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 rev...

Although congenital adrenal hyperplasia due to 3beta-hydroxysteroid dehydrogenase deficiency generally reveals a predominance of Delta(5)-3beta-hydroxysteroids, on occasion substantial quantities of pregnanetriol have been found as well. It appears that the latter steroid more often occurs in the subjects who have survived beyond infancy. The use of the measurement of pregnanetriol alone may th...

DNA was analysed from 33 patients with congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. In each case Southern blots were prepared from a number of restriction enzyme digests and hybridised with probes for both the 21-hydroxylase and the adjacent fourth component of complement (C4). Evidence for deletion of the active 21-hydroxylase gene (CYP21B) was found in 13 cases and...

The term congenital adrenal hyperplasia (CAH) covers a group of autosomal recessive disorders caused by defects in one of the steroidogenic enzymes involved in the synthesis of cortisol or aldosterone from cholesterol in the adrenal glands. Approximately 95% of all CAH cases are caused by 21-hydroxylase deficiency encoded by the CYP21A2 gene. The disorder is categorized into classical forms, in...

17-α-hydroxylase enzyme has a crucial role in the steroid biosynthesis and, deficiency of this enzyme is an autosomal recessive monogenic disorder which is one of the two hypertensive form of congenital adrenal hyperplasia. It is characterized with the deficiency in glucocorticoid, adrenal androgen, and sex steroid synthesis with concomitant mineralocorticoid excess due to genetic defect in ste...

Blood spot 17-hydroxyprogesterone concentrations were measured serially over 24 hours in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency before they started treatment with glucocorticoids, and the development of diurnal rhythm in pituitary-adrenal activity was studied. Five infants aged 2 to 26 days showed an intradiem variation of 17-hydroxyprogesterone concentrat...

Atherden, S. M., Edmunds, A. T., and Grant, D. B. (1974). Archives of Disease in Childhood, 49, 192. Plasma 17-hydroxyprogesterone in newborn infants with congenital adrenal hyperplasia and in infants with normal adrenal function. Plasma 17-hydroxyprogesterone (17-OHP) was estimated in 9 infants aged 6 to 12 days with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency. Raised...

Our research team and laboratories have concentrated on two inherited endocrine disorders, congenital adrenal hyperplasia (CAH) and apparent mineralocorticoid excess, in thier investigations of the pathophysiology of adrenal steroid hormone disorders in children. CAH refers to a family of inherited disorders in which defects occur in one of the enzymatic steps required to synthesize cortisol fr...