Keywords

Gender dysphoria, compensated congenital adrenal hyperplasia, pulmonary embolism

Abstract

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.

VIEW THE ENTIRE ARTICLE

References

  • Martinerie L, Viengchareun S, Delezoide A-L, Jaubert F, Sinico M, Prevot S, et al. Low renal mineralocorticoid receptor expression at birth contributes to partial aldosterone resistance in neonates. Endocrinology 2009;150(9):4414–4424.
  • Engels M, Pijnenburg-Kleizen KJ, Utari A, Faradz SM, Oude-Alink S, van Herwaarden AE, et al. Glucocorticoid activity of adrenal steroid precursors in untreated patients with congenital adrenal hyperplasia. J Clin Endocrinol Metab 2019;104(11):5065–5072.
  • Falhammar H, Frisén L, Norrby C, Hirschberg AL, Almqvist C, Nordenskjöld A, et al. Increased mortality in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Endocrinol Metab 2014;99(12):E2715–2721.
  • de Jesus LE, Costa EC, Dekermacher S. Gender dysphoria and XX congenital adrenal hyperplasia: how frequent is it? Is male-sex rearing a good idea? J Pediatr Surg 2019;54(11):2421–2427.
  • Hogan JL, Rosenthal SJ, Yarlagadda SG, Jones JA, Schmitt TM, Kumer SC, et al. Late-onset renal vein thrombosis: a case report and review of the literature. Int J Surg Case Rep 2015;6:73–76.
  • van Zaane B, Stuijver D, Squizzato, A, Gerdes V. Arterial and venous thrombosis in endocrine diseases. Semin Thromb Hemost 2013;39(05):489–495.
  • Published: 2021-11-30

    Issue: 2021: Vol 8 No 11 (view)

    Section: Articles

    How to cite:
    1.
    Lin J, Khoo TK, Voelschow ER, Viets ZJ. Compliance Issues in Managing 21 Hydroxylase Deficiency and their Short/Long-Term Consequences. EJCRIM 2021;8 doi:10.12890/2021_003048.