Results 71 to 80 of about 6,020 (257)

Implications of CYP21A2 gene duplications in carrier screening and prenatal diagnosis of congenital adrenal hyperplasia due to 21 Hydroxylase deficiency

Indian Pediatrics Case Reports, 2022
Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder that presents as salt wasting or simple virilization (SV). It is due to biallelic mutations in the CYP21A2 gene that encodes the 21-hydroxylase enzyme.
Sudhisha Dubey, Renu Saxena, Ratna Dua Puri, Ishwar Chander Verma   +3 more
doaj   +1 more source

An oncocytic adrenal tumour in a patient with Birt‐Hogg‐Dubé syndrome [PDF]

, 2013
Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/106917/1/cen12292 ...
Caoili, Elaine M., Else, Tobias, Everett, Jessica N., Giordano, Thomas J., Gruber, Stephen B., Hammer, Gary D., Long, Jessica M., Raymond, Victoria M., Stoffel, Elena M.   +8 more
core   +1 more source

Structure–phenotype correlations of human CYP21A2 mutations in congenital adrenal hyperplasia [PDF]

Proceedings of the National Academy of Sciences, 2013
Mutations in the cytochrome p450 (CYP)21A2 gene, which encodes the enzyme steroid 21-hydroxylase, cause the majority of cases in congenital adrenal hyperplasia, an autosomal recessive disorder. To date, more than 100 CYP21A2 mutations have been reported.
Haider, Shozeb, Islam, Barira, D'Atri, Valentina, Sgobba, Miriam, Poojari, Chetan, Sun, Li, Yuen, Tony, Zaidi, Mone, New, Maria   +8 more
openaire   +4 more sources

Genotype-Phenotype Correlation in 153 Adult Patients With Congenital Adrenal Hyperplasia due to 21-Hydroxylase Deficiency: Analysis of the United Kingdom Congenital Adrenal Hyperplasia Adult Study Executive (CaHASE) Cohort [PDF]

, 2013
CONTEXT: In congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, a strong genotype-phenotype correlation exists in childhood. However, similar data in adults are lacking.
Arlt, Arlt, Brian R. Walker, Casteras, Charmandari, Day, Debbie S. Willis, Deneux, Emma J. Doherty, Finkielstain, Finkielstain, Fiona MacDonald, Frisen, Gerry S. Conway, Grischuk, Hagenfeldt, Hahner, Ian T. Rose, Jaaskelainen, James Hodson, Koppens, Krone, Krone, Krone, Krone, Krone, Kuhnle, Marino, Meyer-Bahlburg, Miller, Nermoen, Nils Krone, Nimkarn, Nordenskjold, Ogilvie, Paul V. Carroll, Reisch, Reisch, Richard J. Ross, Robins, Roland H. Stimson, Sarah H. Wild, Silvia Parajes, Speiser, Stefanie Hahner, Thang S. Han, Wedell, White, Wiebke Arlt   +48 more
core   +1 more source

Long-read amplicon sequencing of the CYP21A2 in 48 Thai patients with steroid 21-hydroxylase deficiency.

Journal of Clinical Endocrinology and Metabolism, 2022
CONTEXT Congenital adrenal hyperplasia (CAH) is most commonly caused by 21-hydroxylase deficiency (21-OHD), an autosomal recessive disorder resulted from biallelic pathogenic variants (PVs) in CYP21A2.
Nithiphut Tantirukdham, Taninee Sahakitrungruang, Ratikorn Chaisiwamongkol, M. Pongpanich, C. Srichomthong, Adjima Assawapitaksakul, Aayalida Buasong, S. Tongkobpetch, Patra Yeetong, V. Shotelersuk   +9 more
semanticscholar   +1 more source

A Rare Case of Co-occurrence of Multiple Endocrine Neoplasia Syndrome and Congenital Adrenal Hyperplasia

Ожирение и метаболизм
Multiple endocrine neoplasia type 1 (MEN1) and congenital adrenal hyperplasia (CAH) are rare monogenic hereditary endocrinopathies with a prevalence of 1–9 cases per 100,000 and 9–15 cases per 100,000, respectively.
A. S. Bondarenko, E. O. Mamedova, Zh. E. Belaya, G. A. Melnichenko   +3 more
doaj   +1 more source

Long-read sequencing solves complex structure of CYP21A2 in a large 21-hydroxylase deficiency cohort.

Journal of Clinical Endocrinology and Metabolism
CONTEXT Genetic testing for 21-hydroxylase deficiency (21-OHD) is always challenging. Current approaches, short-read sequencing and multiplex ligation-dependent probe amplification (MLPA), are insufficient for the detection of chimeric genes or ...
Rui-fang Wang, Xiaomei Luo, Yu Sun, L. Liang, Aiping Mao, Deyun Lu, Kaichuang Zhang, Yi Yang, Yuning Sun, Manqing Sun, L. Han, Huiwen Zhang, Xuefan Gu, W. Qiu, Yongguo Yu   +14 more
semanticscholar   +1 more source

Corrigendum: A Rare Case of Co-occurrence of Multiple Endocrine Neoplasia Syndrome and Congenital Adrenal Hyperplasia. (Obesity and metabolism. 2024;21(1):79-84. doi: https://doi.org/10.14341/omet13015)

Ожирение и метаболизм
A corrigendum on "A Rare Case of Co-occurrence of Multiple Endocrine Neoplasia Syndrome and Congenital Adrenal ­Hyperplasia" by Axenia S. Bondarenko, Elizaveta O. Mamedova, Zhanna E. Belaya, Galina A. Melnichenko (2024). Obesity and metabolism. 2024;21(1)
A. S. Bondarenko, E. O. Mamedova, Zh. E. Belaya, G. A. Melnichenko   +3 more
doaj   +1 more source

A de novo mutation in CYP21A2 gene in a case of in vitro fertilization

Molecular Genetics and Metabolism Reports, 2015
Congenital adrenal hyperplasia, one of the most frequent autosome recessive disorders, is caused by defects in steroidogenic enzymes involved in the cortisol biosynthesis. Approximately 95% of the cases are caused by abnormal function of the 21-hydroxylase enzyme. This deficiency leads to androgen excess, consequently, to virilization and rapid somatic
Silva-Grecco, Roseane Lopes da, de Paula Michelatto, Débora, Lincoln-de-Carvalho, Carolina Rodrigues, Henrique, Pamela Pontes, da Cunha, Heloísa Marcelina, Palandi-de-Mello, Maricilda   +5 more
openaire   +4 more sources

A Humanized and Viable Animal Model for Congenital Adrenal Hyperplasia–CYP21A2-R484Q Mutant Mouse

International Journal of Molecular Sciences
Congenital Adrenal Hyperplasia (CAH) is an autosomal recessive disorder impairing cortisol synthesis due to reduced enzymatic activity. This leads to persistent adrenocortical overstimulation and the accumulation of precursors before the blocked ...
Shamini Ramkumar Thirumalasetty, Tina Schubert, Ronald Naumann, Ilka Reichardt, M. Rohm, D. Landgraf, Florian Gembardt, Mirko Peitzsch, M. Hartmann, M. Sarov, S. A. Wudy, N. Reisch, Angela Huebner, K. Koehler   +13 more
semanticscholar   +1 more source