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.
Authors
- Digbijay Kunwar (ORCID: https://orcid.org/0000-0001-8504-5432)
- Sauid Ishaq (ORCID: https://orcid.org/0000-0003-1458-4708)
- Zahra Tasneem
- Azka Noor
Institutions
- Nishtar Medical College and Hospital (PK)
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