Chethan Yamichannaiah, Saba Samad Memon, Vijaya Sarathi, Anurag Ranjan Lila, Rohit Barnabas, Darpan Raghav, Vishwambhar V Bhandare, Sneha Arya, Hemangini Thakkar, Virendra Ashokrao Patil, Manjiri Karlekar, Ambarish Kunwar, Tushar Bandgar
BACKGROUND: Aromatase deficiency is a rare disorder, with only a few cases reported in India. We describe a single-center experience in western India, with a systematic review of genetically proven 46,XX aromatase deficiency patients to evaluate hormonal parameters. METHODS: Retrospective review of case records, collating phenotypic and genotypic data and molecular modeling. Systematic review of 46,XX aromatase deficiency, analyzing data on gonadotropins, estrogen and androgens...
June 20, 2023: Annales D'endocrinologie