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@article{174529,
        author = {Nikitha Suvarna J and Akshay Kalavant and Shaila Pachapure},
        title = {A Clinical Case of Aromatase Deficiency: Diagnosis, Management, and Challenges.},
        journal = {International Journal of Innovative Research in Technology},
        year = {2025},
        volume = {11},
        number = {10},
        pages = {4013-4016},
        issn = {2349-6002},
        url = {https://ijirt.org/article?manuscript=174529},
        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.},
        keywords = {Aromatase deficiency, Estrogen deficiency, Hormone replacement therapy, Pubertal Delay, Whole Exome Sequencing},
        month = {March},
        }