Some 50 cases have been described since the 1970s — largely concentrated in the Dominican Republic, Papua New Guinea, Egypt, and Turkey.
Salinas, an isolated village in the Dominican Republic has a proportionally high number of cases. The country calls the condition Guevedoces, roughly translating to “penis at 12.”
A recent BBC magazine story profiles children with the condition. Johnny was raised as Felicita when he was young. When the child neared puberty his penis grew and testicles descended.
On reflecting on his past, Johnny said he didn’t like wearing dresses and would rather play ball with the boys.
His transition from girl to boy made Johnny’s time at school difficult. “They used to say I was a devil, nasty things, bad words and I had no choice but to fight them because they were crossing the line,” he told the BBC.
Another child, Carla, who will be Carlos, started changing at age 7. The child’s mother was the first to see the change.
“When she turned five I noticed that whenever she saw one of her male friends she wanted to fight with him. Her muscles and chest began growing. You could see she was going to be a boy. I love her however she is. Girl or boy, it makes no difference.”
This condition, officially know as 5-alpha reductase deficiency, is caused by a genetic mutation in males. Their bodies cannot convert the male hormone testosterone into another hormone dihydrotesterone, which is key for the development of male sex organs while in the womb, according to the NIH.
At birth, affected babies’ genitalia may seem entirely female or ambiguous. During puberty, the child’s penis grows, muscle mass increases, facial hair sprouts. Usually men with this condition are sterile.
When the child’s true sex is revealed, it is up them with the help of families to choose their gender. According to Dr. Julianne Imperato-McGinley at Cornell Medical College who studied the condition in the 1970s, most children opt to transition to male. Some opt for surgery and remain female.
Numerous genetic and medical conditions also cause ambiguous genitalia in newborns. About one in 1,500 to one in 2,000 babies born are intersex (previously know as hermaphrodite), according to the Intersex Society of North America.
