7 Αποτελέσματα
BACKGROUND
Measurement of 17-hydroxyprogesterone (17-OHP) in dried blood spots has been widely used as a newborn screening tool for congenital adrenal hyperplasia (CAH). Various maternal and neonatal factors can result in falsely high values of 17-OHP. There is a paucity of Indian studies in this
A 6 year-old boy presented with peripheral precocious puberty and was diagnosed as having simple virilizing 21-hydroxylase deficiency based on clinical features and elevated 17-hydroxyprogesterone levels on ACTH stimulation. He was managed with glucocorticoids and mineralocorticoids. Two years later
Hormonal measurements in maternal urine and amniotic fluid (AF) during pregnancy and/or at delivery correctly predicted the postnatal diagnosis of 11 beta-hydroxylase deficiency congenital adrenal hyperplasia (11 beta-OH deficiency CAH) in 7 fetuses at risk. In the 4 affected ones, maternal urinary
BACKGROUND
X-linked congenital adrenal hypoplasia is a rare developmental disorder of the human adrenal cortex and is caused by deletion or mutation of the dosage-sensitive sex reversal adrenal hypoplasia congenita critical region of the X chromosome, gene 1 (DAX-1) gene. Most affected children
We report a novel NR0B1 mutation in a patient affected with X-linked adrenal hypoplasia congenita (X-AHC). The proband first presented with a generalized convulsion at 11 years, 4 months. His clinical and biochemical presentations were consistent with adrenal insufficiency. His basal
A rare form of congenital adrenal hyperplasia (CAH), 11 beta-hydroxylase deficiency, may be misdiagnosed as 21-hydroxylase deficiency, the most common form of CAH, because of similar clinical presentations at times and elevated level of 17-hydroxyprogesterone in both conditions. We report a case of
To investigate the adrenocortical suppression caused by the anesthetic etomidate, plasma levels of progesterone (P), 17-hydroxyprogesterone (17-OHP), 11-deoxycorticosterone (DOC), corticosterone (B), aldosterone (Aldo), 11-deoxycortisol (S), cortisol (F), and cortisone (E) were measured