Results 11 to 20 of about 75,592 (343)

The Complexities in Genotyping of Congenital Adrenal Hyperplasia: 21-Hydroxylase Deficiency

Frontiers in Endocrinology, 2019
The deficiency of 21-hydroxylase due to CYP21A2 pathogenic variants is a rather frequent disease with serious consequences, going from a real mortality risk to infertility and to milder symptoms, nevertheless important for affecting the patients' self ...
Duarte Pignatelli, Duarte Pignatelli, Duarte Pignatelli, Berta L. Carvalho, Berta L. Carvalho, Aida Palmeiro, Alberto Barros, Alberto Barros, Susana G. Guerreiro, Susana G. Guerreiro, Djuro Macut   +10 more
doaj   +2 more sources

Prednisolone impairs trabecular bone score changes in adolescents with 21-hydroxylase deficiency [PDF]

Clinical and Experimental Pediatrics
Background Individuals with 21-hydroxylase deficiency (21OHD) require lifelong glucocorticoid (GC) therapy, which increases their risk of fragility fractures.
Pattara Wiromrat, Yutapong Raruenrom, Phanpaphorn Namphaisan, Nantaporn Wongsurawat, Ouyporn Panamonta, Chatlert Pongchaiyakul   +5 more
doaj   +2 more sources

Hydrocortisone dosage at 3 years of age is positively correlated with body mass index at 10 years in individuals with 21-hydroxylase deficiency. [PDF]

Clin Pediatr Endocrinol
Miyahara Y, Hata A, Wada T, Maeyama T, Nishigaki S, Ida S, Etani Y, Kawai M.   +7 more
europepmc   +3 more sources

Clinical and molecular characteristics of simple virilizing congenital adrenal hyperplasia due to 21-hydroxylase deficiency: insight from a tertiary pediatric center in Vietnam [PDF]

Annals of Pediatric Endocrinology & Metabolism
Purpose Simple virilizing congenital adrenal hyperplasia (SV-CAH) due to 21-hydroxylase deficiency (21-OHD) is an autosomal recessive disease caused by pathogenic variants of the CYP21A2 gene.
Khanh Ngoc Nguyen, Giang Thi Kim Dang, Ngoc Thi Bich Can, Dien Minh Tran, Thao Phuong Bui, Mai Nguyen Thi Phuong, Huong Thu Pham, Ngoc Diem Ngo, Dung Chi Vu   +8 more
doaj   +2 more sources

Mental Health Issues Associated With Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency. [PDF]

J Clin Endocrinol Metab
Sandberg DE, Gardner M, Lapham ZK.
europepmc   +2 more sources

Clinical guidelines for the diagnosis and treatment of 21-hydroxylase deficiency (2021 revision)

Clinical Pediatric Endocrinology, 2022
. Congenital adrenal hyperplasia is a category of disorders characterized by impaired adrenocortical steroidogenesis. The most frequent disorder of congenital adrenal hyperplasia is 21-hydroxylase deficiency, which is caused by pathogenic variants of ...
T. Ishii, K. Kashimada, N. Amano, K. Takasawa, Akari Nakamura-Utsunomiya, S. Yatsuga, T. Mukai, S. Ida, M. Isobe, M. Fukushi, Hiroyuki Satoh, K. Yoshino, M. Otsuki, T. Katabami, T. Tajima   +14 more
semanticscholar   +1 more source

Prenatal dexamethasone treatment for classic 21-hydroxylase deficiency in Europe

European Journal of Endocrinology, 2022
Objective To assess the current medical practice in Europe regarding prenatal dexamethasone (Pdex) treatment of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency.
H. Nowotny, U. Neumann, V. Tardy-Guidollet, S. Ahmed, F. Baronio, T. Battelino, J. Bertherat, O. Blankenstein, M. Bonomi, C. Bouvattier, Aude Brac de la Perrière, S. Brucker, M. Cappa, P. Chanson, H. Claahsen-van der Grinten, A. Colao, M. Cools, J. Davies, H. Dörr, W. Fenske, E. Ghigo, R. Giordano, C. Gravholt, A. Huebner, E. Husebye, R. Igbokwe, A. Juul, F. Kiefer, J. Léger, R. Menassa, G. Meyer, V. Neocleous, L. Phylactou, J. Rohayem, G. Russo, C. Scaroni, P. Touraine, N. Unger, J. Vojtková, D. Yeste, S. Lajic, N. Reisch   +41 more
semanticscholar   +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

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).
M. Kocova, P. Concolino, H. Falhammar
semanticscholar   +1 more source

Case Report: Infant With Congenital Adrenal Hyperplasia and 47,XXY

Frontiers in Genetics, 2022
Congenital adrenal hyperplasia is a group of autosomal recessive disorders in which enzymes in the cortisol biosynthesis pathways are disrupted by gene mutations. The most common form of congenital adrenal hyperplasia, caused by 21-hydroxylase deficiency,
Sophia Q. Song, Andrea Gropman, Andrea Gropman, Robert W. Benjamin, Francie Mitchell, Michaela R. Brooks, Mary P. Hamzik, Kira Sampson, Ritika Kommareddi, Teresa Sadeghin, Carole A. Samango-Sprouse, Carole A. Samango-Sprouse, Carole A. Samango-Sprouse   +12 more
doaj   +1 more source