21-hydroxylase deficiency

(redirected from Congenital adrenal hyperplasia due to 21-hydroxylase deficiency)
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21-hydroxylase deficiency

one form of congenital adrenal hyperplasia, with variable presentations, including severe or simple virilizing, salt-wasting, or nonclassic types.
Farlex Partner Medical Dictionary © Farlex 2012

21-hy·drox·y·lase de·fi·cien·cy

(hī-drok'si-lās dĕ-fish'ĕn-sē)
One form of congenital adrenal hyperplasia, with variable presentations, including simple virilizing, salt-wasting, and nonclassic types.
Medical Dictionary for the Health Professions and Nursing © Farlex 2012
References in periodicals archive ?
Procedure for neonatal screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Horm Res 2001;55:201-205.
Sacerdote, "Metformin-responsive classic salt-losing congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a case report," Endocrine Practice, vol.
Willis et al., "Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency: analysis of the United Kingdom congenital adrenal hyperplasia adult study executive (CaHASE) cohort," Journal of Clinical Endocrinology and Metabolism, vol.
Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Human Reproduction Update 2004; 10(6): 469-85
Disease expression and molecular genotype in congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Clin Invest 1992;90:584-95.
Testicular tumors in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency show functional features of adrenocortical tissue.
Forest MG, Recent advances in the diagnosis and management of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Hum Reprod Update 2004; 10: 469-85.
LISBON -- Women who receive long-term glucocorticoid treatment for congenital adrenal hyperplasia due to 21-hydroxylase deficiency are at risk for decreased bone mineral density, Jeremy A.
The diagnosis of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, based on serum basal or post-ACTH stimulation 17-hydroxyprogesterone, can lead to false-positive diagnosis.
Prenatal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. N Engl J Med 1990;322:111-5.
Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics 1998;81:866-74.
Prenatal treatment in congenital adrenal hyperplasia due to 21-hydroxylase deficiency: up-date 88 of the French multicentric study.

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