Case Report

Cystic fibrosis and congenital adrenal hyperplasia: A rare occurrence with diagnostic dilemmas, similarities and contradictions

Afshin Rezaeifar*, Mohammad Nabavi, Parisa Rezaeifar, Morteza Fallahpour, Saba Arshi, Mohammad Hassan Bemanian and Sima Shokri

Published: 20 October, 2020 | Volume 4 - Issue 1 | Pages: 018-020

Cystic fibrosis (CF) is a hereditary syndrome composed of exocrine gland dysfunction involving multiple systems which if untreated may result in chronic respiratory infections, pancreatic enzyme deficiency and failure to thrive. The association between CF and other inherited diseases or congenital anomalies is rare. We describe a rare case of CF with concomitant congenital adrenal hyperplasia (CAH). 21- Hydroxylase deficiency accounts for most CAH cases. Varity in clinical phenotypes depends on the amount of enzymatic activity which in turn depends on different combination of gene mutations. The genes of CAH and CF are located in different locations. The chance of these diseases coexisting in our patient would be a rare combination. However, such a case will be more frequent in our population than others because of consanguineous marriage and common ancestors. There are diagnostic difficulties, similarities and contradictions between two diseases and they are pointed out.

Read Full Article HTML DOI: 10.29328/journal.aaai.1001021 Cite this Article Read Full Article PDF


Cystic fibrosis; Congenital adrenal hyperplasia; Sweat test


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