Results 71 to 80 of about 57,073 (302)

A case of combined 21‐hydroxylase deficiency and CHARGE syndrome featuring micropenis and cryptorchidism

Molecular Genetics & Genomic Medicine, 2019
Background 21‐hydroxylase deficiency (21‐OHD) is caused due to CYP21A2 gene variant. In males, the excess androgens produce varying degrees of penile enlargement and small testes. CHARGE syndrome (CS) has a broad spectrum of symptoms.
Satoko Umino, Miyuki Kitamura, Yuko Katoh‐Fukui, Maki Fukami, Takeshi Usui, Shuichi Yatsuga, Yasutoshi Koga   +6 more
doaj   +1 more source

21-hydroxylase Deficiency Transiently Mimicking Combined 21- And 11β-hydroxylase Deficiency

, 2015
21-Hydroxylase deficiency (21OHD) is the commonest form of congenital adrenal hyperplasia, while 11βOHD represents 5% of cases. Although both result from mutations in distinct genes, cases of 'apparent' combined 21OHD and 11βOHD (AC21,11OHD) have been ...
Kater C.E., De Mello M.P., Lemos-Marini S.H.V., Tonetto-Fernandes V., Ribeiro-Neto L.M.   +4 more
core  

21-hydroxylase deficiency transiently mimicking combined 21- and 11 beta-hydroxylase deficiency

, 2008
21-Hydroxylase deficiency (21OHD) is the commonest form of congenital adrenal hyperplasia, while 11 beta OHD represents 5% of cases. Although both result from mutations in distinct genes, cases of 'apparent' combined 210HD and 11 beta OHD (AC21,11OHD ...
Ribeiro-Neto, Luciane Maria [UNIFESP], Mello, Maricilda Palandi de, Tonetto-Fernandes, Vânia [UNIFESP], Kater, Claudio Elias [UNIFESP], Lemos-Marini, Sofia Helena Valente de   +4 more
core   +1 more source

Szteroid-21-hidroxiláz-deficientia, a congenitalis adrenalis hyperplasia leggyakoribb oka = Steroid 21-hydroxylase deficiency, the most frequent cause of congenital adrenal hyperplasia [PDF]

, 2018
Absztrakt: A congenitalis adrenalis hyperplasiát 7 monogénes genetikai betegség összességének tekintjük, melyekből az egyik a szteroid-21-hidroxiláz-deficientia.
Doleschall, Márton, Halász, Zita, Patócs, Attila Balázs, Márton Doleschall, Fekete, György, Katalin Mészáros, Tóth, Miklós, Szücs, Nikolette, Nikolette Szücs, Attila Patócs, Zita Halász, Mészáros, Katalin, Krisztina Németh, Igaz, Péter, Sólyom, János, Patócs, Attila, Miklós Tóth, Dóra Török, Péter Igaz, János Sólyom, Andrea Luczay, Kiss, Róbert, György Fekete, Németh, Krisztina, Judit Tőke, Róbert Kiss, Tőke, Judit, Török, Dóra, Luczay, Andrea   +28 more
core   +1 more source

Development of a Human 3D Immune‐Competent Neurovascular Model Enabling Time‐Resolved Monitoring of Neuroinflammatory Dynamics and Neuroimmune Interactions

Advanced Science, EarlyView.
Neuroinflammation alters blood–brain barrier integrity and contributes to neurological disorders, yet existing models lack human immune complexity. This study presents a 3D, immune‐responsive platform that reconstructs key neurovascular components and enables real‐time monitoring.
Pavlo Gordiichuk, Jing Bai, Olurotimi A. Bolonduro, Andrew M. Silverman, Robert Madison Green, Jason H. Lasser, Paul W. Fleming, Lishomwa C. Ndhlovu, James F. Saunders, Dmitry Shvartsman   +9 more
wiley   +1 more source

Extraadrenal 21-Hydroxylation by CYP2C19 and CYP3A4: Effect on 21-Hydroxylase Deficiency

, 2009
Context: 21-Hydroxylase deficiency (21OHD) is caused by CYP21A2 gene mutations disrupting the adrenal 21-hydroxylase, P450c21. CYP21A2 mutations generally correlate well with the 21OHD phenotype, but some children with severe CYP21A2 mutations have ...
AGRAWAL, Vishal, MENDONCA, Berenice B., HUANG, Ningwu, GOMES, Larissa G., BACHEGA, Tania A. S. S., MILLER, Walter L.   +5 more
core   +1 more source

Ferritinophagy Rewires Carnitine‐Dependent Lipid Metabolism to Inhibit PRRSV and IAV Replication

Advanced Science, EarlyView.
NCOA4‐mediated ferritinophagy reprograms carnitine metabolism by disrupting Fe‐S cluster biogenesis, thereby establishing an iron‐lipid axis that suppresses various viruses, including PRRSV and IAV. However, viruses counteract this mechanism by degrading NCOA4.
Kaifeng Guan, Chenyang Yuan, Zekun Meng, Yanan Wang, Xueying Zhai, Chunjie Huang, Xiang Zhou, Gaiping Zhang   +7 more
wiley   +1 more source

REPORT OF 285 PATIENTS WITH CONGENITAL ADRENAL HYPERPLASIA AND EVALUATION OF APPROXIMATE REVALENCE OF THE DISEASE IN IRAN [PDF]

Acta Medica Iranica, 1999
In this study, 285 cases of congenital adrenal hyperplasia who were followed in the Tehran University Hospitals and Institute of Endocrinology and Metabolism arc reported. Among these cases, 165 (57.9%) were female and 120 (42.1%), male.
H. Moayeri, A.Rabbani
doaj   +2 more sources

Glucocorticoid Dose and Type are Associated with Depression Scores in Youth with Classical Congenital Adrenal Hyperplasia

JCRPE
Objective: Adults with classical congenital adrenal hyperplasia (CAH) exhibit a higher lifetime prevalence of depression, but little is known about onset or etiology of mood disorders in this population.
Mark Chih-Wei Liang, Nicole Fraga, Nare Minaeian, Megan M. Herting, Mitchell E. Geffner, Tania A. S. S. Bachega, Mimi S. Kim   +6 more
doaj   +1 more source

Sexual Orientation in Individuals With Congenital Adrenal Hyperplasia: A Systematic Review

Frontiers in Behavioral Neuroscience, 2020
Congenital adrenal hyperplasia (CAH) is a genetic condition of the steroidogenic enzymes in the adrenal cortex normally leading to variable degrees of cortisol and aldosterone deficiency as well as androgen excess.
Elisabeth Daae, Kristin Billaud Feragen, Anne Waehre, Ingrid Nermoen, Ingrid Nermoen, Henrik Falhammar   +5 more
doaj   +1 more source