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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| Format: | Article |
| Language: | English |
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Wiley
2025-01-01
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| Series: | Clinical Case Reports |
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| Online Access: | https://doi.org/10.1002/ccr3.70023 |
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| _version_ | 1832589898178101248 |
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| author | Azka Noor Digbijay Kunwar Zahra Tasneem Saad Ameer Ishaq |
| author_facet | Azka Noor Digbijay Kunwar Zahra Tasneem Saad Ameer Ishaq |
| author_sort | Azka Noor |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-3afe735864e447499d2f68f335cea4da |
| institution | Kabale University |
| issn | 2050-0904 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Clinical Case Reports |
| spelling | doaj-art-3afe735864e447499d2f68f335cea4da2025-01-24T05:08:45ZengWileyClinical Case Reports2050-09042025-01-01131n/an/a10.1002/ccr3.70023Primary Amenorrhea in a 15‐Year‐Old Girl Leading to the Diagnosis of Bardet‐Biedl Syndrome: A Case ReportAzka Noor0Digbijay Kunwar1Zahra Tasneem2Saad Ameer Ishaq3Nishtar Medical University Hospital Multan PakistanBagahi Primary Healthcare Centre Birgunj NepalNishtar Medical University Hospital Multan PakistanNishtar Medical University Hospital Multan PakistanABSTRACT 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.https://doi.org/10.1002/ccr3.70023Bardet‐Biedl syndromegenetic testingMcKusick‐Kaufman syndromeprimary amenorrheareproductive anomalies |
| spellingShingle | Azka Noor Digbijay Kunwar Zahra Tasneem Saad Ameer Ishaq Primary Amenorrhea in a 15‐Year‐Old Girl Leading to the Diagnosis of Bardet‐Biedl Syndrome: A Case Report Clinical Case Reports Bardet‐Biedl syndrome genetic testing McKusick‐Kaufman syndrome primary amenorrhea reproductive anomalies |
| title | Primary Amenorrhea in a 15‐Year‐Old Girl Leading to the Diagnosis of Bardet‐Biedl Syndrome: A Case Report |
| title_full | Primary Amenorrhea in a 15‐Year‐Old Girl Leading to the Diagnosis of Bardet‐Biedl Syndrome: A Case Report |
| title_fullStr | Primary Amenorrhea in a 15‐Year‐Old Girl Leading to the Diagnosis of Bardet‐Biedl Syndrome: A Case Report |
| title_full_unstemmed | Primary Amenorrhea in a 15‐Year‐Old Girl Leading to the Diagnosis of Bardet‐Biedl Syndrome: A Case Report |
| title_short | Primary Amenorrhea in a 15‐Year‐Old Girl Leading to the Diagnosis of Bardet‐Biedl Syndrome: A Case Report |
| title_sort | primary amenorrhea in a 15 year old girl leading to the diagnosis of bardet biedl syndrome a case report |
| topic | Bardet‐Biedl syndrome genetic testing McKusick‐Kaufman syndrome primary amenorrhea reproductive anomalies |
| url | https://doi.org/10.1002/ccr3.70023 |
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