Genetic Disorder many children wish to have

The story of Patrick Burleigh: I got my first pubic hair when I was 2 years old. I couldn’t talk, I could barely walk, but I started growing a bush. Or so they tell me. I have no recollection of a time before puberty, before the carnal cravings, the impulses, the angst and anger and violence. There was no prelapsarian age of innocence for me; I was born, I took a huge bite of the apple, and, by 2 years old, I was pretty much ready to get busy with Eve. It was the same for my father, and for his father, and for his father, and for the men in my family going back as far as we have records. We’ve all carried the same hereditary genetic mutation. On chromosome 2 in the DNA of all human beings, there’s a gene called the luteinizing hormone/choriogonadotropin receptor (LHCGR). In women of reproductive age, the LHCGR triggers ovulation; in men, it triggers testosterone production. But somewhere back in the lost recesses of my family’s genetic history, an unfortunate ancestor of mine was born with a mutant LHCGR gene. 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. That is, until a little over four years ago, when my wife and I were trying to have a baby of our own, an endeavor that took two years and countless episodes of joyless appointment sex before we finally decided to do in vitro fertilization. I came in a cup, my wife pumped her body full of hormones, scientists fertilized the eggs, and we ended up with five viable embryos. Everything looked great. And then I was faced with the hardest decision of my life. We learned that we could biopsy the embryos to find out if any of them carried the mutant LHCGR gene: the mutant responsible for a childhood rife with shame, embarrassment, and bullying; the mutant responsible for my violent, antisocial behavior as a boy; the mutant responsible for the troubled adolescence that my father, grandfather, great-grandfather, and I all endured, an adolescence that nearly delivered each of us to jail or worse. If one of our embryos tested positive for a mutation of the LHCGR gene, we could eliminate it. My body would be the final destination of the disease that had defined my family for generations. There was no reason not to do this. But I hesitated. Yes, my childhood had been unusually challenging, but I was now 34 years old and, by most metrics, I had a great life. How much of that life would have been different if I’d cast off the very thing that had made me me? Then again, could I watch as my son suffered, knowing I could have saved him from that suffering? I didn’t know. So I went back. Back to my childhood. Back to my infancy. Back to that first little baby pube. Here is the rest of the story: #pedigree #Genotype #Phenotype #DominantAllele #RecessiveAllele #AutosomalTrait #sexlinkedTrait #Homozygous #Heterozygous #Genetics #geneticsClass12 #GeneticsLecture #geneticsBiology #geneticsCrashCourse #geneticsAndHeredity #PedigreeAnalysis #pedigreeAnalysisPractice #pedigreeAnalysisGenetics #pedigreeAnalysisProbability #pedigreeAnalysisAnswers #pedigreeCharts #HowToSolvePedigreeProblems #solvePedigreeProblems #testotocsicisis