Author's Response: Serum Cortisol and 17-Hydroxyprogesterone Concentrations in Children with Classic Congenital Adrenal Hyperplasia

2002 ◽  
Vol 87 (6) ◽  
pp. 2993a-2993
Author(s):  
E. Charmandari
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Serum Cortisol ◽  
Adrenal Hyperplasia ◽  
Classic Congenital Adrenal Hyperplasia ◽  
17 Hydroxyprogesterone

scholarly journals Management of Altered Hydrocortisone Pharmacokinetics in a Boy with Congenital Adrenal Hyperplasia Using a Continuous Subcutaneous Hydrocortisone Infusion

2009 ◽  
Vol 94 (9) ◽  
pp. 3477-3480 ◽  
Author(s):  
Sinead M. Bryan ◽  
John W. Honour ◽  
Peter C. Hindmarsh
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Insulin Pump ◽  
Serum Cortisol ◽  
Adrenal Hyperplasia ◽  
Adrenal Androgen ◽  
Valuable Adjunct ◽  
Rapid Control ◽  
High Doses ◽  
17 Hydroxyprogesterone ◽  
Oral Doses

Background: Conventional hydrocortisone dosing schedules do not mimic the normal circadian rhythm of cortisol, making it difficult to optimize treatment in congenital adrenal hyperplasia (CAH). Case Details: We report a 14.5-year-old boy with CAH who had reduced bioavailability [42% (normal 80% orally and 100% by im route)] and increased clearance [half-life 50 min (normal range, 70–100 min)] of oral doses of hydrocortisone leading to ambient serum 17-hydroxyprogesterone concentrations of 400 nmol/liter (14.5 ng/ml) and androstenedione concentrations of 24.9 nmol/liter (7.1 ng/ml). Intervention: Using a continuous but variable sc hydrocortisone infusion via an insulin pump, rapid control of his CAH was attained with a normal cortisol circadian profile. Average daily hydrocortisone dose was 17.4–18.6 mg/m2, which produces on average 24-h serum cortisol and 17-hydroxyprogesterone concentrations of 316 nmol/liter (115 ng/ml) and 4.3 nmol/liter (1.4 ng/ml), respectively. Therapy has been maintained over 4 yr with suppression of normal adrenal androgen production and normal progression through puberty. Conclusions: Continuous sc infusion of hydrocortisone may prove a valuable adjunct to therapy for CAH, particularly in patients requiring high doses of oral hydrocortisone and in those with abnormal hydrocortisone pharmacokinetics. A boy is described with congenital adrenal hyperplasia and altered hydrocortisone pharmacokinetics managed by continuous subcutaneous hydrocortisone infusion.

scholarly journals Simple Virilization Type of Classic Congenital Adrenal Hyperplasia: Case Report

2018 ◽  
Vol 11 (3) ◽  
pp. 1345-1350
Author(s):  
I Made Pande Dwipayana ◽  
Karismayusa Sudjana ◽  
Siswadi Semadi ◽  
Ketut Suastika ◽  
Made Ratna Saraswati ◽  
...  
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Chromosome Analysis ◽  
Ambiguous Genitalia ◽  
Adrenal Hyperplasia ◽  
Laboratory Examination ◽  
Androgen Excess ◽  
Classic Congenital Adrenal Hyperplasia ◽  
Irregular Border ◽  
17 Hydroxyprogesterone ◽  
High Level

We have reported a case of 21 year old patient with congenital adrenal hyperplasia that manifestated with ambiguous genitalia and other signs of androgen excess. Chromosome analysis revealed 46 XX. Laboratory examination and imaging showed high level of 17-hydroxyprogesterone, undeveloped uterus, two ovaries with follicles, no testicles, no prostate, and mass at upper side of both kidney with irregular border confirmed the diagnosis. It was planned to give glucocorticoid therapy to the patient to suppress androgen level, genital reconstruction surgery and psychosexual therapy to reared as a woman, but she refused all suggestions because she wanted to be considered a man.

scholarly journals Serum Cortisol and 17-Hydroxyprogesterone Interrelation in Classic 21-Hydroxylase Deficiency: Is Current Replacement Therapy Satisfactory?

