The biosynthesis of steroid hormones is a difficult process in which Cholesterol is transformed into mineralocorticoids, glucocorticoids and sex hormones via a series of hydroxylation, oxidation and reduction steps. To better understand the molecular level of sexual organ maturation in humans, the classical pathway and the alternative pathway of this process are produced. The pathways produce the main steroid hormones in humans, namely Progestogen, Corticosteroids, Androgens and Estrogens. The classical pathway is meant to produce an important steroid called Androgen, which is a synthetic steroid hormone that regulates sexual development and the maintenance of the male sex organs via binding to androgen receptors. Next to the classical pathway of androgen synthesis, alternative pathways are known, such as [https://www.wikipathways.org/index.php/Pathway:WP4524]. For more information and details about Androgens and the diseases linked with this molecular pathway, please visit Chapter 37 of the book of Blau (ISBN 3642403360 (978-3642403361)) . We have recently expanded this pathway with information from the Glucocorticoid and Mineralocorticoid Metabolism (previously captured in WP273; overlapping content is indicated with double borders for individual datanodes; information previously missing is added with dashed borders). Mineralocorticoid (M) and glucocorticoid (G) receptors regulate transcription; either through 11-beta-hydroxysteroid dehydrogenase influencing aldosterone specificity on epithelial M-receptors or by modulcation of AP-1- and NF-kappa-B-induced transcription through G-receptors. Specifically for the first case, aldosterone resistance in an autosomal form (aka pseudohypoaldosteronism) is linked to loss-of-function in epithelical Na-channel subunits [http://www.annualreviews.org/doi/abs/10.1146/annurev.med.48.1.231].

Authors

Eline Sanders , Ingebude , Denise Slenter , Irene Hemel , Egon Willighagen , Friederike Ehrhart , Eric Weitz , and Finterly Hu

Cited In

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Organism

Homo sapiens

Communities

Inborn Errors of Metabolism (IEM) Pathways Rare Diseases

Annotations

Pathway Ontology: lipoid congenital adrenal hyperplasia pathway steroid biosynthetic pathway classic metabolic pathway apparent mineralocorticoid excess syndrome pathway C19-steroid hormone biosynthetic pathway C21-steroid hormone biosynthetic pathway congenital adrenal hyperplasia pathway disease pathway glucocorticoid biosynthetic pathway

Disease Ontology: congenital adrenal hyperplasia apparent mineralocorticoid excess syndrome cortisone reductase deficiency obsolete apparent mineralocorticoid excess pseudohermaphroditism congenital adrenal insufficiency

Participants

References

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