Results 1 to 10 of about 75,592 (343)

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   +2 more sources

Genotype-phenotype correlation in patients with 21-hydroxylase deficiency [PDF]

Frontiers in Endocrinology, 2023
Introduction21-hydroxylase deficiency (21OHD) is the most common cause of congenital adrenal hyperplasia (CAH). However, patients with 21OHD manifest various phenotypes due to a wide-spectrum residual enzyme activity of different CYP21A2 mutations ...
Peng Tang, Jun Zhang, Song Peng, Yapeng Wang, Haoyang Li, Ze Wang, Yao Zhang, Yiqiang Huang, Jing Xu, Dianzheng Zhang, Qiuli Liu, Luofu Wang, Weihua Lan, Jun Jiang   +13 more
doaj   +2 more sources

21-Hydroxylase deficiency in Brazil [PDF]

Brazilian Journal of Medical and Biological Research, 2000
We determined the frequency of large rearrangements and point mutations in 130 Brazilian patients with 21-hydroxylase deficiency and correlated genotype with phenotype. The frequency of CYP21 deletions was lower (4.4%) than in most of the previous series
T.A.S.S. Bachega, A.E.C. Billerbeck, G. Madureira, J.A.M. Marcondes, C.A. Longui, M.V. Leite, I.J.P. Arnhold, B.B. Mendonça   +7 more
doaj   +5 more sources

Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach

Frontiers in Endocrinology, 2022
Adrenal insufficiency in paediatric patients is mostly due to congenital adrenal hyperplasia (CAH), a severe monogenic disease caused by steroid 21-hydroxylase deficiency (21-OHD, encoded by the CYP21A2 gene) in 95% of cases.
María Arriba, María Arriba, Begoña Ezquieta, Begoña Ezquieta   +3 more
doaj   +2 more sources

Rare Types of Congenital Adrenal Hyperplasias Other Than 21-hydroxylase Deficiency [PDF]

JCRPE
Although the most common cause of congenital adrenal hyperplasia (CAH) worldwide is 21-hydroxylase deficiency (21-OHD), which accounts for more than 95% of cases, other rare causes of CAH such as 11-beta-hydroxylase deficiency (11β-OHD), 3-beta ...
Mehmet İsakoca, Şenay Erdeve, Semra Çetinkaya   +2 more
doaj   +2 more sources

Interpretation of Steroid Biomarkers in 21-Hydroxylase Deficiency and Their Use in Disease Management.

J Clin Endocrinol Metab, 2023
The most common form of congenital adrenal hyperplasia is 21-hydroxylase deficiency (21OHD), which in the classic (severe) form occurs in roughly 1:16 000 newborns worldwide. Lifelong treatment consists of replacing cortisol and aldosterone deficiencies,
Sarafoglou K, Merke DP, Reisch N, Claahsen-van der Grinten H, Falhammar H, Auchus RJ.   +5 more
europepmc   +2 more sources

Congenital Adrenal Hyperplasia Due to Steroid 21-Hydroxylase Deficiency: An Endocrine Society* Clinical Practice Guideline [PDF]

Journal of Clinical Endocrinology and Metabolism, 2018
Objective To update the congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency clinical practice guideline published by the Endocrine Society in 2010.
Phyllis Speiser, Wiebke Arlt, Richard J. Auchus, Laurence S. Baskin, Gerard S. Conway, Deborah P. Merke, Heino F. L. Meyer‐Bahlburg, Walter L. Miller, M. Hassan Murad, Sharon E. Oberfield, Perrin C. White   +10 more
openalex   +2 more sources

Adrenal adenoma secreting 17-hydroxyprogesterone mimicking non-classical 21-hydroxylase deficiency [PDF]

Frontiers in Endocrinology
In adrenal steroidogenesis, 17-hydroxyprogesterone (17-OHP) is a substrate for 21-hydroxylase, one of the crucial enzymes of the cortisol and aldosterone biosynthesis pathway.
Beata Woźniak, Dorota Leszczyńska, Alicja Szatko, Alicja Szatko, Karolina Nowak, Radosław Samsel, Anna Siejka, Lucyna Papierska, Wojciech Zgliczyński, Henrik Falhammar, Henrik Falhammar, Piotr Glinicki, Piotr Glinicki   +12 more
doaj   +2 more sources

CYP21 gene mutations in Brazilian patients with 21-hydroxylase deficiency from the Amazon region [PDF]

Genetics and Molecular Biology, 2008
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (P450c21, CYP21) accounts for about 95% of all CAH cases. The incidence of CYP21 gene mutations has been extensively studied in the last years, but in Brazil it has been investigated ...
Tarcísio André Amorim de Carvalho, Izabel Cristina Neves de Souza, France Keiko Nascimento Yoshioka, Milena Coelho Fernandes Caldato, Nilza Nei Torres, Lena Stilianidi Garcia, João Farias Guerreiro   +6 more
doaj   +2 more sources

High‐Dose Hormone Replacement Therapy Improved Embryo Transfer Outcomes in a Woman With 21‐Hydroxylase Deficiency Who Had Persistently High Serum Progesterone Levels: A Case Report and Literature Review [PDF]

Clinical Case Reports
Women with 21‐hydroxylase deficiency have reduced fertility because of excessive production of adrenal androgen and progesterone, which can inhibit folliculogenesis, disturb the normal gonadotropin secretion pattern and development of the endometrium ...
Yuri Mizusawa, Hiroaki Shibahara, Masahide Shiotani   +2 more
doaj   +2 more sources