2001 ◽  
Vol 86 (10) ◽  
pp. 4679-4685 ◽  
Author(s):  
Evangelia Charmandari ◽  
David R. Matthews ◽  
Atholl Johnston ◽  
Charles G. D. Brook ◽  
Peter C. Hindmarsh
Keyword(s):  
Congenital Adrenal Hyperplasia ◽  
Serum Cortisol ◽  
Adrenal Hyperplasia ◽  
Hydroxylase Deficiency ◽  
Group 2 ◽  
17 Hydroxyprogesterone ◽  
21 Hydroxylase Deficiency ◽  
Pituitary Adrenal Axis ◽  
Serum Acth ◽  
Group 1

One of the main aims in the management of patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency is to achieve adequate suppression of the adrenal cortex with the smallest possible dose of glucocorticoid substitution. To evaluate the administration schedule of current replacement therapy regimens, we investigated the cortisol-17-hydroxyprogesterone interrelation in 36 patients (13 males and 23 females; median age, 12.3 yr; range, 6.1–18.8 yr) with salt-wasting congenital adrenal hyperplasia. As sufficient variation in 17-hydroxyprogesterone concentrations was required to allow analysis of the cortisol-17-hydroxyprogesterone interrelation, patients were divided into 2 groups depending on the adequacy of hypothalamic-pituitary-adrenal axis suppression. The first group consisted of 17 patients with suppressed 17-hydroxyprogesterone concentrations (group 1), and the second group consisted of 19 patients with nonsuppressed 17-hydroxyprogesterone concentrations (group 2). We determined serum cortisol and 17-hydroxyprogesterone concentrations at 20-min intervals for a total of 24 h while patients were receiving their usual replacement treatment with hydrocortisone and 9α-fludrocortisone. We also determined the lowest dose of dexamethasone required to suppress the 0800 h serum ACTH concentrations when administered as a single dose (0.3 or 0.5 mg/m2) the night before. Mean 24-h cortisol and 17-hydroxyprogesterone concentrations were 3.9μ g/dl (sd = 2.1) and 66.2 ng/dl (sd = 92.7), respectively, in group 1 and 4.1 μg/dl (sd = 2.5) and 4865.7 ng/dl (sd = 6951) in group 2. The 24-h 17-hydroxyprogesterone concentrations demonstrated circadian variation, with peak values observed between 0400–0900 h. In group 2, 17-hydroxyprogesterone concentrations decreased gradually in response to the rise in cortisol concentrations during the day, but remained low during the night despite the almost undetectable cortisol concentrations between 1600–2000 h. Mean 0800 h androstenedione concentrations correlated strongly with integrated 17-hydroxyprogesterone concentrations (r = 0.81; P < 0.0001), but not with integrated cortisol concentrations. There was a significant negative correlation between cortisol and 17-hydroxyprogesterone at lag time 0 min (r =− 0.187; P < 0.0001), peaking at lag time 60 min (r = −0.302; P < 0.0001), with cortisol leading 17-hydroxyprogesterone by these time intervals. Finally, 0800 h serum ACTH concentrations were sufficiently suppressed after a dexamethasone dose of 0.3 mg/m2 in all but three patients. These findings indicate that in classic 21-hydroxylase deficiency, hydrocortisone should be administered during the period of increased hypothalamic-pituitary-adrenal axis activity, between 0400–1600 h, with the biggest dose given in the morning. Blood investigations performed as part of monitoring of congenital adrenal hyperplasia patients should include androstenedione and 17-hydroxyprogesterone concentrations determined in the morning before the administration of hydrocortisone. It should also be emphasized that blood investigations are only complementary to the overall assessment of these patients, which is primarily based on the evaluation of growth and pubertal progress.

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