Two Israeli physicians, who set out to masculinize a patient with testosterone therapy, ended up discovering a new genetic mutation and pushing the limits of male fertility.
It all started eight years ago, when a young Israeli man walked into the office of Dr. Karen Tordjman, a senior lecturer at Tel Aviv University’s Sackler Faculty of Medicine. His girlfriend (now his wife) convinced him to find out why his genitals were small and heavily scarred.
Tordjman and her Sackler colleague, Dr. Amnon Botchan, discovered in medical records that two of the patient’s uncles had been diagnosed with androgen receptor insensitivity — a rare condition that results in the body under-responding to the androgen hormones that drive male sexual development.
“There are hundreds of mutations that have been reported in the androgen receptor gene,” Tordjman tells ISRAEL21c. The young Israeli, who had served in a Navy commando unit despite his slight build, had a mutation that had not previously been reported.
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