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Nikhil Lohiya1, Vaman Khadilkar2, Kamini Mehta3, Anuradha Khadilkar4 From 1Fellow, 2Consultant, 4Deputy Director, Department of Growth and Pediatric Endocrine, Hirabai Cowasji Jehangir Medical Research Institute, Pune, Maharashtra, India, 3Consultant, Department of Pediatric Nephrology, Kidney Care Clinic for Children Correspondence to: Dr. Anuradha Khadilkar, Department of Growth and Pediatric Endocrine, Hirabai Cowasji Jehangir Medical Research Institute, Jehangir Hospital, 32, Sassoon Road, Pune 411 001, Maharashtra, India. E-mail: anuradhavkhadilkar@gmail.com Received 08 August 2019 Initial Review 29 August 2019 Accepted 04 November 2019

TWO NOVEL MUTATIONS WITH 17 HYDROXYLASE DEFICIENCY – ALPHA AND BETA PRESENTING AS 46XY DISORDERS OF SEXUAL DEVELOPMENT