Johnny was a brought up a girl. There was no reason not to. He had what appeared to be a vagina. So he wore little red dresses and went to school, and did girly things. But he was never happy being a girl.
“I never liked to dress as a girl and when they bought me toys for girls I never bothered playing with them - when I saw a group of boys I would stop to play ball with them,” Johnny tells BBC.
Once Johnny hit puberty, a penis began to appear mysteriously, and his testicles descended. Apparently, Johnny was a boy all along, but a genetic mutation prevented his genitals from developing until puberty.
Catherine and his cousin Carla, Guevedoces in the Dominican Republic.
Johnny, who was previously called Felicita, is not the only anomaly in Salinas, a small village in the Dominican Republic. The filmmakers from BBC also spoke to Carla, a seven year old “girl” who was on the brink of changing into Carlos. His mother could see the changes coming even before he hit puberty.
"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.”
Johnny and Carlos belong to a small group of individuals who suffer from a rare genetic disorder that prevents the production of an enzyme called 5α-reductase, which is responsible for metabolism of testosterone to dihydrotestosterone, or DHT. Because DHT aids in the development of male sex organs, the lack of this enzyme causes the male sex organ to be underdeveloped. Children born with this condition appear to have female genitals, and are raised as thus. At puberty, these boys, like all typical males, get a surge of testosterone. This time the body responds, and the penis starts to grow and the testis descends into the scrotum. Secondary sex characteristics, such as increased muscle mass, beards and a deep voice, can also appear.
Officially this condition is called 5-alpha reductase deficiency. In Dominican Republic these men are known as güevedoces which means “penis at twelve”. They are also called “machihembras", meaning “first a woman, then a man.” In Papua New Guinea this phenomenon is called kwolu-aatmwol by the Sambia people. In Salinas where this condition is most prevalent, about one in 90 children are affected by the mutation.
The unusual condition of the guevedoces have lead to the development of a new drug called finasteride that’s used to shrink enlarged prostate, and it works by decreasing the amount of the DHT hormone.
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