JOURNAL ARTICLE

Data from Department of Medical Genetics Provide New Insights into Congenital Adrenal Hyperplasia (Concomitant Mosaic Turner Syndrome and Congenital Adrenal Hyperplasia in 1 of 3 Patients of USP9X Variant-Associated Autism Spectrum Disorder).

  • Published In: Mental Health Weekly Digest, 2025. P. 213 1 of 2

  • Database: Psychology Source 2 of 2

Abstract

The article focuses on a study from Balikesir, Turkey, that investigates the genetic underpinnings of autism spectrum disorder (ASD) in three patients, revealing novel findings related to congenital adrenal hyperplasia and Turner syndrome. The research highlights a rare neurodevelopmental disorder known as X-linked intellectual developmental disorder 99 (XLID99), with two male siblings showing a new gene variant and a female patient exhibiting a unique gene deletion alongside adrenal insufficiency and mosaic Turner syndrome. The study emphasizes the importance of genetic evaluation in diagnosing ASD, particularly for identifying complex and rare conditions. [Extracted from the article]

Additional Information

  • Source:Mental Health Weekly Digest. 2025/12, p213
  • Document Type:Article
  • Subject Area:Health and Medicine
  • Publication Date:2025
  • ISSN:1543-6616
  • Accession Number:190343136
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