Results 41 to 50 of about 76,273 (258)

Profiles of 21-Carbon Steroids in 21-hydroxylase Deficiency [PDF]

The Journal of Clinical Endocrinology & Metabolism, 2015
Context: Marked elevations of 17-hydroxyprogesterone (17OHP) are characteristic of classic 21-hydroxylase deficiency (21OHD). Testing of 17OHP provides the basis for 21OHD diagnosis, although it suffers from several pitfalls.
Adina F, Turcu, Juilee, Rege, Robert, Chomic, Jiayan, Liu, Hiromi K, Nishimoto, Tobias, Else, Andreas G, Moraitis, Ganesh S, Palapattu, William E, Rainey, Richard J, Auchus   +9 more
openaire   +2 more sources

Expression of Key Androgen-Activating Enzymes in Ovarian Steroid Cell Tumor, Not Otherwise Specified

Journal of Investigative Medicine High Impact Case Reports, 2020
To characterize the expression of steroidogenic enzymes implicated in the development of ovarian steroid cell tumors, not otherwise specified (SCT-NOS). We present 4 ovarian SCT-NOS evaluated by immunohistochemical staining of steroidogenic enzymes as an
Evana Valenzuela Scheker MD, Amita Kathuria MD, Ashwini Esnakula MD, Hironobu Sasano MD, Yuto Yamazaki MD, Sergei Tevosian PhD, Richard J. Auchus MD, PhD, Hans K. Ghayee DO, Gauri Dhir MD   +8 more
doaj   +1 more source

Cholestenoic acid, an endogenous cholesterol metabolite, is a potent γ-secretase modulator. [PDF]

, 2015
BackgroundAmyloid-β (Aβ) 42 has been implicated as the initiating molecule in the pathogenesis of Alzheimer's disease (AD); thus, therapeutic strategies that target Aβ42 are of great interest.
Akula, Rajender, Ba, Saritha, Ceballos-Diaz, Carolina, Felsenstein, Kevin M, Golde, Todd E, Hochhaus, Günther, Jung, Joo In, Koo, Edward H, Ladd, Thomas B, Park, Hyo-Jin, Price, Ashleigh R, Ran, Yong, Shapiro, Gideon, Smithson, Lisa A, Tang, Yufei   +14 more
core   +3 more sources

Direct molecular diagnosis of CYP21A2 point mutations in Macedonian and Serbian patients with 21-hydroxylase deficiency [PDF]

Journal of Medical Biochemistry, 2015
Background: Steroid 21-hydroxylase deficiency is present in 90-95% of all cases with congenital adrenal hyperplasia (CAH), an autosomal recessive disorder.
Anastasovska Violeta, Milenković Tatjana, Kocova Mirjana   +2 more
doaj  

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

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   +1 more source

Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 Oxidoreductase deficiency [PDF]

, 2010
Context: P450 oxidoreductase (POR) is a crucial electron donor to all microsomal P450 cytochrome (CYP) enzymes including 17α-hydroxylase (CYP17A1), 21-hydroxylase (CYP21A2) and P450 aromatase.
Adachi, Antley, Arlt, Auchus, Belgorosky, Birgit Köhler, Bulun, Byskov, Cedric H. L. Shackleton, Dharia, Dhir, Dominique Maiter, Ewa M. Malunowicz, Falhammar, Felicity Collins, Flück, Fujieda, Fukami, Fukami, Fukami, Grondahl, Grøndahl, Hague, Huang, Huang, Idkowiak, Jan Idkowiak, Jin, Krone, Latronico, Luitgard Margarete Graul-Neumann, Mallin, Mann, Maria Szarras-Czapnik, Martin Silink, Mehul Dattani, Michiel N. Kerstens, Mullis, New, Nguyen, Nicole Reisch, Nils Krone, Otto, Ribes, Rosa, Roux, Rozman, Sahakitrungruang, Schmidt, Shackleton, Shima, Stephen O'Riordan, Suzuki, Tanae, ten Kate-Booij, Tomalik-Scharte, Wang, Wang, Wiebke Arlt, Wilson   +59 more
core   +2 more sources

The value of serum levels of dehydroepiandrosterone sulfate as a screening test for late-onset congenital adrenal hyperplasia [PDF]

Einstein (São Paulo), 2006
Objective: To evaluate the use of serum level of dehydroepiandrosteronesulfate as a screening test for late-onset congenital adrenal hyperplasia.Methods: Fourteen hirsute women with elevated serum levels ofdehydroepiandrosterone sulfate, 17 hirsute women
Marcos Yorghi Khoury, Edmund Chada Baracat, Dolores Perovano Pardini, Rita de Cássia Castro, Odilon Victor Porto Denardin, Geraldo Rodrigues de Lima   +5 more
doaj  

Congenital adrenal hyperplasia with homozygous and heterozygous mutations: a rare family case report

BMC Endocrine Disorders, 2022
Background Congenital adrenal hyperplasia (CAH), characterized by defective adrenal steroidogenesis, is transmitted in an autosomal recessive manner. Mutations in the steroid 21-hydroxylase gene CYP21A2 causing steroid 21-hydroxylase deficiency account ...
Tiantian Cheng, Jing Liu, Wenwen Sun, Guangyao Song, Huijuan Ma   +4 more
doaj   +1 more source

Adrenal crises: perspectives and research directions [PDF]

, 2017
Adrenal crises (AC) are life-threatening complications of adrenal insufficiency (AI). These events have an estimated incidence of between 5 and 10 ACs/100 patient years (PY) and are responsible for some of the increased morbidity and excess mortality ...
Falhammar, H, Rushworth, R, Torpy, D
core   +2 more sources

Integration of Adjunctive Therapy for Congenital Adrenal Hyperplasia

Children
CAH represents a prototypical enzyme deficiency disorder, most commonly affecting steroid 21-hydroxylase, in which the critical adrenal pathway from cholesterol to cortisol is blocked [...]
Phyllis W. Speiser
doaj   +1 more source