#113 XXY (Klinefelter Syndrome) with Ryan Bregante

Carolina is the first person from Brazil to share her story on our podcast. She was 35 when she was pregnant so her OBGYN was concerned due to her older age. She asked her to proceed with doing an NIPT. After the results came in, her doctor called her and said she was having a boy with XXY. The doctor also told her his life would be fine, and that he might have troubles with fertility. Her son is also a rainbow baby, which seems very common among our XXYcommunity.

17 Okt 202337min

Melvin Amantiad was born and raised in Hawaii. When Melvin was in his early 20s (1980s for reference), he went in for a check-up for prostate cancer because he was having pain in his growing/stomach area. Because of his body shape, his doctor suggested doing a karyotype test. The test results came back positive for XXY. He was given a pamphlet from the doctor and sent on his way. His doctors scared him with the idea of being put on hormone treatment that it would make him very aggressive and get into trouble with the law.

3 Okt 20231h 5min

Tara Whitfield shares her story about her son Westin. Her first pregnancy ended in a miscarriage. When Tara was ten weeks pregnant, she opted for NIPT. Being a nurse, when the results came back positive for XXY, she had never heard of it. Tara has listened to every single podcast, and it has been a light for her in dark times during her diagnosis. She hopes that her story will encourage others to share their stories.

19 Sep 20231h 4min

Amanda found out she was pregnant in 2020. Having a background in the OBGYN field, they did an NIPT because they wanted to know the gender of their child. Amanda went online to her medical account to find the test results were completed before her doctor could call her. She saw the results said male, but it was also flagged as XXY. Her doctor's office didn't know much about the diagnosis and referred them to a genetic counselor who said, "if your baby is going to be diagnosed with anything, this is the one you want."

29 Aug 202346min

Daniel Sharp was overweight at 24 and went to the doctor to see if they had any answers to why. The doctor talked to Daniel about having low vitamin D levels and lower testosterone. She suspected he had Klinefelter syndrome, but no further testing was done to confirm. After meeting his first wife, they tried to have a baby for two years, with no results. He did a sperm test and found out he had zero sperm. The doctors attributed his no sperm to him being overweight. His first wife divorced him because he was unable to have kids.

22 Aug 202352min

Nick Rodriguez has had his own contracting business since the start of the pandemic. He plays semi-professional football as an offensive tackle, and his team won the state championship. When Nick was 14, while playing football, he couldn't build muscle like his gym peers. His freshman year's max on bench press was 95 pounds, weighing 215 pounds at 6'4". His mother took him to the doctor, knowing he could not build muscle, and the testing began. Later, Nick found out he was diagnosed with Klinefelter syndrome/47XXY.

15 Aug 20231h 13min

Mariah, 25, and Romone, 27, learned about Klinefelter syndrome at their 20-week appointment after their results from NIPT testing. They opted out of doing an amnio and waited till birth to confirm. When they learned about the diagnosis over the phone, being on Google while the nurse told them about the diagnosis was horrifying. The nurse tried to comfort them by saying its most likely a false positive.

8 Aug 202352min

Deepak's family is originally from India. He was born in Brooklyn and raised in West Texas. At age 28, he and his wife started trying to have kids. After visiting over 14 doctors, many told him he didn't fit the stereotype of having Klinefelter syndrome. At 43, he's decided to share his story to make a difference. He says, "It's been a journey."

1 Aug 20231h 14min