The GEMINI project, or Genetics E learning for Medicine In Ireland aims to increase awareness of genetic conditions, genetic testing and diagnosis amongst healthcare professionals via educational presentations, videos and media and to assist in integrating tertiary genetics practice with mainstream medicine.
“It was like a bomb being dropped into our life.”
That’s Isaiah Ngwaru. He’s talking about the moment he and his wife, Betina, discovered their child, Tatenda, was intersex. Although they had been raising her as a boy, Tatenda had railed against the strict masculine norms in their hometown of Gutu, Zimbabwe. She wore high heels, dressed in skirts, and expressed a desire to change her gender. It wasn’t until she underwent an operation for a hernia, however, that Tatenda’s condition became medically salient to her parents—the surgeon found “something like an ovary” in the child’s body. “I just knew it. I felt it in my gut. I’m a girl,” says Tatenda in this short documentary.
“She’s Not a Boy” was co-directed by Robert Tokanel and Yuhong Pang. It is part of The Atlantic Selects, an online showcase of short documentaries from independent creators.
At Beyond XXY we are in the process of winding up other interests so as to concentrate more on the Website and Blog, as part of that process we’ve saved a couple of posts which we believe are worthwhile hanging on to, such as this TEDx talk by Cecelia McDonald where she talks about the many ways one can be Intersex as well as, what it is and isn’t. We hope it will offer our readers greater insight into the abundance of life’s diversity.
Did you know that almost 150 million people worldwide are born intersex — with biology that doesn’t fit the standard definition of male or female? (That’s as many as the population of Russia.) At age 10, Emily Quinn found out she was intersex, and in this wise, funny talk, she shares eye-opening lessons from a life spent navigating society’s thoughtless expectations, doctors who demanded she get unnecessary surgery — and advocating for herself and the incredible variety that humans come in. (Contains mature content)
With a head on their shoulders several light years from a child of a similar age inclusive of XX or XY, how they got there becomes easy to comprehend when you consider what they have been through which is not something most kids of Ori’s age would ever experience. Thankfully Ori’s Mum was totally on board and placed Ori in the driver’s seat from the outset, a result we think you’ll agree has allowed for an exceptionally bright child to reach for the highest stars. We need more Mothers like her and lots more Ori’s if we are to break down stigma perpetuated by doctors and parents some of whom are hell-bent on forcing children to conform to their ideas of what it means to be human.
47 XXY Correlation
Genital anomalies, ranging from female genitalia to milder degrees of undervirilization, are rarely reported in Klinefelter syndrome, in which a male is classically expected to be born with male external genitalia. Though androgen insensitivity syndrome (AIS) is one of the possible pathogenic mechanisms also in Klinefelter syndrome with genital anomalies, to date the AR gene has not been analyzed in any of the published cases of Klinefelter syndrome of the milder phenotype, except for those patients presenting with a severe phenotype, such as female external genitalia. Lack of interest in considering androgen insensitivity in Klinefelter syndrome with a milder phenotype of genital anomalies may impede its identification through an accurate diagnosis. We present a 14-month-old boy with penoscrotal hypospadias, micropenis, and a ventral penile chordee abnormality who was observed to have both a 47,XXY karyotype and a known missense mutation in the AR gene that was inherited from his mother. Although it is recommended that Klinefelter syndrome be considered in the differential diagnosis of penoscrotal abnormalities, mutations in specific genes involved in androgen synthesis or responsiveness should also be investigated.