Adrenal hyperplasia congenital: beginning of developmental and sexual differentiation disorders
Year: 2015
Type: article
Abstract: Adrenal hyperplasia congenital is a genetic disease that develops from an enzyme deficiency secondary to alterations in protein synthesis. This deficit disturbs the pathways of adrenal metabolism, specifically occurring in the cortex of the gland, such as, the glucocorticoid, mineralocorticoid and the sex hormones metabolism. These molecular variations translated to the clinics are expressed in a variety of possible presentations, each depending of the enzyme that is affected, since electrolyte, metabolic, renal abnormalities or and gastrointestinal tract disturbances, but one of these is commonly for all presentation, the development and sexual differentiation disorders. Among the most severe forms of adrenal hyperplasia congenital alterations of the external sexual characters that basically translate into virilization of the genitals duringgestational development, as well as precocious puberty, amenorrhea, infertility observed, among other. MÉD.UIS. 2015;28(1):125-132.Keywords: Adrenal Hyperplasia congenital. Sexual Development. Genetics. Sex Differentiation. Sex Characteristics.
Author: Ana Herrera-Gómez
Institution: Universidad Industrial de Santander
Language: English
Subfield: Endocrinology, Diabetes and Metabolism
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W1614872659