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, Masako; Aso, Keiko; Higuchi, Asako; Ariyasu, Daisuke; Hasegawa, Yukihiro

doi:10.1297/cpe.17.75

Cited by 9 publications

(25 citation statements)

References 9 publications

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“…The treatment in the three NC cases in the current study began earlier than recommended in the guidelines mentioned above because we believe that follow-up biochemical data, especially the peak serum cortisol level determined using the ACTH stimulation test and urine pregnanetriol levels, are important to achieve the goal of treating childhood 21-OHD. Notably, the ACTH stimulation test has already been established as a diagnostic method for adrenal insufficiency (28), and increased urine pregnanetriol levels have been previously reported to be associated with symptoms of childhood 21-OHD, such as pubarche and growth acceleration (21). Clin Pediatr Endocrinol…”

Section: Discussionmentioning

confidence: 99%

“…1a). At the last visit (age 12 yr), she received hydrocortisone (23 mg/m 2 /d) and fludrocortisone (0.05 mg/d); the doses were administered based on the assessment of overnight fasting pregnanetriol levels (21) and plasma renin activity before the drugs in the morning.…”

Section: Casementioning

confidence: 99%

“…After his first visit, his 17-OHP levels gradually increased to 13.0 ng/mL at 12 d of age and 51.4 ng/mL at 1 mo of age. At 6 mo of age, treatment with hydrocortisone and fludrocortisone was initiated due to hyperkalemia (5.6 mEq/L), and elevated 17-OHP levels (140 ng/mL), high first morning urine pregnanetriol levels (7.8 mg/gCr; target value, 2.2-3.3 mg/gCr) (21), and increased plasma renin activity (16.8 ng/mL/h) were observed; however, no clinical symptoms were observed. His growth curve up to the age of 2 yr showed no growth acceleration or failure to thrive (Fig.…”

Section: Cases 3 Andmentioning

confidence: 99%

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Therapeutic needs from early childhood in four patients with 21-hydroxylase deficiency harboring the P30L mutation on one allele

Itonaga

Akiba

Hasegawa

2021

Clin Pediatr Endocrinol

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21-hydroxylase deficiency (21-OHD) is the most common type of congenital adrenal hyperplasia. Phenotypically, 21-OHD can be divided into classical and non-classical (NC) forms. The genotype-phenotype correlation in 21-OHD is well established. The P30L mutation is usually associated with the NC form and common among Japanese patients with the NC form of 21-OHD. Herein, we report the clinical course of four patients with 21-OHD with the P30L mutation on one allele and loss-of-function variants on the other allele. Contrary to the findings of most previous studies, all patients were treated with hydrocortisone, and two required fludrocortisone therapy in early childhood. The management strategies for patients with 21-OHD, especially those with the P30L mutation on at least one allele, should be determined based on the clinical phenotype predicted by the CYP21A2 genotype and individual clinical symptoms and biochemical data.

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Section: Discussionmentioning

confidence: 99%

Section: Casementioning

confidence: 99%

Section: Cases 3 Andmentioning

confidence: 99%

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Therapeutic needs from early childhood in four patients with 21-hydroxylase deficiency harboring the P30L mutation on one allele

Itonaga

Akiba

Hasegawa

2021

Clin Pediatr Endocrinol

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“…Normalized 17-OHP suggests an overdose of glucocorticoids. Monitoring using pregnanetriol (PT), a urinary metabolite of 17-OHP, by urine collection has also been proposed ( 7 , 112 , 113 , 114 ). In a study of 21-OHD in Japanese children, excluding the neonatal and pubertal stages, a PT range of 1.2–2.1 mg/m 2 /d was shown to indicate good control ( 113 ).…”

Section: Treatment Monitoring For Growing Childrenmentioning

confidence: 99%

Guidelines for diagnosis and treatment of 21-hydroxylase deficiency (2014 revision)

