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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3430789PMC
http://dx.doi.org/10.1007/s10815-012-9778-yDOI Listing

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Objectives: To describe four members of a family with DAX1 deficiency caused by a novel variant.

Case Presentation: All family members carried a novel hemizygous variant, p.Gln318Alafs*71.

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AlphaMissense is a valuable resource for discerning important functional regions within proteins, providing pathogenicity heatmaps that highlight the pathogenic risk of specific mutations along the protein sequence. However, due to protein folding and long-range interactions, the actual structural alterations with functional implications may be occurring at a distance from the mutation site. As a result, the identification of the most sensitive structural regions for protein function may be hampered by the presence of mutations that indirectly affect the critical regions from a distance.

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Molecular genetic diagnosis and surgical management in a cohort of children with 46,XY disorders/differences of sex development.

Front Pediatr

January 2025

Division of Paediatric Surgery & Paediatric Urology, Department of Surgery, Prince of Wales Hospital, The Chinese University of Hong Kong, Hong Kong, Hong Kong SAR, China.

Objective: A firm diagnosis revealing the etiology of disorders/differences of sex development (DSD) is most helpful in guiding clinical management. The aim of this study is to investigate molecular genetic diagnoses and surgical treatment in a cohort of children with 46,XY DSD.

Methods: A retrospective study was conducted on children with 46,XY DSD.

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Article Synopsis
  • - The study discusses a case of a male infant diagnosed with Adrenal Hypoplasia Congenita (AHC) due to a new genetic mutation, who exhibited signs of central precocious puberty (CPP) at 9 months old.
  • - The patient initially presented with severe symptoms including hypothermia, weight loss, and was treated in the Pediatric Intensive Care Unit for adrenal crisis, leading to a confirmed diagnosis of AHC through genetic testing that revealed a specific mutation.
  • - The conclusion highlights the rarity of CPP in AHC cases, suggesting that increased awareness among clinicians could enhance early detection and management of this puberty-related complication in affected infants.
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Article Synopsis
  • The text states that a Clinical Vignette is not mandatory for submission or evaluation.
  • It implies that the absence of a Clinical Vignette will not negatively impact the overall assessment.
  • This could suggest a focus on other components of a project or assignment that may hold greater importance.
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