Lipoid Congenital Adrenal Hyperplasia due to Steroid Acute Regulatory Protein (STAR) Variants in Three Chinese Patients
Publication date: Available online 14 February 2020Source: The Journal of Steroid Biochemistry and Molecular BiologyAuthor(s): Hong Chen, Qianru Zhang, Ruimin Chen, Xin Yuan, Xiangquan Lin, Xiaohong Yang, Ying ZhangAbstractCongenital adrenal hyperplasia (CAH) encompasses a group of autosomal recessive diseases characterized by enzymatic defects in steroid synthesis. Lipoid congenital adrenal hyperplasia (LCAH) is the most severe form of CAH, insofar as the initial step of steroid synthesis is impaired. Variants in the steroid acute regulatory (STAR) gene are responsible for LCAH. To describe the clinical and genetic charac...
Source: The Journal of Steroid Biochemistry and Molecular Biology - February 15, 2020 Category: Biochemistry Source Type: research

Serum Vitamin D Level is Associated with Speed of Processing in Multiple Sclerosis Patients
Publication date: Available online 12 February 2020Source: The Journal of Steroid Biochemistry and Molecular BiologyAuthor(s): Hala Darwish, Natali Farran, Salem Hannoun, Natalie Tadros, Bassem Yamout, Nabil K. El Ayoubi, Samia J. KhouryAbstractMultiple Sclerosis (MS) is often associated with low serum 25(OH)D levels, as well as cognitive dysfunctions. The relationship between 25(OH)D and the most commonly affected cognitive domain in MS; processing speed, is poorly explored. The purpose of this study is to: (1) assess the effect of serum 25(OH)D change on processing speed in MS, and (2) explore the relationship between se...
Source: The Journal of Steroid Biochemistry and Molecular Biology - February 13, 2020 Category: Biochemistry Source Type: research

Depression-like behaviors are accompanied by disrupted mitochondrial energy metabolism in chronic corticosterone-induced mice
Publication date: Available online 8 February 2020Source: The Journal of Steroid Biochemistry and Molecular BiologyAuthor(s): Xiaoxian Xie, Qichen Shen, Chunan Yu, Qingfeng Xiao, Jiafeng Zhou, Ze Xiong, Zezhi Li, Zhengwei FuAbstractStress exerts its negative effects by interference with mitochondrial energy production in rodents, and is able to impair mitochondrial bioenergetics. However, the underlying mechanism that stress hormone impacts depression-like behaviors and mitochondrial energy metabolism is still not well understood. Here, we investigated the changes of depression-like behaviors and mitochondrial energy metab...
Source: The Journal of Steroid Biochemistry and Molecular Biology - February 9, 2020 Category: Biochemistry Source Type: research

CYP17A1 exhibits 17αhydroxylase/17,20-lyase activity towards 11β-hydroxyprogesterone and 11-ketoprogesterone metabolites in the C11-oxy backdoor pathway
In this study the 17α-hydroxylase and 17,20-lyase activity of CYP17A1 towards the unconventional C11-oxy C21 steroid substrates and their 5α- and 3α,5α-reduced metabolites was investigated in transfected HEK-293 cells. CYP17A1 catalysed the 17α-hydroxylation of 11OHP4 to 21dF and 11-ketoprogesterone (11KP4) to 21-deoxycortisone (21dE) with negligible hydroxylation of their 5α-reduced metabolites while no lyase activity was detected. The 3α,5α-reduced C11-oxy C21 steroids—5α-pregnan-3α,11β-diol-20-one (3,11diOH-DHP4) and 5α-pregnan-3α-ol-11,20-dione (alfaxalone) were rapidly hydroxylated to 5α-pregnan-3α,11...
Source: The Journal of Steroid Biochemistry and Molecular Biology - February 8, 2020 Category: Biochemistry Source Type: research