Ishii¹,

Anzo

Adachi

et al. 2015

Clin Pediatr Endocrinol

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Purpose of developing the guidelines: The first guidelines for diagnosis and treatment of 21-hydroxylase deficiency (21-OHD) were published as a diagnostic handbook in Japan in 1989, with a focus on patients with severe disease. The “Guidelines for Treatment of Congenital Adrenal Hyperplasia (21-Hydroxylase Deficiency) Found in Neonatal Mass Screening (1999 revision)” published in 1999 were revised to include 21-OHD patients with very mild or no clinical symptoms. Accumulation of cases and experience has subsequently improved diagnosis and treatment of the disease. Based on these findings, the Mass Screening Committee of the Japanese Society for Pediatric Endocrinology further revised the guidelines for diagnosis and treatment. Target disease/conditions: 21-hydroxylase deficiency. Users of the guidelines: Physician specialists in pediatric endocrinology, pediatric specialists, referring pediatric practitioners, general physicians; and patients.

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“…The target for 17OHP is reportedly 4-12 ng/mL before early morning medication, but this information is not based on auxological data ( 9 , 10 ). Our previous studies demonstrated that morning urine PT can be used as an index of control in prepubertal patients with 21-OHD based on height velocity, body weight, and bone age ( 11 , 12 ). According to these studies, 2.2-3.3 mg/gCr (95% confidence interval (CI) for the mean) and 0.59-6.0 mg/gCr (10th - 90th percentile) were proposed as the optimal range for the first morning urinary PT value ( 12 ).…”

Section: Introductionmentioning

confidence: 99%

First Morning Pregnanetriol and 17-Hydroxyprogesterone Correlated Significantly in 21-Hydroxylase Deficiency

Itonaga

Izawa²,

Hamajima³

et al. 2022

Front. Endocrinol.

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BackgroundBiochemically monitoring 21-hydroxylase deficiency (21-OHD) is challenging. Serum/blood 17-hydroxyprogesterone (17OHP) measurements are normally used for this purpose. Urinary pregnanetriol (PT), a urinary metabolite of 17OHP, may also be used. Based on auxological data, we previously reported that the optimal first morning PT value fell in the range of 2.2–3.3 mg/gCr (95% confidence interval of the mean) and 0.59-6.0 mg/gCr (10th – 90th percentile) for monitoring 21-OHD treatment. No report thus far has directly compared the first morning urinary PT value with the 17OHP value at various times during the day.ObjectiveTo explore the correlation between the first morning urinary PT value before glucocorticoid administration and the serum/blood 17OHP value at three time points, namely, before and two and four hours after glucocorticoid administration.DesignThis was a prospective study done at two children’s hospitals.MethodsIn total, 25 patients with 21-OHD aged 3-25 years were recruited. Their urinary PT levels and 17OHP levels were measured for three days within a total period of one week. The first morning PT value was collected on all three days. Dried blood spots and serum were used to measure 17OHP.ResultsThe range for the first morning PT value for all the samples (n=69) was 0.10-56.1 mg/gCr. A significant, positive correlation was found between the first morning PT and 17OHP values before medication (r=0.87, p<0.01), and weaker correlation was observed between the first morning PT and 17OHP values after medication.ConclusionsThe first morning PT correlated more significantly with 17OHP before the morning medication. Measuring the first morning PT value may be more practical and useful for monitoring 21-OHD biochemically.

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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

Cited by 9 publications

References 9 publications

Therapeutic needs from early childhood in four patients with 21-hydroxylase deficiency harboring the P30L mutation on one allele

Therapeutic needs from early childhood in four patients with 21-hydroxylase deficiency harboring the P30L mutation on one allele

Guidelines for diagnosis and treatment of 21-hydroxylase deficiency (2014 revision)

First Morning Pregnanetriol and 17-Hydroxyprogesterone Correlated Significantly in 21-Hydroxylase Deficiency

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