Results 31 to 40 of about 4,066 (184)

A 4-hour Profile of 17-hydroxyprogesterone in Salt-wasting Congenital Adrenal Hyperplasia: Is the Serial Monitoring Strategy Worth the Effort?

JCRPE, 2022
INTRODUCTION: Objective: Since there is no gold standard laboratory variable for adjustment of treatment in congenital adrenal hyperplasia (CAH), the aim was to assess the use of a 4-hour profile of serum 17-hydroxyprogesterone (17-OHP) to determine the ...
Özge Besci, İbrahim Mert Erbaş, Tuncay Küme, Kübra Yüksek Acinikli, Ayhan Abacı, Ece Böber, Korcan Demir   +6 more
doaj   +1 more source

Common genetic variants of the human steroid 21-hydroxylase gene (CYP21A2) are related to differences in circulating hormone levels. [PDF]

PLoS ONE, 2014
Systematic evaluation of the potential relationship between the common genetic variants of CYP21A2 and hormone levels.The relationships of CYP21A2 intron 2 polymorphisms and haplotypes with diverse baseline and stimulated blood hormone levels were ...
Márton Doleschall, Julianna Anna Szabó, Júlia Pázmándi, Ágnes Szilágyi, Klára Koncz, Henriette Farkas, Miklós Tóth, Péter Igaz, Edit Gláz, Zoltán Prohászka, Márta Korbonits, Károly Rácz, George Füst, Attila Patócs   +13 more
doaj   +1 more source

Allele-specific and multiplex PCR based tools for cost-effective and comprehensive genetic testing in Congenital Adrenal Hyperplasia

MethodsX, 2022
Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder due to enzyme defects in adrenal steroidogenesis. Several genes code for these enzymes, out of which mutations in the CYP21A2 gene resulting in 21 hydroxylase deficiency, contribute ...
Lavanya Ravichandran, Deny Varghese, Parthiban R, Asha H. S, Sophy Korula, Nihal Thomas, Aaron Chapla   +6 more
doaj   +1 more source

Steroid 21-hydroxylase gene variants and late-life depression

BMC Research Notes, 2021
Objectives A feature of late-life depression is alterations of the stress hormone system. The CYP21A2 gene encodes for the steroid 21-hydroxylase enzyme which is required for the biosynthesis of mineralocorticoids and glucocorticoids, two main components
Marie-Laure Ancelin, Joanna Norton, Karen Ritchie, Isabelle Chaudieu, Joanne Ryan   +4 more
doaj   +1 more source

Molecular basis and genetic testing strategies for diagnosing 21-hydroxylase deficiency, including CAH-X syndrome [PDF]

Annals of Pediatric Endocrinology & Metabolism, 2023
Congenital adrenal hyperplasia (CAH) is a group of autosomally recessive disorders that result from impaired synthesis of glucocorticoid and mineralocorticoid.
Ja Hye Kim, Gu-Hwan Kim, Han-Wook Yoo, Jin-Ho Choi   +3 more
doaj   +1 more source

C4B null alleles are not associated with genetic polymorphisms in the adjacent gene CYP21A2 in autism

BMC Medical Genetics, 2008
Background Research indicates that the etiology of autism has a strong genetic component, yet so far the search for genes that contribute to the disorder, including several whole genome scans, has led to few consistent findings.
Odell J Dennis, Odell Daniel W, Sweeten Thayne L, Torres Anthony R   +3 more
doaj   +1 more source

Characteristics of In2G Variant in Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency

Frontiers in Endocrinology, 2022
Substantial research has been performed during the last decades on the clinical and genetic variability of congenital adrenal hyperplasia (CAH) and its most common form, 21-hydroxylase deficiency (21OHD).
Mirjana Kocova, Paola Concolino, Henrik Falhammar, Henrik Falhammar   +3 more
doaj   +1 more source

SAT380 Clinical, Metabolic And Hormonal Profile In Women Carrying Cyp21a2 Mutations

Journal of the Endocrine Society, 2023
Disclosure: S. Livadas: None. D.G. Goulis: None. E. Belardinelli: None. E. Armeni: None. B. Solmi: None. S. veneti: None. I. Lambrinoudaki: None. C. Cecchetti: None. D.P. Macut: None. A. Gambineri: None.
S. Livadas, D. Goulis, E. Belardinelli, E. Armeni, B. Solmi:, S. Veneti, I. Lambrinoudaki, C. Cecchetti, D. Macut, Alessandra Gambineri   +9 more
semanticscholar   +1 more source

SAT284 Is Stress Vulnerability In CAH Related To Epinephrine Deficiency And CYP21A2 Genotype?

Journal of the Endocrine Society, 2023
Disclosure: A. Nordenstrom: None. K. Ekbom: None. R. Said: None. A. Strandqvist: None. H. Lönnberg: None. M. Lindberg: None. N. Bertman: None. A.L. Hirschberg: None. H. Falhammar: None. A. Rickenlund: None. Introduction: Primary adrenal insufficiency due
A. Nordenstrom, Kerstin Ekbom, Ragad Said, Anna Strandqvist, Hanna Lönnberg, Maria Lindberg, Noah Bertman, Angelica Lindén Hirschberg, Henrik Falhammar, Anette Rickenlund   +9 more
semanticscholar   +1 more source

A novel SMOC1 pathogenic homozygous variant in a fetus with mesomelia of the lower limbs, micrognathia and hypertelorism and an incidental finding of CYP21A2‐related congenital adrenal hyperplasia

Prenatal Diagnosis, 2023
Trio exome sequencing was performed on a fetus with bilateral mesomelia of the lower limbs with significant angulation of the tibial bones, micrognathia and hypertelorism detected on ultrasound scan at 19 + 0 weeks gestation. The couple is consanguineous.
Clare Willison, Vijaya Ramachandran, N. Chandler, Sara Hillman, Tazeen Ashraf   +4 more
semanticscholar   +1 more source