Rare and severe complications of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a case report

21-羟化酶缺乏导致的先天性肾上腺增生症罕见且严重的并发症:病例报告

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作者:Florbela Ferreira, João Martin Martins, Sónia do Vale, Rui Esteves, Garção Nunes, Isabel do Carmo

Conclusion

This case illustrates that congenital adrenal hyperplasia due to 21-hydroxylase deficiency can progress to severe acute and chronic complications. The masses in the patient's adrenal glands and testicles resulted from chronically elevated adrenocorticotropic hormone and growth of adrenocortical cells. The basal and stimulated steroid profile, before and after adrenalectomy, revealed an unexpected pattern, suggesting significant contribution of the testicular adrenal cells to the steroidogenesis.

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