Primary Amenorrhea in a 15‐Year‐Old Girl Leading to the Diagnosis of Bardet‐Biedl Syndrome: A Case Report

Primary Amenorrhea in a 15‐Year‐Old Girl Leading to the Diagnosis of Bardet‐Biedl Syndrome: A Case Report

ABSTRACT This case report highlights the clinical complexity of Bardet‐Biedl syndrome, a rare autosomal recessive disorder, emphasizing reproductive anomalies to aid in diagnosis and management. It underscores the importance of thorough assessment and advocates for genetic testing to optimize care,...

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Bibliographic Details
Main Authors: Azka Noor, Digbijay Kunwar, Zahra Tasneem, Saad Ameer Ishaq
Format: Article
Language:English
Published: Wiley 2025-01-01
Series:Clinical Case Reports
Subjects:
Bardet‐Biedl syndrome
genetic testing
McKusick‐Kaufman syndrome
primary amenorrhea
reproductive anomalies
Online Access:https://doi.org/10.1002/ccr3.70023
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Summary:ABSTRACT This case report highlights the clinical complexity of Bardet‐Biedl syndrome, a rare autosomal recessive disorder, emphasizing reproductive anomalies to aid in diagnosis and management. It underscores the importance of thorough assessment and advocates for genetic testing to optimize care, despite current financial, and laboratory constraints.
ISSN:2050-0904

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