Diagnosis of homozygosity and heterozygosity in congenital adrenal hyperplasia (CAH) and control of treatment

Knorr, Dietrich; Bidlingmaier, F.; Holler, W.; Kuhnle, Ursula

doi:10.1016/0022-4731(83)90231-5

Cited by 24 publications

(8 citation statements)

References 27 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Urinary pregnanetriol for 24 h [24-h PT] (5,6,7,8) and serum 17OH-progesterone [17OHP] (6,7,8,9,10) are used as indexes for short-term periods (hours to days). Previous studies have shown that a single random measurement of 17OHP is not reliable, because the level fluctuates widely depending on the circadian rhythm of ACTH (9, 10).…”

Section: Introductionmentioning

confidence: 99%

The Range of 2.2-3.3 mg/gCr of Pregnanetriol in the First Morning Urine Sample as an Index of Optimal Control in CYP21 Deficiency

Izawa

Aso

Higuchi

et al. 2008

Clin Pediatr Endocrinol

View full text Add to dashboard Cite

Auxological data are the gold standard indexes of the therapeutic conditions in patients with CYP21 deficiency over long-term periods, whereas urinary pregnanetriol (PT) for 24 h has been used as an index for short-term periods. We previously reported that the range of 1.2–2.1 mg/m2/day of PT for 24 h (24-h PT) could be used as an index of optimal control in patients with CYP21 deficiency. The purpose of this study was to analyze the range of PT in the first morning urine samples (morning PT) as an index of optimal control in patients with CYP21 deficiency. First, the therapeutic periods of 15 participants (aged 2 yr and 5 mo to 17 yr and 4 mo) were classified into excessive, good or poor control periods using auxological data and Cushing-like symptoms, and 24-h PT levels were analyzed in each period, retrospectively. The 95% confidence intervals for the means of 24-h PT levels in the excessive, good and poor control periods were 0.24–2.24 (n=25), 2.88–4.92 (n=114) and 13.26–21.28 (n=72) mg/gCr, respectively. Subsequently, 24-h PT and morning PT levels collected on the same day were analyzed for 14 participants (aged 9 mo to 29 yr and 8 mo). There was a significant correlation between the above two PT levels (n=25, p<0.0001). When the 24-h PT range of the good control period, 2.88–4.92 mg/gCr, was adjusted by the correlation, the ideal morning PT range became 2.15–3.34 mg/gCr. In conclusion, a morning PT in the range of 2.2–3.3 mg/gCr can be used as an index of optimal control in patients with CYP21 deficiency.

show abstract

Section: Introductionmentioning

confidence: 99%

The Range of 2.2-3.3 mg/gCr of Pregnanetriol in the First Morning Urine Sample as an Index of Optimal Control in CYP21 Deficiency

Izawa

Aso

Higuchi

et al. 2008

Clin Pediatr Endocrinol

View full text Add to dashboard Cite

show abstract

“…Auxological data is the most reliable index of the therapeutic conditions over a long-range period. On the other hand, biochemical measurements have been used as indexes of the therapeutic condition over a shorter-range periods, and previous studies have shown their values (5,6,7,8,9,10). PT is one of these indexes and it can be used as a more stable index than 17OHP.…”

Section: Discussionmentioning

confidence: 99%

“…Therefore, the usefulness of our values of PT were not proven in infantile and pubertal periods in this study. A previous study has shown that the ranges of PT indicating optimal control in patients with CYP21A2 deficiency were 0.05–0.2, 0.2–1.5 and 0.5–3.0 mg/day in the infantile, child and adult periods, respectively (6). When these ranges were adjusted for body surface areas of infants (from 3–24 mo of age; 0.33–0.52 m 2 ) (12), children (from 6–10 yr of age; 0.83–1.16 m 2 ) (13) and adults (1.73 m 2 ), they became 0.1–0.61, 0.17–1.81, and 0.28–1.73 mg/m 2 /day in the infantile, child and adult periods, respectively.…”

Section: Discussionmentioning

confidence: 99%

See 1 more Smart Citation

Pregnanetriol in the Range of 1.2-2.1mg/m2/day as an Index of Optimal Control in CYP21A2 Deficiency

Izawa

Aso

Higuchi

et al. 2007

Clin Pediatr Endocrinol

View full text Add to dashboard Cite

Auxological data is the gold standard index of the therapeutic condition in CYP21A2 deficiency over a long-range period, whereas urinary pregnanetriol for 24 h (PT) is variable for a shorter-range period. Ideal PT levels in comparison with auxological data have not been reported. The main purpose of this study was to analyze ideal PT values as an index of optimal control for CYP21A2 deficiency. First, inter-daily fluctuation of PT was analyzed in one participant. PT levels were distributed over a wide range of 0.44–14.7 mg/day (n=42) in this participant, suggesting that the therapeutic condition should be judged by multiple PT samples. Second, the therapeutic periods of 15 participants with CYP21A2 deficiency were classified using auxological data and Cushing-like symptoms, and the PT levels were analyzed in each period retrospectively. The 95% confidence intervals for the means of the PT levels in the excessive, good and poor control periods were 0.03–1.25 (n=26), 1.23–2.09 (n=116), and 5.35–8.37 (n=72) mg/m2/day, respectively. In conclusion, 1.2–2.1 mg/m2/day of PT values can be used as an index of optimal control in CYP21A2 deficiency.

show abstract

“…The response may be quite favorable in cases of CAH, and an analogy to adrenal tumors associated with Cushing's syndrome is potentially misleading. A recent report of a case of an adult with CAH that was diagnosed after incidental discovery of adrenal enlargement on computed tomography documented a 50% reduction in tumor size after 5 …”

mentioning

confidence: 99%

Adrenal Tumor Complicating Untreated 21 -Hydroxylase Deficiency in a 5½-Year-Old Boy

Khardori¹

1994

Arch Pediatr Adolesc Med

View full text Add to dashboard Cite

Diagnosis of homozygosity and heterozygosity in congenital adrenal hyperplasia (CAH) and control of treatment

Cited by 24 publications

References 27 publications

The Range of 2.2-3.3 mg/gCr of Pregnanetriol in the First Morning Urine Sample as an Index of Optimal Control in CYP21 Deficiency

The Range of 2.2-3.3 mg/gCr of Pregnanetriol in the First Morning Urine Sample as an Index of Optimal Control in CYP21 Deficiency

Pregnanetriol in the Range of 1.2-2.1mg/m2/day as an Index of Optimal Control in CYP21A2 Deficiency

Adrenal Tumor Complicating Untreated 21 -Hydroxylase Deficiency in a 5½-Year-Old Boy

Contact Info

Product

Resources

About