Results 241 to 250 of about 75,903 (304)
Some of the next articles are maybe not open access.
Annals of the New York Academy of Sciences, 1997
A deficiency of 21-hydroxylase in the adrenal cortex results in insufficient cortisol production. The salt-wasting form of21-hydroxylase deficiency is characterized by inadequate aldosterone production, as well. Because the hypothalamic-adr enal negative feedback system is broken, excess adrenal androgens are produced.
R S, Newfield, M I, New
openaire +2 more sources
A deficiency of 21-hydroxylase in the adrenal cortex results in insufficient cortisol production. The salt-wasting form of21-hydroxylase deficiency is characterized by inadequate aldosterone production, as well. Because the hypothalamic-adr enal negative feedback system is broken, excess adrenal androgens are produced.
R S, Newfield, M I, New
openaire +2 more sources
Nonclassic 21-Hydroxylase Deficiency in Croatia
Journal of Pediatric Endocrinology and Metabolism, 2004This is the first report of nonclassic congenital adrenal hyperplasia due to 21-hydroxylase (21-OH) deficiency in Croatia in which the patients have been evaluated clinically, hormonally, and by molecular genetic analysis. Genetic analysis was performed on 18 Croatian patients with nonclassic CAH due to 21-OH deficiency using allele-specific PCR.
Dumić, Miroslav +10 more
openaire +4 more sources
Late-Onset 21-Hydroxylase Deficiency
Annals of Internal Medicine, 1982Excerpt To the editor: Since our article on the diagnosis of late-onset 21-hydroxylase deficiency was published (1), we have been asked the best way to do the 30-minute adrenocorticotrophic hormone...
G P, Chrousos +3 more
openaire +2 more sources
Recent Advances in 21-Hydroxylase Deficiency
Annual Review of Medicine, 1984A deficiency of 21-hydroxylase in the adrenal cortex results in insufficient cortisol production. The salt-wasting form of 21-hydroxylase deficiency is characterized by inadequate aldosterone production, as well. Because the hypothalamic-adrenal negative feedback system is broken, excess adrenal androgens are produced.
M I, New, L S, Levine
openaire +2 more sources
Epidemiology of 21-Hydroxylase Deficiency in Singapore
Journal of Pediatric Endocrinology and Metabolism, 2002We report the incidence and epidemiology of 21-hydroxylase deficiency in Singapore, based on a retrospective study of all known patients diagnosed with classical 21-hydroxylase deficiency in the past 21 years. The database was obtained from the case registry and questionnaire methodology, with 100% coverage of all practising pediatricians in Singapore.
Loke, K.Y. +3 more
openaire +2 more sources
Nonclassic 21-Hydroxylase Deficiency
Seminars in Reproductive Medicine, 2002The nonclassic form of adrenal hyperplasia (NCAH) has been increasingly recognized in adolescent or adult hyperandrogenic patients. It is now widely accepted that neither the clinical presentation nor the androgen plasma levels can be used for the screening or diagnosis of NCAH in hyperandrogenic women, especially those presenting with a phenotype like
openaire +2 more sources
Nonclassic 21-hydroxylase deficiency
Fertility and Sterility, 2006Nonclassic 21-hydroxylase deficiency is a frequent autosomal recessive disorder which causes decreased fertility and is easily treated. It occurs with the highest frequency of any other autosomal recessive disorder in humans.
openaire +2 more sources
Steroid 21-Hydroxylase Deficiency in Mice*
Endocrinology, 1988The enzyme steroid 21-hydroxylase (21-OHase) plays a key role in adrenal steroidogenesis. Defects in this enzyme are responsible for one of the most common inborn errors of metabolism in humans. Duplicated genes for the enzyme are located in the class III region of the major histocompatibility complex (MHC), HLA.
H, Gotoh +4 more
openaire +2 more sources
Molecular pathology of 21‐hydroxylase deficiency
Journal of Inherited Metabolic Disease, 1994SummarySteroid 21‐hydroxylase deficiency is a recessively inherited disorder of adrenal steroidogenesis. Different clinical variants map to a single geneCYP21B, which maps within the HLA complex and is located about 30 kb proximal to a very closely related 21‐hydroxylase pseudogene,CYP21A.
openaire +2 more sources
Phenotypic evolution of classic 21-hydroxylase deficiency
Clinical Endocrinology, 1996SummaryWe describe a female patient who was diagnosed and treated at birth for a classic form of salt‐losing congenital adrenal hyperplasia. At 17 years of age, against medical advice, she discontinued both mineralocorticoid and glucocorticoid replacement with no resulting clinical symptoms other than the occurrence of amenorrhoea.
W H, Hoffman +6 more
openaire +2 more sources