Results 31 to 40 of about 75,592 (343)

11-Oxygenated Androgens Useful in the Setting of Discrepant Conventional Biomarkers in 21-Hydroxylase Deficiency.

Journal of the Endocrine Society, 2020
Context Serum 17-hydroxyprogesterone (17OHP) and androstenedione (A4) are the conventional biomarkers used to assess disease control in patients with 21-hydroxylase deficiency (21OHD).
S. Jha, Adina F. Turcu, N. Sinaii, Brittany Brookner, R. Auchus, D. Merke   +5 more
semanticscholar   +1 more source

The prevalence of chimeric TNXA/TNXB gene and clinical symptoms of Ehlers-Danlos syndrome with 21-hydroxylase deficiency.

Journal of Clinical Endocrinology and Metabolism, 2020
PURPOSE Defects in both CYP21A2 and TNXB genes can cause congenital adrenal hyperplasia combined with hypermobility type Ehlers-Danlos syndrome, which has recently been named CAH-X syndrome.
Yinjie Gao, Lin Lu, Bingqing Yu, J. Mao, Xi Wang, M. Nie, Xueyan Wu   +6 more
semanticscholar   +1 more source

Management issues of congenital adrenal hyperplasia during the transition from pediatric to adult care [PDF]

Korean Journal of Pediatrics, 2017
Steroid 21-hydroxylase deficiency is the most prevalent form of congenital adrenal hyperplasia (CAH), accounting for approximately 95% of cases. With the advent of newborn screening and hormone replacement therapy, most children with CAH survive into ...
Jin-Ho Choi, Han-Wook Yoo
doaj   +1 more source

Clinical outcomes and characteristics of P30L mutations in congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Endocrine, 2020
Despite numerous studies in the field of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, some clinical variability of the presentation and discrepancies in the genotype/phenotype correlation are still unexplained. Some, but not all,
M. Kocova, V. Anastasovska, H. Falhammar
semanticscholar   +1 more source

Congenital Adrenal Hyperplasias Presenting in the Newborn and Young Infant

Frontiers in Pediatrics, 2020
Congenital adrenal hyperplasia includes autosomal recessive conditions that affect the adrenal cortex steroidogenic enzymes (cholesterol side-chain cleavage enzyme; 3β-hydroxysteroid dehydrogenase; 17α-hydroxylase/17,20 lyase; P450 oxidoreductase; 21 ...
Antonio Balsamo, Federico Baronio, Rita Ortolano, Soara Menabo, Lilia Baldazzi, Valeria Di Natale, Sofia Vissani, Alessandra Cassio   +7 more
doaj   +1 more source

Measurement of 17-Hydroxyprogesterone by LCMSMS Improves Newborn Screening for CAH Due to 21-Hydroxylase Deficiency in New Zealand

International Journal of Neonatal Screening, 2020
The positive predictive value of newborn screening for congenital adrenal hyperplasia due to 21-hydroxylase deficiency was
Mark R de Hora, N. Heather, T. Patel, Lauren G Bresnahan, D. Webster, P. Hofman   +5 more
semanticscholar   +1 more source

Compliance Issues in Managing 21 Hydroxylase Deficiency and their Short/Long-Term Consequences

European Journal of Case Reports in Internal Medicine, 2021
Objective: To report a case of untreated classic 21 hydroxylase (OH) deficiency congenital adrenal hyperplasia (CAH) in a transgender patient resulting in pulmonary embolisms (PEs) and bilateral adrenal masses.
Jack Lin, Teck K Khoo, Erin R Voelschow, Zachary J Viets   +3 more
doaj   +1 more source

Obesity in 21-hydroxylase deficient patients [PDF]

Archives of Disease in Childhood, 1998
To evaluate the natural history and timing of adiposity rebound (nadir of body mass index (BMI)) in children with congenital adrenal hyperplasia 21-hydroxylase deficiency (CYP21).A retrospective mixed longitudinal study.Height and changes in body composition (BMI; weight (kg)/height2 (m)), triceps and subscapular skinfolds) were analysed in 22 (14 ...
R E, Cornean, P C, Hindmarsh, C G, Brook
openaire   +2 more sources

Late consequences of classic congenital adrenal hyperplasia and its long-term poor control in men (case report and literature review)

Ожирение и метаболизм, 2019
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (21-OHD) is an autosomal recessive disorder of the adrenal cortex characterized by impairment of cortisol biosynthesis (with possible impairment of aldosterone biosynthesis) and ...
Boris M. Shifman, Larisa K. Dzeranova, Ekaterina A. Pigarova, Anatoly N. Tiulpakov, Natalia S. Fedorova   +4 more
doaj   +1 more source

Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency

Frontiers in Endocrinology, 2023
ObjectiveTo analyze the mutational spectrum, clinical characteristics, genotype–phenotype correlations, testicular adrenal rests tumor prevalence, and role of neonatal screening in congenital adrenal hyperplasia (CAH) patients from Slovakia and Slovenia ...
Robert Saho, Robert Saho, Vita Dolzan, Mojca Zerjav Tansek, Mojca Zerjav Tansek, Andrea Pastorakova, Robert Petrovic, Maria Knapkova, Katarina Trebusak Podkrajsek, Katarina Trebusak Podkrajsek, Jasna Suput Omladic, Jasna Suput Omladic, Sara Bertok, Magdalena Avbelj Stefanija, Magdalena Avbelj Stefanija, Primoz Kotnik, Primoz Kotnik, Tadej Battelino, Tadej Battelino, Zuzana Pribilincova, Urh Groselj, Urh Groselj   +21 more
doaj   +1 more source