Results 11 to 20 of about 119,685 (338)

Best Practice for Identification of Classical 21-Hydroxylase Deficiency Should Include 21 Deoxycortisol Analysis with Appropriate Isomeric Steroid Separation

International Journal of Neonatal Screening, 2023
There are mixed reports on the inclusion and use of 21 deoxycortisol (21DF) as the primary decision marker for classical 21-hydroxylase deficiency.
Ronda F. Greaves, Monish Kumar, Nazha Mawad, Alberto Francescon, Chris Le, Michele O’Connell, James Chi, James Pitt   +7 more
doaj   +1 more source

Mass spectrometry: an essential tool to be used in discrimination between causes of congenital adrenal hyperplasia, and its benefits versus radioimmunoassay

Beni-Suef University Journal of Basic and Applied Sciences, 2021
Background Measurement of multiple steroids, 17 hydroxyprogesterone, 11 deoxycortisol, and 21 deoxycortisol, is required to discriminate between congenital adrenal hyperplasia due to 21 hydroxylase deficiency and that due to 11 beta hydroxylase ...
Heba Asfour, Heba Baz, Hend Soliman, Yasmine Elshiwy, Marwa Elsharkawy, Fatma Elmougy, Marianne Morgan   +6 more
doaj   +1 more source

NON-CLASSIC 21 HYDROXYLASE DEFICIENCY CAUSED BY NEW COMPOUND HETEROZYGOUS MUTATIONS: A CASE REPORT AND LITERATURE REVIEW [PDF]

精准医学杂志, 2023
Objective To report the genetic information of a patient with non-classic 21 hydroxylase deficiency (21-OHD) for enriching the genetic database of this disease.
QI Mengmeng, WANG Xuemei, LIU Yunting, WANG Qian, XIN Qianyu, LIN Hua, LYU Wenshan, YANG Lili
doaj   +1 more source

Prior to versus after Metformin Treatment—Effects on Steroid Enzymatic Activities

Life, 2023
Background: We recently reported that metformin administration has substantial effects on steroid hormone concentrations. In this study, we specifically explored which enzymatic activities were affected before a first treatment versus after a time of ...
Benedikt Gasser, Genevieve Escher, Anca-Elena Calin, Michael Deppeler, Miriam Marchon, Hiten D. Mistry, Johann Kurz, Markus G. Mohaupt   +7 more
doaj   +1 more source

Fertility and body composition after laparoscopic bilateral adrenalectomy in a 30-year-old female with congenital adrenal hyperplasia [PDF]

, 2001
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is caused by an inborn defect in the 21-hydroxylase gene (CYP21), leading to virilization of female patients and causing ambiguous genitals in the majority of ...
Bonjer, H.J. (Jaap), Bootsma, A.H. (Aart), Bruining, H.A. (Hajo), Jong, F.H. (Frank) de, Koper, J.W. (Jan), Lamberts, S.W.J. (Steven)   +5 more
core   +6 more sources

21-Hydroxylase-Specific CD8+ T Cells in Autoimmune Addison’s Disease Are Restricted by HLA-A2 and HLA-C7 Molecules

Frontiers in Immunology, 2021
ObjectivesCD8+ T cells targeting 21-hydroxylase (21OH) are presumed to play a central role in the destruction of adrenocortical cells in autoimmune Addison’s disease (AAD).
Alexander Hellesen, Alexander Hellesen, Sigrid Aslaksen, Sigrid Aslaksen, Lars Breivik, Lars Breivik, Lars Breivik, Ellen Christine Røyrvik, Ellen Christine Røyrvik, Øyvind Bruserud, Øyvind Bruserud, Kine Edvardsen, Karl Albert Brokstad, Karl Albert Brokstad, Anette Susanne Bøe Wolff, Anette Susanne Bøe Wolff, Anette Susanne Bøe Wolff, Eystein Sverre Husebye, Eystein Sverre Husebye, Eystein Sverre Husebye, Eirik Bratland, Eirik Bratland, Eirik Bratland   +22 more
doaj   +1 more source

Congenital adrenal hyperplasia [PDF]

Medicinski Podmladak, 2021
Congenital adrenal hyperplasia is a disease in which a gene mutation, which is inherited in an autosomal recessive manner, causes a disorder in the synthesis of enzymes that create glucocorticoids, mineralocorticoids, or sex steroids from adrenal ...
Miolski Jelena, Ješić Maja, Zdravković Vera   +2 more
doaj   +1 more source

Non-Classic Congenital Adrenal Hyperplasia in Childhood: A Review

Sexes, 2023
Congenital adrenal hyperplasia (CAH) is a heterogeneous group of autosomal recessive disorders due to defects in adrenal steroid biosynthesis. In about 90% of patients, CAH is caused by pathogenetic variants in CYP21A2 gene, impairing the function of 21 ...
Giulia Bertolucci, Nina Tyutyusheva, Margherita Sepich, Fulvia Baldinotti, Maria Adelaide Caligo, Maria Rita Sessa, Diego Giampiero Peroni, Silvano Bertelloni   +7 more
doaj   +1 more source

Monitoring treatment in pediatric patients with 21-hydroxylase deficiency

Frontiers in Endocrinology, 2023
21-hydroxylase deficiency (21-OHD) is the most common form of congenital adrenal hyperplasia. In most developed countries, newborn screening enables diagnosis of 21-OHD in asymptomatic patients during the neonatal period.
Tomoyo Itonaga, Yukihiro Hasegawa, Yukihiro Hasegawa   +2 more
doaj   +1 more source

The impact of 21-hydroxylase deficiency on cardiac repolarization changes in children with 21-hydroxylasedeficient congenital adrenal hyperplasia

The Turkish Journal of Pediatrics, 2019
21-hydroxylase-deficient congenital adrenal hyperplasia (CAH) is associated with cardiovascular risk factors such as, hypertension, obesity, dyslipidemia, and insulin resistance.
Hüseyin Anıl Korkmaz, Rahmi Özdemir, Mehmet Küçük, Cem Karadeniz, Timur Meşe, Behzat Özkan   +5 more
doaj   +1 more source