Results 1 to 10 of about 75,754 (157)

Novel deletion alleles carrying CYP21A1P/A2 chimeric genes in Brazilian patients with 21-hydroxylase deficiency [PDF]

BMC Medical Genetics, 2010
Background Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is caused by deletions, large gene conversions or mutations in CYP21A2 gene. The human gene is located at 6p21.3 within a locus containing the genes for putative serine/threonine ...
Guerra-Júnior Gil, Baptista Maria TM, de Lemos-Marini Sofia HV, Petroli Reginaldo J, Lau Ivy F, Paulino Luciana C, de Araújo Marcela, Bernardi Renan D, Soardi Fernanda C, Coeli Fernanda B, de-Mello Maricilda P   +10 more
doaj   +5 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

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

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

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

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

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   +12 more sources

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

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