|1.||New, Maria I: 24 articles (06/2014 - 02/2002)|
|2.||Merke, Deborah P: 21 articles (08/2015 - 02/2002)|
|3.||Krone, Nils: 12 articles (11/2013 - 06/2002)|
|4.||Arlt, Wiebke: 11 articles (06/2014 - 06/2004)|
|5.||Lee, Hsien-Hsiung: 11 articles (01/2014 - 01/2002)|
|6.||Nimkarn, Saroj: 11 articles (10/2011 - 08/2006)|
|7.||Falhammar, Henrik: 10 articles (11/2015 - 01/2007)|
|8.||Husebye, Eystein S: 10 articles (03/2015 - 01/2004)|
|9.||Otten, Barto J: 10 articles (02/2015 - 03/2003)|
|10.||Concolino, Paola: 10 articles (01/2014 - 02/2006)|
|1.||Congenital Adrenal Hyperplasia (Hyperplasia, Congenital Adrenal)
04/01/1993 - "Prenatal diagnosis of 21-hydroxylase deficiency, the most common cause of congenital adrenal hyperplasia (CAH), has benefited from the advances in endocrinologic and molecular genetic studies. "
10/01/2006 - "Congenital adrenal hyperplasia with 21-hydroxylase defect appears to be the most frequent cause, but the neonatal screening has improved its potential severe outcome. "
01/22/1987 - "Our experience indicates that improved surgical correction of the external genitalia and better compliance with therapy will be necessary to improve fertility rates among women with congenital adrenal hyperplasia due to 21-hydroxylase deficiency."
09/01/2001 - "Reverse dot-blot hybridization as an improved tool for the molecular diagnosis of point mutations in congenital adrenal hyperplasia caused by 21-hydroxylase deficiency."
04/01/1992 - "We present an improved method for the prenatal diagnosis of congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. "
|2.||Addison Disease (Addison's Disease)
12/01/2014 - "Steroid 21-hydroxylase, encoded by CYP21A2, is the major autoantigen in autoimmune Addison's disease (AAD). "
10/01/2014 - "HLA similarities indicate shared genetic risk in 21-hydroxylase autoantibody positive South African and United States Addison's disease."
11/01/2010 - "21-hydroxylase autoantibody (21OHAb) is considered as a valuable marker for identifying patients with autoimmune Addison's disease (AD); however, it is not available in some countries. "
05/01/2006 - "The steroidogenic enzyme 21-hydroxylase (21OH) is the main autoantigen in autoimmune primary adrenal failure (Addison's disease). "
10/01/2004 - "In the present report, we show the prevalence of different etiologies, clinical manifestations and laboratorial findings, including the adrenal cortex autoantibody, and 21-hydroxylase antibody in a Brazilian series of patients with primary adrenal insufficiency followed at Divisão de Endocrinologia da Universidade Federal de São Paulo (UNIFESP) and at Faculdade de Medicina de Ribeirão Preto-USP (FMRP-USP)."
06/01/2015 - "Nonclassical 21-hydroxylase deficiency (NC21OHD) manifests with various degrees of post natal virilization. "
01/01/2015 - "The most common type is associated with mutations in the CYP21A2 gene, encoding 21-hydroxylase enzyme and has different clinical forms: Classical (in which there are two types: salt wasting and simple virilization) and non-classical, characterized by less severe symptoms and late onset. "
01/01/2013 - "Prenatal glucocorticoid (GC) treatment of the female fetus with 21-hydroxylase deficiency (21-OHD) may prevent genital virilization and androgen effects on the brain, but prenatal GC therapy is controversial because of possible adverse effects on fetal programming, the cardiovascular system and the brain. "
05/01/2012 - "Postnatal virilization in sick premature girls may occur, and investigations may suggest 21-hydroxylase deficiency. "
05/01/2012 - "Postnatal virilization mimicking 21-hydroxylase deficiency in 3 very premature infants."
|4.||Hypertension (High Blood Pressure)
02/01/2011 - "Early hypertension and prolonged mineralocorticoid therapy discontinuation in a child with salt-wasting 21-hydroxylase deficiency."
12/01/2006 - "Observation of hypertension in children with 21-hydroxylase deficiency: a preliminary report."
03/01/1988 - "While in essential hypertension the excretion of K-M1 was predominantly within the normal range, elevated values were found in most cases of 21-hydroxylase deficiency, both the simple virilizing and salt losing form, primary aldosteronism, renal hypertension and cystinosis. "
01/01/2015 - " lies upon elevated 11-deoxycortisol and DOC plus upstream precursors, such as 17α-hydroxyprogesterone and Δ4-androstenedione.The established treatment of steroid 11β-OHD is similar to that of steroid 21-hydroxylase deficiency and consists of glucocorticoid administration in order to reduce ACTH-driven DOC overproduction resulting in hypertension remission and improvement of the virilization symptoms."
|5.||Cystic Fibrosis (Mucoviscidosis)
09/01/2013 - "The protocol was standardized on a variety of known mutations, in 11 patients with cystic fibrosis (CF), Fabry's disease (FD), steroid 21-hydroxylase deficiency (21-HD), and Duchenne/Becker muscular dystrophy (DMD/BMD). "
11/01/2007 - "The protocol was standardized on a variety of known mutations, in 11 patients with cystic fibrosis (CF), Fabry's disease (FD), steroid 21-hydroxylase deficiency (21-HD) and Duchenne/Becker muscular dystrophy (DMD/BMD). "
01/01/1988 - "There is some controversy concerning the list of diseases recommended for mass screening, among them four can be discussed: congenital adrenal hyperplasia, due to 21-hydroxylase deficiency, fulfils most of the criteria, but some changes in the general screening strategy should be made to provide a result as soon as possible, and at least before the 10th day of life; cystic fibrosis, immunoreactive trypsin is a good marker of the disease but its assay needs technical adaptation for mass screening; more information are also required about the efficacy of an early management of the disease; Duchenne muscular dystrophy has a good marker for neonatal screening (creatine kinase), but no treatment exists and the possibility of genetic counselling can only be provided; hypercholesterolaemia is a frequent disease; however, the good marker and the adequate treatment remain to be defined. "
11/01/1995 - "We have determined human leucocyte antigen class I (A and B) and class II (DR) phenotypes by serological tissue typing and class II (DR and DQ) and class III (complement component C4 and 21-hydroxylase) gene polymorphisms in 274 children and young adults with cystic fibrosis, of whom 82 had evidence of chronic liver disease with portal hypertension in 49, and 146 healthy controls. "
|2.||Adrenocorticotropic Hormone (ACTH)
|3.||Steroid 11-beta-Hydroxylase (11 beta-Hydroxylase)
|4.||Cortodoxone (11 Deoxycortisol)
|5.||Biological Markers (Surrogate Marker)
|7.||Creatine Kinase (Creatine Phosphokinase)
|8.||17-alpha-Hydroxyprogesterone (17 Hydroxyprogesterone)
|4.||Drug Therapy (Chemotherapy)