Lower total 25-hydroxyvitamin D but no difference in calculated or measured free 25-hydroxyvitamin D serum levels in patients with primary hyperparathyroidism
Publication date: Available online 3 February 2020Source: The Journal of Steroid Biochemistry and Molecular BiologyAuthor(s): Lingqiong Meng, Chi Su, Sue A Shapses, Aseel Al-Dayyeni, Yuling He, Xiangbing WangAbstractTo evaluate the measured free 25-hydroxyvitamin D [25(OH)D] levels in patients with hyperparathyroidism (PHPT) and healthy controls. Eighty patients with PHPT(n = 40) and age and BMI matched controls (n = 40) were examined. Serum levels of total or free 25(OH)D, vitamin D binding protein (DBP), intact parathyroid hormone (iPTH) and calcium were measured. There was no significant difference in age (61.2â...
Source: The Journal of Steroid Biochemistry and Molecular Biology - February 4, 2020 Category: Biochemistry Source Type: research

Synthesis and anti–tumour, immunomodulating activity of diosgenin and tigogenin conjugates
Publication date: Available online 1 February 2020Source: The Journal of Steroid Biochemistry and Molecular BiologyAuthor(s): O. Michalak, P. Krzeczyński, M. Cieślak, P. Cmoch, M. Cybulski, K. Królewska-Golińska, J. Kaźmierczak-Barańska, B. Trzaskowski, K. OstrowskaAbstractA series of novel diosgenin (DSG) and tigogenin (TGG) derivatives with diosgenin or tigogenin steroid aglycons linked to levulinic and 3,4–dihydroxycinnamic acids, dipeptides and various amino acids by an ester bond at the C3–oxygen atom of the steroid skeleton has been synthesized. Diosgenyl esters have been prepared by an esterification react...
Source: The Journal of Steroid Biochemistry and Molecular Biology - February 2, 2020 Category: Biochemistry Source Type: research

Selective LC-MRM/SIM-MS based profiling of adrenal steroids reveals metabolic signatures of 17α-hydroxylase deficiency
Publication date: Available online 31 January 2020Source: The Journal of Steroid Biochemistry and Molecular BiologyAuthor(s): Chaelin Lee, Jung Hee Kim, Sun Joon Moon, Jaeyoon Shim, Hugh I. Kim, Man Ho ChoiABSTRACTAdrenal steroids are generated in the adrenal cortex and metabolized by various enzymes such as hydroxylases, dehydrogenases, and reductases. Determining the comprehensive metabolic signatures of adrenal steroids can provide insight into their metabolic functions and roles in the pathophysiology of adrenal diseases, including Cushing’s syndrome (CS) and congenital adrenal hyperplasia (CAH). To this end, we deve...
Source: The Journal of Steroid Biochemistry and Molecular Biology - February 1, 2020 Category: Biochemistry Source Type: research

Maternal Vitamin D Deficiency Induces Transcriptomic Changes in Newborn Rat Lungs
Publication date: Available online 30 January 2020Source: The Journal of Steroid Biochemistry and Molecular BiologyAuthor(s): Erica Mandell, Sharon Ryan, Gregory J. Seedorf, Tania Gonzalez, Steven H. Abman, James C. FleetAbstractVitamin D deficiency (VDD) during pregnancy is common and related to several maternal and fetal morbidities. Vitamin D (VD) plays a role in normal lung development and VDD causes abnormal airway, alveolar, and vascular growth in newborn rats. Here we use an unbiased transcriptomic approach to identify pathways altered in the lungs of offspring from VDD dams. The lungs of newborn offspring from VD r...
Source: The Journal of Steroid Biochemistry and Molecular Biology - January 31, 2020 Category: Biochemistry Source Type: research

Gestational hypercalcemia: prevalence and biochemical profile
In conclusion, most common causes of hypercalcemia were excluded in the majority of women. Hypercalcemic women had a relatively high serum 1,25(OH)2D concentration despite an appropriately suppressed PTH, suggestive of abnormal gestational adaptions. (Source: The Journal of Steroid Biochemistry and Molecular Biology)
Source: The Journal of Steroid Biochemistry and Molecular Biology - January 31, 2020 Category: Biochemistry Source Type: research

