Results 41 to 50 of about 19,718 (218)

Nonsense mutation causing steroid 21-hydroxylase deficiency. [PDF]

Journal of Clinical Investigation, 1988
We determined the sequence of a mutant CYP21B gene isolated from a patient with the severe, "salt-wasting" form of congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency. Codon 318 in this gene is changed from CAG, encoding glutamine, to TAG, a nonsense codon.
H, Globerman, M, Amor, K L, Parker, M I, New, P C, White   +4 more
openaire   +2 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  

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

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

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

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  

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

Papulocistic lesions of the face: the tip of the iceberg

Senses and Sciences, 2015
Acne is a manifestation of hormonal overstimulation of the pilosebaceous units of genetically susceptible individuals and may manifest in the form of comedonic, papulopustular or nodular lesions. It can present as an isolated disease or in the context of
Nevena Skroza, Sara Zuber, Ersilia Tolino, Ilaria Proietti, Nicoletta Bernardini, Riccardo Pampena, Veronica Balduzzi, Giorgio La Viola, Concetta Potenza   +8 more
doaj   +1 more source

Colorectal cancer‐derived FGF19 is a metabolically active serum biomarker that exerts enteroendocrine effects on mouse liver

Molecular Oncology, EarlyView.
Meta‐transcriptome analysis identified FGF19 as a peptide enteroendocrine hormone associated with colorectal cancer prognosis. In vivo xenograft models showed release of FGF19 into the blood at levels that correlated with tumor volumes. Tumoral‐FGF19 altered murine liver metabolism through FGFR4, thereby reducing bile acid synthesis and increasing ...
Jordan M. Beardsley, Michael W. Rohr, Joseph A. Goode, Sai Preethi Nakkina, Jignesh G. Parikh, Deborah A. Altomare   +5 more
wiley   +1 more source

Ascorbic Acid Modulates Collagen Properties in Glucocorticoid‐Induced Osteoporotic Bone: Insights into Chemical, Mechanical, and Biological Regulation

Advanced Healthcare Materials, EarlyView.
Osteoporosis from long‐term glucocorticoid (GIOP) use elevates susceptibility to fracture. This study shows GCs impair ascorbic acid (AA) metabolism in osteoblasts, collagen synthesis and extracellular matrix integrity. AA enhanced collagen biochemical and mechanical properties and restored osteoblast and endothelial function. These findings underscore
Micaila DE Curtis, Yoontae Kim, Rahul Patil, Xinran Zhang, Meth Jayatilake, Orelle Bulgin, Peter Lialios, Sana Surrency, Soraya Tarrah, Argyris K. Lazaris, Alison Grafton, James Williams IV, Seyedeh Boshra Nouraie, Maria Bizaki, Penelope Xeron, Edward Van Keuren, Jonathan E. Seppala, Evagelia C. Laiakis, Joanna B. Kitlinska, Stella Alimperti   +19 more
wiley   +1 more source