🟢 “I wish genetic testing at birth was compulsory. Early diagnosis is early intervention. It makes things so much easier.” Stephen Malherbe was 17 when he diagnosed with an extra 47th X chromosome and is the author of ’Living with My X’, a frank and deeply personal account of a man growing up with a common genetic variation. In the second of two episodes, Stephen shares how he became one of the world’s first advocates for Klinefelter’s and key takeaways for individuals and parents living with chromodiversity. The episode ends with a special treat as Stephen answers a surprise, unexpectedly revealing quiz.

🙏 … we have a small favor to ask. Since our charity My XXY | Chromodiversity™ Foundation started the Chromodiversity™ Podcast in July 2022, over 1000 people in 30+ countries have learned more about little known yet common genetic variations in children & adults by listening to our readouts of original research and our lived experience interviews - the result of countless hours of hard work to help raise awareness of health care providers, educators & families and change lives.

An initial endowment made by a Memorial Fund in memory of Elsje Werner-Polak, gassed by the Nazis in 1943 at age 5, combined with contributions from a circle of early adopters in a handful of countries keeps us open to all and independent of any commercial interests. However these funds are limited and we need your help in order to continue our mission.

Unlike many others, our charity has no pharmaceutical industry or other type of 'for profit’ backers. Just the determination and passion to deliver clear, evidence-based information that is always free from commercial influence. Information like this is vital to change lives - and for demanding better for families, children and adults living with chromosomal differences at a time of exploding diagnoses.

We know not everyone is in a position to pay for podcasts. But as a listener funded podcast, we rely on the backing of those who can. When you donate, you’re supporting our mission to change the way the world considers and supports common genetic diversity. Millions more can benefit from quality information about how to prevent adverse outcomes and live better lives.

Show your support by donating to our podcast today. With your help, we will ensure an easy listening experience so you can access engaging and authoritative information, notified to you weekly in your inbox. Thank you.

Support Chromodiversity™️* https://buy.stripe.com/3csg07g8LbaB5X2dQW

*Monthly subscriber donation $4.99 in the currency of your choice

🟢 "You're going to be ok. It's going to be tough. But at the end of this, you're going to come out a much stronger and wiser person." Stephen Malherbe is currently the only known published author in the world with an Extra 47th X chromosome, a common genetic variation also known as Klinefelter's. His book 'Living with My X' is a frank and deeply personal account of a man growing up with chromodiversity. In the first of two episodes, Stephen talks about how he found out about his Extra X at the age of 17, and the sometimes challenging childhood years leading up to this discovery. .

🟢 "I really enjoy the journey... Like a ball going down a pipe, I bounce around a lot. I don't necessarily move it a straight line. And that's a good thing!" Ric Clark was 39 when found out he had an extra 47th Y chromosome. In the second of two episodes he talks about his teen years, adopting his own child as an adult, and shares key takeaways for other parents and individuals faced with chromodiversity.

🟢 "For a long time I believed that everything was my fault. And it crushed me. But it also built my resilience. Because I refused to be crushed." Ric Clark was 39 when found out that he had an extra 47th Y chromosome, a non-hereditary genetic variation that occurs in about 1 in 1000 males but is hardly ever diagnosed. In the first of two episodes, he tells the story about how this discovery affected him, the biggest misconception about people with an extra Y, and what it was like growing up as a child with chromodiversity. A rare peak into what life can be like with this relatively common yet little known chromosomal difference.

🔴 ‘Early Social Behavior in Young Children with Sex Chromosome Trisomies (XXX, XXY, XYY): Profiles of Observed Social Interactions and Social Impairments Associated with Autism Spectrum Disorder (ASD)’.

Listen to one of the first international studies that links extra X&Y chromosomes to increased likelihood of Autism already in 1 to 7 year old children.

By Nienke Bouw, Hanna Swaab, Nicole Tartaglia, Lisa Cordeiro, Sophie van Rijn.

Publication: Journal of Autism and Developmental Disorders, 2022.

You can download the written version of this article including full references and tables on our podcast website chromodiversity.com.

🙏 … we have a small favor to ask. Since our charity My XXY | Chromodiversity™ Foundation started the Chromodiversity™ Podcast in July 2022, over 1000 people in 30+ countries have learned more about little known yet common genetic variations in children & adults by listening to our readouts of original research and our lived experience interviews - the result of countless hours of hard work to help raise awareness of health care providers, educators & families and change lives.

