Clinical Update on Congenital Adrenal Hyperplasia: Recommendations from a Multidisciplinary Adrenal Program

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dc.article.number3128
dc.catalogadoraba
dc.contributor.authorUslar Nawrath, Thomas Hermann
dc.contributor.authorOlmos Borzone, Roberto Ignacio
dc.contributor.authorMartinez Aguayo, Alejandro
dc.contributor.authorBaudrand Biggs, René
dc.date.accessioned2025-04-01T15:32:37Z
dc.date.available2025-04-01T15:32:37Z
dc.date.issued2023
dc.description.abstractCongenital adrenal hyperplasia (CAH) is a common genetic disorder in endocrinology, especially its milder clinical presentation, often caused by a partial or total deficiency of the 21-hydroxylase enzyme located in the adrenal cortex. CAH is characterized by the overproduction of androgen, along with variable degrees of cortisol and aldosterone deficiency. The age at diagnosis can provide some information about underlying mutations, with those diagnosed at birth/early infancy more likely to have severe enzymatic defects, which may include adrenal insufficiency, sexual development disorders, short stature in adulthood, hirsutism, and a higher risk for metabolic syndrome and infertility. Non-classic CAH, a milder form of CAH, is usually manifested later in life and is a common differential diagnosis of Polycystic Ovary Syndrome and should be actively evaluated during initial studies of clinical or biochemical hyperandrogenism. The main goals of CAH treatment are hormone supplementation for severe cases, controlling adrenal androgen overproduction to minimize long-term side effects, managing fertility and genetic counseling, and optimizing patients' quality of life.
dc.description.funderFONDECYT; Folio: 1190419
dc.description.funderANID ANILLO; Folio: ACT210039
dc.format.extent12 páginas
dc.fuente.origenORCID
dc.identifier.doi10.3390/jcm12093128
dc.identifier.eissn2077-0383
dc.identifier.scopusid2-s2.0-85159212987
dc.identifier.urihttps://doi.org/10.3390/jcm12093128
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/103078
dc.identifier.wosidWOS:000987662500001
dc.information.autorucEscuela de Medicina; Uslar Nawrath, Thomas Hermann; S/I; 187161
dc.information.autorucEscuela de Medicina; Olmos Borzone, Roberto Ignacio; 0000-0002-7129-9543; 163754
dc.information.autorucEscuela de Medicina; Martinez Aguayo, Alejandro; 0000-0002-1677-3513; 1003862
dc.information.autorucEscuela de Medicina; Baudrand Biggs, René; 0000-0002-8655-4957; 1024
dc.issue.numero9
dc.language.isoen
dc.nota.accesocontenido completo
dc.revistaJOURNAL OF CLINICAL MEDICINE
dc.rightsacceso abierto
dc.rights.licenseAttribution 4.0 International
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/
dc.subjectCongenital adrenal hyperplasia
dc.subjectNon-classic CAH
dc.subjectHyperandrogenism
dc.subjectRecessive genetic disorder
dc.subject.ddc610
dc.subject.deweyMedicina y saludes_ES
dc.titleClinical Update on Congenital Adrenal Hyperplasia: Recommendations from a Multidisciplinary Adrenal Program
dc.typeartículo de revisión
dc.volumen12
sipa.codpersvinculados187161
sipa.codpersvinculados163754
sipa.codpersvinculados1003862
sipa.codpersvinculados1024
sipa.trazabilidadORCID;2025-03-03
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