Inadequate Cortisol Response to the Tetracosactide (Synacthen�) Test in Non-Classic Congenital Adrenal Hyperplasia: An Exception to the Rule?

2015 ◽  
Vol 83 (4) ◽  
pp. 262-267 ◽  
Author(s):  
Athanasia Stoupa ◽  
Laura Gonz�lez-Brice�o ◽  
Graziella Pinto ◽  
Dinane Samara-Boustani ◽  
Caroline Thalassinos ◽  
...  
2020 ◽  
Vol 2020 ◽  
pp. 1-5 ◽  
Author(s):  
Neha Agarwal ◽  
Louise Apperley ◽  
Norman F. Taylor ◽  
David R. Taylor ◽  
Lea Ghataore ◽  
...  

Background. Deficiency of 11β-hydroxylase is the second most common cause of congenital adrenal hyperplasia (CAH), presenting with hypertension, hypokalaemia, precocious puberty, and adrenal insufficiency. We report the case of a 6-year-old boy with cystic fibrosis (CF) found to have hypertension and cortisol insufficiency, which were initially suspected to be due to CAH, but were subsequently identified as being secondary to posaconazole therapy. Case Presentation. A 6-year-old boy with CF was noted to have developed hypertension after administration of two doses of Orkambi™ (ivacaftor/lumacaftor), which was subsequently discontinued, but the hypertension persisted. Further investigations, including echocardiogram, abdominal Doppler, thyroid function, and urinary catecholamine levels, were normal. A urine steroid profile analysis raised the possibility of CAH due to 11β-hydroxylase deficiency, and a standard short synacthen test (SST) revealed suboptimal cortisol response. Clinically, there were no features of androgen excess. Detailed evaluation of the medical history revealed exposure to posaconazole for more than 2 months, and the hypertension had been noted to develop two weeks after the initiation of posaconazole. Hence, posaconazole was discontinued, following which the blood pressure, cortisol response to the SST, and urine steroid profile were normalized. Conclusion. Posaconazole can induce a clinical and biochemical picture similar to CAH due to 11β-hydroxylase deficiency, which is reversible. It is prudent to monitor patients on posaconazole for cortisol insufficiency, hypertension, and electrolyte abnormalities.


Author(s):  
Núbia Maria de Oliveira ◽  
Raquel David Langer ◽  
Sofia Helena Valente de Lemos-Marini ◽  
Gil Guerra-Júnior ◽  
Ezequiel Moreira Gonçalves

2005 ◽  
pp. 101-113 ◽  
Author(s):  
Evangelia Charmandari ◽  
George Chrousos ◽  
Deborah P. Merke

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