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Case report: Development of central precocious puberty in a girl with late-diagnosed simple virilizing congenital adrenal hyperplasia complicated with Williams syndrome

Congenital adrenal hyperplasia (CAH) and Williams Syndrome (WS; MIM # 194050) are distinct genetic conditions characterized by unique clinical features. 21-Hydroxylase deficiency (21-OHD; MIM #201910), the most common form of CAH, arises from mutations in the CYP21A2 gene, resulting in virilization...

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Principais autores: Eun Young Joo, Myung Ji Yoo, Su Jin Kim, Woori Jang, Ji-Eun Lee
Formato: Artigo
Idioma:Inglês
Publicado: Frontiers Media S.A. 2024-04-01
Series:Frontiers in Endocrinology
Assuntos:
case report
congenital adrenal hyperplasia
simple virilizing type
central precocious puberty
late diagnosis
Williams syndrome
Acceso en liña:https://www.frontiersin.org/articles/10.3389/fendo.2024.1352552/full
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