An initial endowment made by a Memorial Fund in memory of Elsje Werner-Polak, gassed by the Nazis in 1943 at age 5, combined with contributions from a circle of early adopters in a handful of countries keeps us open to all and independent of any commercial interests. However these funds are limited and we need your help in order to continue our mission.

Unlike many others, our charity has no pharmaceutical industry or other type of 'for profit’ backers. Just the determination and passion to deliver clear, evidence-based information that is always free from commercial influence. Information like this is vital to change lives - and for demanding better for families, children and adults living with chromosomal differences at a time of exploding diagnoses.

We know not everyone is in a position to pay for podcasts. But as a listener funded podcast, we rely on the backing of those who can. When you donate, you’re supporting our mission to change the way the world considers and supports common genetic diversity. Millions more can benefit from quality information about how to prevent adverse outcomes and live better lives.

Show your support by donating to our podcast today. With your help, we will ensure an easy listening experience so you can access engaging and authoritative information, notified to you weekly in your inbox. Thank you.

Support Chromodiversity™️* https://buy.stripe.com/3csg07g8LbaB5X2dQW

*Monthly subscriber donation $4.99 in the currency of your choice.

🔴 'Early developmental impact of sex chromosome trisomies on attention deficit-hyperactivity disorder symptomology in young children.'

Listen to the first international study that shows signs of ADHD can be detected in 1 in 4 children with an extra X or Y chromosome already from the age of 1 year old onwards.

As a result, the authors call for clinicians to perform early assessment of strengths, weaknesses and needs already in toddlerhood, as well as provide support for parents with frequent follow-ups.

By Kimberly Kuiper, Hanna Swaab, Nicole Tartaglia, Sophie van Rijn

Publication: American Journal of Medical Genetics, 2021

Keywords: #ADHD, #DevelopmentalPsychopathology, #KlinefelterSyndrome, #SexChromosomes, #TrisomyXsyndrome

Original Article (pdf download): see www.chromodiversity.com

🙏 … we have a small favor to ask. Since our charity My XXY | Chromodiversity™ Foundation started the Chromodiversity™ Podcast in July 2022, over 1000 people in 30+ countries have learned more about little known yet common genetic variations in children & adults by listening to our readouts of original research and our lived experience interviews - the result of countless hours of hard work to help raise awareness of health care providers, educators & families and change lives.

An initial endowment made by a Memorial Fund in memory of Elsje Werner-Polak, gassed by the Nazis in 1943 at age 5, combined with contributions from a circle of early adopters in a handful of countries keeps us open to all and independent of any commercial interests. However these funds are limited and we need your help in order to continue our mission.

Unlike many others, our charity has no pharmaceutical industry or other type of 'for profit’ backers. Just the determination and passion to deliver clear, evidence-based information that is always free from commercial influence. Information like this is vital to change lives - and for demanding better for families, children and adults living with chromosomal differences at a time of exploding diagnoses.

We know not everyone is in a position to pay for podcasts. But as a listener funded podcast, we rely on the backing of those who can. When you donate, you’re supporting our mission to change the way the world considers and supports common genetic diversity. Millions more can benefit from quality information about how to prevent adverse outcomes and live better lives.

Show your support by donating to our podcast today. With your help, we will ensure an easy listening experience so you can access engaging and authoritative information, notified to you weekly in your inbox. Thank you.

Support Chromodiversity™️* https://buy.stripe.com/3csg07g8LbaB5X2dQW

*Monthly subscriber donation $4.99 in the currency of your choice.

🟢 Talking with your child about his diagnosis of XXY (Klinefelter) syndrome. Listen to this short guide for suggestions on how and when to tell your child about a common genetic variation like an extra 47th X chromosome. Excellent example of the kind of practical, easy to understand information that is urgently needed as prenatal and neonatal detection of common genetic variations quickly rise.

Sources: Tartaglia, N., Cordeiro, L., Howell, S., Janusz, J. (The spectrum of behavioral phenotype in boys and adolescents 47,XXY. Pediatric Endocrine Rev. 2010); Tartaglia, N., Howell, S., Bornstein, A. (How to talk to your child about his or her diagnosis, presentation at KS&A Families Conference 2008); ACT Government Parentlink. Donor Conception (Telling your child, partenlink.act.gov.au).

