Severe Hyperandrogenism in 46,XX Congenital Adrenal Hyperplasia: Molecular Physiopathology, Late Diagnoses, and Personalized Management

Gianluca Cera, Andrea Corsello, Roberto Novizio, Vincenzo Di Donna, Pietro Locantore, Rosa Maria Paragliola, Carolyn M Ecelbarger · 2024

Read Severe Hyperandrogenism in 46,XX Congenital Adrenal Hyperplasia: Molecular Physiopathology, Late Diagnoses, and Personalized Management by Gianluca Cera, Andrea Corsello, Roberto Novizio, Vincenzo Di Donna, Pietro Locantore, Rosa Maria Paragliola, Carolyn M Ecelbarger (2024) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/pmc-11545884.txt.

Description

A peer-reviewed research article from Europe PMC (2024). Congenital Adrenal Hyperplasia (CAH) is a group of autosomal recessive endocrine disorders characterized by alteration in adrenal hormonal secretions. The most common form is caused by CYP21A2 mutations that result in 21-hydroxylase deficiency. Clinical features can vary, from salt-wasting forms, characterized by a lack of mineralocorticoid activity with a risk of perinatal-onset adrenal crises, to “simple-virilizing” forms with sufficient aldosterone secretion, up to milder “non-classical” forms, with a variable grade of hyperandrogenism but no severe hormonal deficiencies.

Catalog record

CREATORGianluca Cera, Andrea Corsello, Roberto Novizio, Vincenzo Di Donna, Pietro Locantore, Rosa Maria Paragliola, Carolyn M Ecelbarger
YEAR2024
COLLECTIONPAPERS
FORMATTXT
FILE SIZE35 KB
VERSION1.0
LICENSECC BY 4.0
RIGHTSCC BY
SOURCEEurope PMC

Source: https://europepmc.org/articles/PMC11545884

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