Jonny and Carla (in the BBC article) are Güevadoces. Compare them to “normal” boys and girls 1) at birth and 2) after puberty, at the chromosomal, gonadal, and phenotypic level. How did their development before birth differ from a “normal” boy or girl? What caused it to happen? How does their condition compare to Maria Patiño’s?
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A new article in BBC Magazine tells the story of some children in the Dominican Republic with this condition, who are known in the country as Guevedoces, "One child named Johnny was raised as a girl, but when he matured and neared puberty, he grew male sexually organs, according to the BBC.
Children with the condition are genetically male, meaning they have one X and one Y chromosome. However, as they develop in the womb, a genetic mutation prevents their bodies from converting the male hormone testosterone into a hormone called dihydrotestosterone, or DHT. Because DHT is responsible for the development of male sex organs, the lack of DHT means the male organs don't develop properly.When children with the condition are born, their external genitals look female, or in some cases, appear ambiguous.
But during puberty, Guevedoces, like typical males, experience an increase in testosterone. The body appears to respond to these higher levels of testosterone — the male sex organs grow larger, and secondary sex characteristics — such as increased muscle mass and a deep voice — can also appear.Men with this condition, officially called 5-alpha reductase deficiency, are usually infertile, and often do not develop much facial or body hair. Although most children with this condition are raised as girls, about half identify themselves as male after puberty
.Maria Patiño is a 46,XY womanwho has androgen insensitivity syndrome
Androgen insensitivity syndrome (AIS) is a rare condition that affects the development of a child's genitals and reproductive organs.Child born with AIS is genetically male, but the external appearance of their genitals may be female or somewhere between male and female
AIS is caused by a genetic fault that's usually passed on to a child by their mother.
Despite being genetically male, the body doesn't respond to testosterone (the male sex hormone) properly and male sexual development doesn't happen as normal.The male sex organ doesn't form or is underdeveloped, which means the child's genitals may appear female, or between male and female. However, they don't have a womb or ovaries and have fully or partially undescended testicles.
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