scholarly journals Posaconazole-Induced Hypertension Masquerading as Congenital Adrenal Hyperplasia in a Child with Cystic Fibrosis

2020 ◽  
Vol 2020 ◽  
pp. 1-5 ◽  
Author(s):  
Neha Agarwal ◽  
Louise Apperley ◽  
Norman F. Taylor ◽  
David R. Taylor ◽  
Lea Ghataore ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Congenital Adrenal Hyperplasia ◽  
Profile Analysis ◽  
Cortisol Response ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Steroid Profile ◽  
Synacthen Test ◽  
Short Synacthen Test ◽  
Urine Steroid

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.

Management of Congenital Adrenal Hyperplasia Using Serum Dehydroepiandrosterone Sulfate and 17-Hydroxyprogesterone Concentrations

PEDIATRICS ◽  
1978 ◽  
Vol 61 (6) ◽  
pp. 867-871
Author(s):  
Michael P. Golden ◽  
Barbara M. Lippe ◽  
Solomon A. Kaplan ◽  
Norman Lavin ◽  
John Slavin
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Good Control ◽  
Dehydroepiandrosterone Sulfate ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Exact Evaluation ◽  
Degree Of Control ◽  
17 Hydroxyprogesterone ◽  
21 Hydroxylase Deficiency ◽  
Urine Steroid

Simultaneous serum concentrations of dehydroepiandrosterone sulfate (DHEA-S) and 17-hydroxyprogesterone (17-OHP) were compared with urinary 17-ketosteroid (17-KS) and pregnanetriol (PT) excretion during therapy in 18 prepubertal patients with the 21-hydroxylase deficiency form of congenital adrenal hyperplasia (CAH). Patients were classified into those in good, poor, or questionable control on the basis of clinical examination, skeletal age, and 17-KS and PT excretion. During therapy, use of serum steroid concentrations was found to be nearly as accurate in judging adequacy of control as use of urine steroid concentrations. Of 34 evaluations, a definite assessment of adequacy of control could be arrived at 25 times using urinary values and 22 times using both serum DHEA-S and 17-OHP concentrations. DHEA-S concentration responded sluggishly when treatment was not adequate, being greater than 100 µg/dl only in patients significantly undertreated. It was never elevated in well-controlled patients. Mid-afternoon 17-OHP concentrations were less than 200 ng/dl in well-controlled patients but readily escaped suppression and could not be used to differentiate poor from borderline control or from temporary noncompliance. Therefore, an increased DHEA-S concentration indicated poor control and a suppressed 17-OHP concentration indicated good control. The combination of normal DHEA-S level with elevated 17-OHP level, however, did not permit exact evaluation of the degree of control. Of significance is that not all patients with CAH present with an elevated DHEA-S concentration, and only in those in whom an elevated level has been documented can DHEA-S level be used as an index of control during therapy.

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 ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Cortisol Response ◽  
Adrenal Hyperplasia ◽  
Classic Congenital Adrenal Hyperplasia ◽  
Synacthen Test

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

2020 ◽  
Vol 4 (1) ◽  
pp. 018-020
Author(s):  
Nabavi Mohammad ◽  
Rezaeifar Parisa ◽  
Fallahpour Morteza ◽  
Arshi Saba ◽  
Bemanian Mohammad Hassan ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Congenital Adrenal Hyperplasia ◽  
Respiratory Infections ◽  
Pancreatic Enzyme ◽  
Gene Mutations ◽  
Failure To Thrive ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Multiple Systems ◽  
21 Hydroxylase Deficiency

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.

scholarly journals Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families

2011 ◽  
Vol 164 (6) ◽  
pp. 977-984 ◽  
Author(s):  
Radha Nandagopal ◽  
Ninet Sinaii ◽  
Nilo A Avila ◽  
Carol Van Ryzin ◽  
Wuyan Chen ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Cortisol Response ◽  
Adrenal Hyperplasia ◽  
Androgenic Alopecia ◽  
Hydroxylase Deficiency ◽  
Normal Height ◽  
Adrenal Myelolipoma ◽  
Extensive Evaluation ◽  
Adrenal Rest ◽  
21 Hydroxylase Deficiency

ObjectiveTo comprehensively phenotype parents identified with nonclassic congenital adrenal hyperplasia (NCCAH) by family genetic studies, termed here as cryptic NCCAH and to define the incidence of cryptic NCCAH in the parents of a large cohort of patients with 21-hydroxylase deficiency.DesignGenotyping was performed on 249 parents of 145 unrelated congenital adrenal hyperplasia (CAH) patients. Parents with two CYP21A2 mutations underwent extensive evaluation.ResultsOf the 249 parents, ten (4%; seven females and three males) were identified as having cryptic NCCAH. The majority was of ethnicities previously reported to have a higher incidence of NCCAH. Cosyntropin stimulation performed in eight parents provided biochemical confirmation (17-hydroxyprogesterone range 56–364 nmol/l) and cortisol response was ≤500 nmol/l in three parents (38%). Of the seven women (27–54 years) with cryptic NCCAH, four had prior infertility, two reported irregular menses, two had treatment for hirsutism, one had androgenic alopecia. Men were asymptomatic. All cryptic NCCAH parents reported normal puberty and had normal height. Adrenal hypertrophy and a small adrenal myelolipoma were observed in two parents; testicular adrenal rest tissue was not found.ConclusionsParents diagnosed with NCCAH by genetic testing are mostly asymptomatic. Temporary female infertility and suboptimal cortisol response were commonly observed. Ongoing glucocorticoid therapy is not indicated in adults with CAH identified by family genotype studies unless symptomatic, but glucocorticoid stress coverage should be considered in select cases. Parents of a child with CAH have a 1:25 risk of having NCCAH; if the mother of a child with CAH has infertility, evaluation for NCCAH is indicated.

Adrenal morphology in a large cohort of adult subjects with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

2019 ◽  
Author(s):  
Claudia Oriolo ◽  
Daniela Ibarra Gasparini ◽  
Paola Altieri ◽  
Francesca Ruffilli ◽  
Francesca Corzani ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Large Cohort ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
21 Hydroxylase Deficiency
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