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.
Keywords: Bardet‐Biedl syndrome; McKusick‐Kaufman syndrome; genetic testing; primary amenorrhea; reproductive anomalies.
© 2024 The Author(s). Clinical Case Reports published by John Wiley & Sons Ltd.