© 2013 eXtraordinarY Kids Clinic. Children’s Hospital Colorodo.

Original Article (pdf download): see www.chromodiversity.com

Keywords: #XXY, #KlinefelterSyndrome, #TalkingWithYourChild #ParentConcerns #Genetics #Infertility

🙏 … we have a small favor to ask. Since our charity My XXY | Chromodiversity™ Foundation started the Chromodiversity™ Podcast in July 2022, over 1000 people in 30+ countries have learned more about little known yet common genetic variations in children & adults by listening to our readouts of original research and our lived experience interviews - the result of countless hours of hard work to help raise awareness of health care providers, educators & families and change lives.

An initial endowment made by a Memorial Fund in memory of Elsje Werner-Polak, gassed by the Nazis in 1943 at age 5, combined with contributions from a circle of early adopters in a handful of countries keeps us open to all and independent of any commercial interests. However these funds are limited and we need your help in order to continue our mission.

Unlike many others, our charity has no pharmaceutical industry or other type of 'for profit’ backers. Just the determination and passion to deliver clear, evidence-based information that is always free from commercial influence. Information like this is vital to change lives - and for demanding better for families, children and adults living with chromosomal differences at a time of exploding diagnoses.

We know not everyone is in a position to pay for podcasts. But as a listener funded podcast, we rely on the backing of those who can. When you donate, you’re supporting our mission to change the way the world considers and supports common genetic diversity. Millions more can benefit from quality information about how to prevent adverse outcomes and live better lives.

Show your support by donating to our podcast today. With your help, we will ensure an easy listening experience so you can access engaging and authoritative information, notified to you weekly in your inbox. Thank you.

Support Chromodiversity™️* https://buy.stripe.com/3csg07g8LbaB5X2dQW

*Monthly subscriber donation $4.99 in the currency of your choice.

🟢 ‘I Wish the School Had a Better Understanding of the Diagnosis’: parent perspectives on educational needs of students with sex chromosome aneuploidies. Listen to the first systematic research to provide evidence-based recommendations for educators based on analysis of parent perspectives. The authors call for development of robust family-school partnerships, increased collaboration between the school and the child’s medical team, and recognition of the role that genetic variations play in educational experiences.

Authors: Thalia Thompson, Nicole Stinnett, Nicole Tartaglia, Shanlee Davis, Jennifer Janusz.

Publication: Journal of Research in Special Education Needs © 2022 NASEN. doi: 10.111/1417-3802.12558.

Original Article (pdf download): see www.chromodiversity.com

Keywords: #SexChromosomeAneuploidy, #SpecialEducation, #LearningDisabilities, #FamilySchoolPartnership, #QualitativeMethods

🙏 … we have a small favor to ask. Since our charity My XXY | Chromodiversity™ Foundation started the Chromodiversity™ Podcast in July 2022, over 1000 people in 30+ countries have learned more about little known yet common genetic variations in children & adults by listening to our readouts of original research and our lived experience interviews - the result of countless hours of hard work to help raise awareness of health care providers, educators & families and change lives.

An initial endowment made by a Memorial Fund in memory of Elsje Werner-Polak, gassed by the Nazis in 1943 at age 5, combined with contributions from a circle of early adopters in a handful of countries keeps us open to all and independent of any commercial interests. However these funds are limited and we need your help in order to continue our mission.

Unlike many others, our charity has no pharmaceutical industry or other type of 'for profit’ backers. Just the determination and passion to deliver clear, evidence-based information that is always free from commercial influence. Information like this is vital to change lives - and for demanding better for families, children and adults living with chromosomal differences at a time of exploding diagnoses.

We know not everyone is in a position to pay for podcasts. But as a listener funded podcast, we rely on the backing of those who can. When you donate, you’re supporting our mission to change the way the world considers and supports common genetic diversity. Millions more can benefit from quality information about how to prevent adverse outcomes and live better lives.

Show your support by donating to our podcast today. With your help, we will ensure an easy listening experience so you can access engaging and authoritative information, notified to you weekly in your inbox. Thank you.

Support Chromodiversity™️* https://buy.stripe.com/3csg07g8LbaB5X2dQW

*Monthly subscriber donation $4.99 in the currency of your choice.

