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

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.

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Publication Details

Journal
Clinical Case Reports
Published
2024-12-26
DOI
https://doi.org/10.1002/ccr3.70023
Primary Topic
Genetic and Kidney Cyst Diseases
Type
article
Field-Weighted Citation Impact
0.00
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article

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

Digbijay Kunwar, Sauid Ishaq, Zahra Tasneem, Azka Noor
Clinical Case Reports
Genetic and Kidney Cyst Diseases
article

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

Digbijay Kunwar, Sauid Ishaq, Zahra Tasneem, Azka Noor
article en

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.

Clinical Case ReportsVol. 13(1)
Nishtar Medical College and Hospital (PK)
Gender equality
Openalex Percentile: Top 73%
Genetic and Kidney Cyst Diseases
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