Advances in the analytical methodologies: Profiling steroids in familiar pathways-challenging dogmas

Bloem, Liezl M.; Storbeck, Karl-Heinz; Swart, Pieter; Toit, Therina du; Schloms, Lindie; Swart, Amanda C.

doi:10.1016/j.jsbmb.2015.04.009

Cited by 51 publications

(25 citation statements)

References 54 publications

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“…These techniques have enabled researchers to accurately measure low concentrations of testosterone (<5 nmol/l) and prevent inaccurate measurement due to cross-reactivity with DHEAS as seen in immunoassay methods [ 31 ]. This has led to assignment of lower cut-off values for total and free testosterone [ 32 ], thereby improving diagnosis and subclassification of PCOS women [ 33 ]. However hirsutism scores do not necessarily correlate with steroid concentrations measured in affected women [ 29 ].…”

Section: Hyperandrogenemia and Pcosmentioning

confidence: 99%

Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology

Dadachanji

Shaikh

Mukherjee

2018

Genetics Research International

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Polycystic ovary syndrome is a multifactorial endocrine disorder whose pathophysiology baffles many researchers till today. This syndrome is typically characterized by anovulatory cycles and infertility, altered gonadotropin levels, obesity, and bulky multifollicular ovaries on ultrasound. Hyperandrogenism and insulin resistance are hallmark features of its complex pathophysiology. Hyperandrogenemia is a salient feature of PCOS and a major contributor to cosmetic anomalies including hirsutism, acne, and male pattern alopecia in affected women. Increased androgen levels may be intrinsic or aggravated by preexisting insulin resistance in women with PCOS. Studies have reported augmented ovarian steroidogenesis patterns attributed mainly to theca cell hypertrophy and altered expression of key enzymes in the steroidogenic pathway. Candidate gene studies have been performed in order to delineate the association of polymorphisms in genes, which encode enzymes in the intricate cascade of steroidogenesis or modulate the levels and action of circulating androgens, with risk of PCOS development and its related traits. However, inconsistent findings have impacted the emergence of a unanimously accepted genetic marker for PCOS susceptibility. In the current review, we have summarized the influence of polymorphisms in important androgen related genes in governing genetic predisposition to PCOS and its related metabolic and reproductive traits.

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Section: Hyperandrogenemia and Pcosmentioning

confidence: 99%

Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology

Dadachanji

Shaikh

Mukherjee

2018

Genetics Research International

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“…Deficiencies in the main pathways of steroid biosynthesis have now been described for all major factors and steroidogenic enzymes and the inborn errors of steroidogenesis are well-defined conditions (table 1). Steroid profiling using novel analytical strategies has made clinical diagnosis more straightforward 10–13…”

Section: Inborn Errors Of Steroidogenesismentioning

confidence: 99%

Update on adrenal steroid hormone biosynthesis and clinical implications

2019

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Steroid biosynthesis is a complex process in which cholesterol is converted to steroid hormones with the involvement of multiple enzymes and cofactors. Inborn conditions affecting adrenal steroidogenesis are relatively common in paediatric practice and have serious implications on patient mortality and morbidity. This paper provides an overview of novel insights into human adrenal steroid biosynthesis. Inborn errors of steroidogenesis associated with congenital adrenal hyperplasia are discussed, with a particular focus on the pathophysiology and clinical features of 21-hydroxylase deficiency. The final section of the review presents more recent findings and clinical implications of adrenal-specific androgen biosynthesis.

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“…Recently, it has been shown that steroids downstream of the major adrenal androgen precursor 11β-hydroxyandrostenedione (11OHA4), generated from A4 via the adrenal CYP11B1 enzyme (18), are active 11-oxygenated androgens (19). 11-keto-testosterone (11KT) and 11-keto-5α-dihydrotestosterone (11KDHT) (Fig.…”

Section: Pre-receptor Androgen Synthesis and Metabolismmentioning

confidence: 99%

MECHANISMS IN ENDOCRINOLOGY: The sexually dimorphic role of androgens in human metabolic disease

Schiffer

Kempegowda

Arlt

et al. 2017

European Journal of Endocrinology

118

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Female androgen excess and male androgen deficiency manifest with an overlapping adverse metabolic phenotype, including abdominal obesity, insulin resistance, type 2 diabetes mellitus, non-alcoholic fatty liver disease and an increased risk of cardiovascular disease. Here, we review the impact of androgens on metabolic target tissues in an attempt to unravel the complex mechanistic links with metabolic dysfunction; we also evaluate clinical studies examining the associations between metabolic disease and disorders of androgen metabolism in men and women. We conceptualise that an equilibrium between androgen effects on adipose tissue and skeletal muscle underpins the metabolic phenotype observed in female androgen excess and male androgen deficiency. Androgens induce adipose tissue dysfunction, with effects on lipid metabolism, insulin resistance and fat mass expansion, while anabolic effects on skeletal muscle may confer metabolic benefits. We hypothesise that serum androgen concentrations observed in female androgen excess and male hypogonadism are metabolically disadvantageous, promoting adipose and liver lipid accumulation, central fat mass expansion and insulin resistance.

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Advances in the analytical methodologies: Profiling steroids in familiar pathways-challenging dogmas

Cited by 51 publications

References 54 publications

Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology

Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology

Update on adrenal steroid hormone biosynthesis and clinical implications

MECHANISMS IN ENDOCRINOLOGY: The sexually dimorphic role of androgens in human metabolic disease

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