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A 4-Year-Old Trapped in a Teenager’s Body

We brought you the story of the Linder family, who is trying to stop a genetic disease from passing to another generation. Patrick Burleigh also suffered from a genetic disease, one which meant he began puberty as a baby, just as his father and grandfather did.

Having a mutant LHCGR gene leads to what doctors now call familial male-limited precocious puberty, an extremely rare disease that affects only men because you have to have testicles, which is why it’s also called testotoxicosis. The condition tricks the testicles into thinking the body is ready to go through puberty — so wham, the floodgates open and the body is saturated with testosterone. The result is premature everything: bone growth, muscle development, body hair, the full menu of dramatic physical changes that accompany puberty. Only instead of being 13, you’re 2.

Testotoxicosis affects fewer than one in a million men, and a leading expert estimates that we may only number in the hundreds. Being an anomaly for having pubes when you’re still breastfeeding isn’t typically something one brags about, which is why, like my forefathers, I spent the majority of my life hiding it, lying about it, repressing it, and avoiding it. This feeling of freakishness, of being strange and different, persisted well into adulthood, such that I refused to talk about it with anyone other than close friends and family.

Unlike his ancestors, Burleigh was studied and treated for the condition starting when he was three years old. Eventually, he married and he and his wife began the process of becoming parents through in-vitro fertilization. That's when Burleigh was confronted with the possibility of testing embryos for the mutant LHCGR gene. Would he want to eliminate any embryos that carried it? Unlike the Linders, his condition isn't fatal. To make the decision, he retraced his life dealing with testotoxicosis, and the lives of his father, grandfather, and great-grandfather (who was the youngest soldier to serve in World War I). That gives us a fascinating story that you can read at The Cut. -via Digg

(Image courtesy of Patrick Burleigh)  


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