Circulating 25-hydroxyvitamin D concentration and cause-specific mortality in the Melbourne Collaborative Cohort Study
Publication date: Available online 30 January 2020Source: The Journal of Steroid Biochemistry and Molecular BiologyAuthor(s): Alicia K Heath, Allison M Hodge, Peter R Ebeling, David Kvaskoff, Darryl W Eyles, Graham G Giles, Dallas R English, Elizabeth J WilliamsonAbstractVitamin D deficiency is associated with higher all-cause mortality, but associations with specific causes of death are unclear. We investigated the association between circulating 25-hydroxyvitamin D (25(OH)D) concentration and cause-specific mortality using a case-cohort study within the Melbourne Collaborative Cohort Study (MCCS). Eligibility for the cas...
Source: The Journal of Steroid Biochemistry and Molecular Biology - January 31, 2020 Category: Biochemistry Source Type: research

CYP17A1 exhibits 17α-hydroxylase/17,20-lyase activity towards 11β-hydroxyprogesterone and 11-ketoprogesterone metabolites in the C11-oxy backdoor pathway
In this study the 17α-hydroxylase and 17,20-lyase activity of CYP17A1 towards the unconventional C11-oxy C21 steroid substrates and their 5α- and 3α,5α-reduced metabolites was investigated in transfected HEK-293 cells. CYP17A1 catalysed the 17α-hydroxylation of 11OHP4 to 21 dF and 11-ketoprogesterone (11KP4) to 21-deoxycortisone (21dE) with negligible hydroxylation of their 5α-reduced metabolites while no lyase activity was detected. The 3α,5α-reduced C11-oxy C21 steroids —5α-pregnan-3α,11β-diol-20-one (3,11diOH-DHP4) and 5α-pregnan-3α-ol-11,20-dione (alfaxalone) were rapidly hydroxylated to 5α-pregnan-3Î...
Source: The Journal of Steroid Biochemistry and Molecular Biology - January 31, 2020 Category: Biochemistry Source Type: research

In memoriam: AW Norman, the founding father of the Vitamin D Workshops
Publication date: Available online 30 January 2020Source: The Journal of Steroid Biochemistry and Molecular BiologyAuthor(s): Roger KU Leuven (Source: The Journal of Steroid Biochemistry and Molecular Biology)
Source: The Journal of Steroid Biochemistry and Molecular Biology - January 30, 2020 Category: Biochemistry Source Type: research

Unveiling molecular associations of polymorphic variants of VDR gene (FokI, BsmI and ApaI) in multiple myeloma patients of Indian population
In conclusion, this study provided initial evidences of association between 25(OH)D insufficiency, VDR gene polymorphism and MM development. Thus, we suggest that a study involving assessment of 25(OH)D levels and VDR gene polymorphism in large patients’ cohort might substantiate their role in MM development which would further provide impetus to give 25(OH)D supplementation along with conventional chemotherapeutic agents for myeloma treatment in future. (Source: The Journal of Steroid Biochemistry and Molecular Biology)
Source: The Journal of Steroid Biochemistry and Molecular Biology - January 30, 2020 Category: Biochemistry Source Type: research

Fibroblast growth factor 23 counters vitamin D metabolism and action in human mesenchymal stem cells
In this study, we tested the hypothesis that FGF23 inhibits vitamin D metabolism and action in hMSCs. hMSCs were isolated from discarded marrow during hip arthroplasty, including two subjects receiving hemodialysis and a series of 20 subjects (aged 49-83 years) with estimated glomerular filtration rate (eGFR) data. The direct in vitro effects of rhFGF23 on hMSCs were analyzed by RT-PCR, Western immunoblot, and biochemical assays. Ex vivo analyses showed positive correlations for both secreted and membrane-bound αKlotho gene expression in hMSCs with eGFR of the subjects from whom hMSCs were isolated. There was a downregula...
Source: The Journal of Steroid Biochemistry and Molecular Biology - January 30, 2020 Category: Biochemistry Source Type: research

Prevalence and factors associated with hypovitaminosis D in adolescents from a sunny country: findings from the ERICA survey
In conclusion, there is a high prevalence of Brazilian adolescents at risk of hypovitaminosis D, independent of region. Due to their potential benefits, lifestyle changes should be stimulated, including healthier food choices and spending more time outdoors (with sun protection). (Source: The Journal of Steroid Biochemistry and Molecular Biology)
Source: The Journal of Steroid Biochemistry and Molecular Biology - January 30, 2020 Category: Biochemistry Source Type: research