Results 61 to 70 of about 26,513 (179)

Cushing's disease in a patient with steroid 21-hydroxylase deficiency

Endocrine Journal, 2011
Cushing's disease rarely appears as a consequence of hereditary disease. However, familial diseases with diminished glucocorticoid feedback are associated with secondary hypercorticotropinism and have been shown to give rise to pituitary adenomas. We here describe the rare case of a 30-year old female patient with congenital adrenal hyperplasia who ...
Haase, Matthias, Schott, Matthias, Kaminsky, Elke, Lüdecke, Dieter K., Saeger, Wolfgang, Fritzen, Reimar, Schinner, Sven, Scherbaum, Werner A., Willenberg, Holger S.   +8 more
openaire   +3 more sources

Serum Steroid Profiling by Liquid Chromatography–Tandem Mass Spectrometry for the Rapid Confirmation and Early Treatment of Congenital Adrenal Hyperplasia: A Neonatal Case Report

Metabolites, 2019
Congenital adrenal hyperplasia (CAH) describes a group of autosomal recessive disorders of steroid biosynthesis, in 95% of cases due to 21-hydroxylase deficiency.
Ilaria Cicalini, Stefano Tumini, Paola Irma Guidone, Damiana Pieragostino, Mirco Zucchelli, Sara Franchi, Gabriele Lisi, Pierluigi Lelli Chiesa, Liborio Stuppia, Vincenzo De Laurenzi, Claudia Rossi   +10 more
doaj   +1 more source

Table_3_Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach.docx

, 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.
Begoña Ezquieta (12312440), María Arriba (6707465)   +1 more
core   +1 more source

Nanoparticles with curcumin and piperine modulate steroid biosynthesis in prostate cancer

Scientific Reports
Endogenous androgens are pivotal in the development and progression of prostate cancer (PC). We investigated nanoparticle formulations of curcumin and piperine in modulating steroidogenesis within PC cells.
Jibira Yakubu, Evangelos Natsaridis, Therina du Toit, Isabel Sousa Barata, Oya Tagit, Amit V. Pandey   +5 more
doaj   +1 more source

3D model of amphioxus steroid receptor complexed with estradiol

, 2009
The origins of signaling by vertebrate steroids are not fully understood. An important advance was the report that an estrogen-binding steroid receptor [SR] is present in amphioxus, a basal chordate with a similar body plan as vertebrates.
Michael E. Baker, David J. Chang
core  

Genetic disruption of 21-hydroxylase in zebrafish causes interrenal hyperplasia [PDF]

, 2017
Congenital adrenal hyperplasia is a group of common inherited disorders leading to glucocorticoid deficiency. Most cases are caused by 21-hydroxylase deficiency (21OHD).
Ferenc Müller, Storbeck, K.-H., Taylor, Angela; id_orcid, Taylor, Angela, Zaucker, Andreas, Andreas Zaucker, Nils Krone, James A Oakes, Müller, F., Abigail Harris, Griffin, A., Karl-Heinz Storbeck, Tülay Güran, Güran, Tülay, Greenfield, Andy, Quanson, Jonathan L., Taylor, A., Quanson, J.L., Zaucker, A., Harris, Abigail, Krone, Nils, Jonathan L Quanson, Greenfield, A., Güran, T., Vincent T Cunliffe, Krone, N., Eachus, Helen, Cunliffe, Vincent T., Oakes, J.A., Aliesha Griffin, Andy Greenfield, Griffin, Aliesha, Weger, Meltem, Müller, Ferenc, Weger, M., Storbeck, Karl-Heinz, Angela Taylor, Meltem Weger, Harris, A., Cunliffe, V.T., Oakes, James A., Helen Eachus, Eachus, H.   +42 more
core   +1 more source

A novel 9-bp insertion detected in steroid 21-hydroxylase gene (CYP21A2): prediction of its structural and functional implications by computational methods

Journal of Biomedical Science, 2009
Background Steroid 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia (CAH). Detection of underlying mutations in CYP21A2 gene encoding steroid 21-hydroxylase enzyme is helpful both for confirmation of diagnosis and ...
Varma R Raveendra, Saravanan Chinnaraj, Anwaruddin Mohammad, Idicula-Thomas Susan, Dubey Sudhisha, Maitra Anurupa   +5 more
doaj   +1 more source

A Case of Cogenital Adrenal Hyperplasia with Concomitant Abnormalities of Steroid 21- and 11β-hydroxylase Activities [PDF]

, 1990
Abnormalities in the steroid 21-hydroxylase and 11β-hydroxylase activities were suspeted in a 25-year-old female with congenital adrenal hyperplasia (CAH).
Oda, Kiyoshi, Ishida, Sakurako, Yamane, Kiminori, Egusa, Genshi, Hara, Hitoshi, Yamakido, Michio, Mori, Hiroshi, Okamura, Midori, Kado, Seijiro   +8 more
core  

Table_2_Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach.docx

, 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.
Begoña Ezquieta (12312440), María Arriba (6707465)   +1 more
core   +1 more source

Table_1_Molecular Diagnosis of Steroid 21-Hydroxylase Deficiency: A Practical Approach.docx

, 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.
Begoña Ezquieta (12312440), María Arriba (6707465)   +1 more
core   +1 more source