Frequency and causes of adrenal crises over lifetime in patients with 21-hydroxylase deficiency
نویسندگان
چکیده
منابع مشابه
Two Adults with Adrenal Myelolipoma and 21-Hydroxylase Deficiency
We present incidentally discovered adrenal myelolipomas in two adult males with untreated congenital adrenal hyperplasia (CAH). The patients had simple virilizing form of CAH due to mutations in the CYP21 gene coding for 21-hydroxylase; one was heterozygous for the I172N mutation and the other compound heterozygous for the I172N and I2splice mutations. The masses were not removed since myelolip...
متن کاملTreatment and Outcome of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency
The use of glucocorticoids to treat individuals with congenital adrenal hyperplasia (CAH) was first reported by both Wilkins and Bartter in 1950. Since that time, the care of these patients has improved dramatically, and through the efforts of dedicated medical researchers, it continues to improve today. With early detection by newborn screening, initiation of treatment in infants with salt-was...
متن کاملHigh frequency of Q318X mutation in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency in northeast Brazil.
OBJECTIVES Deficiency of 21-hydroxylase is the most common form of congenital adrenal hyperplasia (CAH-21OH). The aim of this study was to determine, by allele-specific PCR, the frequency of microconversions of the CYP21A2, in sixteen patients with the classical forms and in 5 patients with the nonclassical (NC) form of CAH-21OH and correlate genotype with phenotype. METHODS Genotypes were cl...
متن کاملBioavailability of oral hydrocortisone in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
The management of congenital adrenal hyperplasia due to 21-hydroxylase (CYP21) deficiency requires glucocorticoid substitution with oral hydrocortisone given twice or thrice daily. In paediatric practice little is known of the bioavailability of oral hydrocortisone tablets used in these patients. The aim of this study was to assess the bioavailability of oral hydrocortisone and to evaluate curr...
متن کاملAdrenocortical tumor in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Adrenocortical tumour have been described in patients with 21-hydroxylase deficiency. These tumours are usually considered to be ACTH – dependent, as diffuse adrenal cortical hyperplasia is commonly seen. We report adrenal cortical tissue tumours developed in three patients with untreated congenital adrenal hyperplasia due to 21-hydroxylase deficiency. All of them had symptoms of adrenogenital ...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: European Journal of Endocrinology
سال: 2012
ISSN: 0804-4643,1479-683X
DOI: 10.1530/eje-12-0161