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A Clinical Case of Aromatase Deficiency: Diagnosis, Management, and Challenges.

  • Unique Paper ID: 174529
  • Volume: 11
  • Issue: 10
  • PageNo: 4013-4016
  • Abstract:
  • Background : Aromatase deficiency is a rare genetic disorder that impairs estrogen synthesis, resulting in a range of clinical manifestations such as abnormal genitalia, delayed puberty and the development of male-like features in females. This case study narrates the clinical journey of a 10-year-old girl diagnosed with aromatase deficiency, attributed to mutations in the CYP19A1 gene. It underscores the diagnostic process, challenges faced during treatment, and long-term management strategies.
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  • ISSN: 2349-6002
  • Volume: 11
  • Issue: 10
  • PageNo: 4013-4016

A Clinical Case of Aromatase Deficiency: Diagnosis, Management, and Challenges.

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