⚫️ "Detection and characterization of male sex chromosome abnormalities in the UK Biobank Study"

Based on an exceptionally large sample of genetic and health data including over 200,000 men extracted from the UK Biobank, this 2022 study confirms for the first time what many leading researchers have long suspected: that the “natural history” of the wide range of lifetime health risks of individuals with an extra 47th X chromosome (also called Klinefelter syndrome, KS or 47,XXY) is virtually the same in diagnosed and undiagnosed adults.

The paper also brings new and surprising light to health risks of individuals with an extra 47th Y chromosome (generally referred to as 47,XYY). It shows that - apart from hypogonadism and infertility challenges - 47,XYY adults not only are subject the same full spectrum of all other largely preventable health risks affecting 47,XXY adults, but also at similar and sometimes higher levels. Yet only 1 out of 100 or less individuals with an extra Y are ever diagnosed during their lifetime.

Authors: Yajie Zhao, Eugene J. Gardner, Marcus A. Tuke, Huairen Zhang, Maik Pietzner, Mine Koprulu, Raina Y. Jia, Katherine S. Ruth, Andrew R. Wood, Robin N. Beaumont, Jessica Tyrrell, Samuel E. Jones, Hana Lango Allen, Felix R. Day, Claudia Langenberg, Timothy M. Frayling, Michael N. Weedon, John R.B. Perry, Ken K. Ong, Anna Murray.

Publication: Genetics in Medicine, 2022. doi: https://doi.org/10.1016/j.gim.2022.05.011.

1098-3600/Crown Copyright 2022. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics.

Keywords: #47,XYY #DisordersOfSexualDevelopment #Endocrinology #KlinefelterSyndrome #Thrombosis #Type2Diabetes

🙏 … we have a small favor to ask. Since our charity My XXY | Chromodiversity™ Foundation started the Chromodiversity™ Podcast in July 2022, over 1000 people in 30+ countries have learned more about little known yet common genetic variations in children & adults by listening to our readouts of original research and our lived experience interviews - the result of countless hours of hard work to help raise awareness of health care providers, educators & families and change lives.

An initial endowment made by a Memorial Fund in memory of Elsje Werner-Polak, gassed by the Nazis in 1943 at age 5, combined with contributions from a circle of early adopters in a handful of countries keeps us open to all and independent of any commercial interests. However these funds are limited and we need your help in order to continue our mission.

Unlike many others, our charity has no pharmaceutical industry or other type of 'for profit’ backers. Just the determination and passion to deliver clear, evidence-based information that is always free from commercial influence. Information like this is vital to change lives - and for demanding better for families, children and adults living with chromosomal differences at a time of exploding diagnoses.

We know not everyone is in a position to pay for podcasts. But as a listener funded podcast, we rely on the backing of those who can. When you donate, you’re supporting our mission to change the way the world considers and supports common genetic diversity. Millions more can benefit from quality information about how to prevent adverse outcomes and live better lives.

Show your support by donating to our podcast today. With your help, we will ensure an easy listening experience so you can access engaging and authoritative information, notified to you weekly in your inbox. Thank you.

Support Chromodiversity™️* https://buy.stripe.com/3csg07g8LbaB5X2dQW

*Monthly subscriber donation $4.99 in the currency of your choice.

🔴 Part VII - “Klinefelter Syndrome: Integrating Genetics, Neuropsychology, and Endocrinology.”

Episodes 5 to 11 are dedicated to the most extensive review of research on XXY to date. It presents a comprehensive interdisciplinary examination of KS and highlights the importance of multidisciplinary care lasting the full spectrum of life from early childhood onwards. Episode 11 (Part VII) summarizes 14 recommended steps for treatment and intervention strategies from childhood to puberty & adulthood.

Heads up: apart from hypogonadism and fertility, the 2022 UK Biobank Study featured in Episode 12 will show for the first time that XYY males, although diagnosed in less than than 1 in 100 cases, are largely subject to same lifelong risk profile.

Authors: Claus H. Gravholt, Simon Chang, Mikkel Wallentin, Jens Fedder, Philip Moore and Anne Skakkebæk.

Publication: Endocrine Reviews, 2018. doi: 10.1210/er.2017-00212. Original Article (pdf download) available on chromodiversity.com.

Keywords: #ClinicalCare #Testosterone #Osteoporosis #Obesity #MetabolicSyndrome #Diabetes #Neuropsychology #MultidiscipinaryClinics #NeonatalScreening