Comprehensive characterization of 21-hydroxylase deficiency in a Chinese pediatric cohort: phenotype, steroid profiles and genetics. [PDF]
Chong H +7 more
europepmc +1 more source
Obesity in Classic Congenital Adrenal Hyperplasia: Mechanisms, Complications and Management
ABSTRACT Classic congenital adrenal hyperplasia (CCAH) is an autosomal recessive genetic disorder primarily caused by 21‐hydroxylase deficiency. Although the survival rate of patients has significantly improved with glucocorticoid replacement therapy, long‐term use of supraphysiological doses and multiple factors inherent to the disease itself have led
Jialin Mu +5 more
wiley +1 more source
Muscle pain in a woman with congenital adrenal hyperplasia due to 21-hydroxylase deficiency resolved with testosterone therapy. A case report with 10 years of follow-up. [PDF]
Hubska J +6 more
europepmc +1 more source
Lactate Accelerates Early Angiogenesis and Bone Regeneration Through Macrophage M1 Polarisation
During the early stage of bone defect healing, lactate accumulates and contributes to increasing NOD1 expression by stabilising HIF1α that in turn triggers a calcium influx, which ultimately polarises macrophages towards the M1 phenotype and accelerates vascularisation of endothelial cells.
Lulu Liu +10 more
wiley +1 more source
Adrenal Venous Sampling Aids in Distinguishing 17-Hydroxyprogesterone Hypersecreting Adrenal Cortical Adenomas from Non-Classical 21-Hydroxylase Deficiency. [PDF]
Qiu R, Yang T, Shang C, Zhu W, Zheng F.
europepmc +1 more source
Neurological disorders are hard to treat. Stem cell‐derived neural organoids enable research, and their transplantation aids CNS therapy, with this article reviewing relevant advances, challenges and prospects. ABSTRACT Neurological disorders are often devastating and notoriously difficult to repair, creating an urgent need for novel research models ...
Yutong Wang +8 more
wiley +1 more source
In Huh7 cells, HIF‐1α is essential as it maintains the expression of proteins involved in glycolysis and steroid/cholesterol biosynthesis both under normoxia and hypoxia. On the other hand, in HeLa cells, these pathways are induced by HIF‐1α only under hypoxia.
Ioanna‐Maria Gkotinakou +6 more
wiley +1 more source
Hydrocortisone dosage at 3 years of age is positively correlated with body mass index at 10 years in individuals with 21-hydroxylase deficiency. [PDF]
Miyahara Y +7 more
europepmc +1 more source
Fetal growth restriction is associated with placental metabolic adaptations. In small‐for‐gestational‐age placenta (SGA), cholesterol receptors and steroidogenic enzymes are upregulated, enhancing steroidogenesis. NAD salvage pathway is also increased to support NADP+/NADPH requirements.
Serena Xodo +4 more
wiley +1 more source
Optimized Homologous Sequence Alignment for the Identification of CYP21A2 Variants in 21-Hydroxylase Deficiency Using Next-Generation Sequencing Technology. [PDF]
Chen Y +9 more
europepmc +1 more source

