Klinefelter syndrome (KS) is the most frequent sex chromosome disorder of the male population, accounting for almost 1 in every 650 newborn males and the most frequent form of male hypogonadism. Although KS was first described seventy-five years ago , many issues still remain to be elucidated regarding the phenotypic variability observed. The initial report included 9 male patients with gynecomastia, sparse facial and body hair, small testes and azoospermia, whereas it was not before 1959 that the presence of a supernumerary X chromosome was described in the karyotype of KS patients . This breakthrough has allowed the detection and subsequent follow-up of KS patients even since intrauterine life, revealing a broad spectrum of corresponding phenotypes.
The study was a European multicentre cross-sectional clinical evaluation in six countries The mean age of participants was 32.1 years The cohort consisted of 325 individuals with Turner Syndrome, 219 individuals with Klinefelter syndrome,females with various XY-DSD conditions 107 with and 67 without virilisation, 87 males with XY-DSD conditions and 221 females with congenital adrenal hyperplasia.
This book is for the siblings of children with special needs, disability or serious illness. It has been written in response to parents saying that there is not enough written information for siblings.
What testosterone does to and for an individual is complex. When people want to know what T does, they usually start with the gender of the person using the T. What does T do for men? For women? This approach tends to assume that people within a given group take T for the same reasons or want the same results. It also assumes that the hormone will have similar effects in bodies within those groups.
This guide reflects the current practice of The National Health Service (NHS) gender clinic services in the United Kingdom (UK). The NHS offers healthcare free at the point of access. The guide describes how and when people with gender dysphoria should be referred; and what people with gender dysphoria can expect in terms of assessment, treatment, care and support from gender clinic services.
This report describes the findings from a study of how adults experience Attention-Deficit/Hyperactivity Disorder (ADHD). Qualitative interviews were carried out with 19 individuals to find out how the condition affected their lives. To date, there is a surprisingly small body of qualitative research on this issue internationally, and very little available from Ireland. Adults ranged from 18 to 53 years of age and were drawn from the Republic of Ireland and Northern Ireland.
If your interest in XXY is only that the second X is insignificant and that you are really an XY Male because you administer exogenous testosterone and by association, it makes you look more masculine, then there’s every possibility this book will not be of interest to you. If on the other hand, you have a keen interest in seeking answers as to what impact the second X might have on your wellbeing or what it is that makes us who we are, then you will most likely find this fascinating.
In 1961, Mary Frances Lyon proposed in Nature that one of the two X chromosomes in every cell of female mammals is inactivated. This, she argued, occurs to prevent XX female cells from expressing twice as many X-linked gene products as XY male cells.
Unlike other pediatric specialties, which usually started as offspring of internal medicine subspecialty development, medical genetics emerged from a basic science only one-half century ago. Scientists and physicians housed in a variety of basic science and clinical departments accomplished many of the major advances in the study of genetic diseases in children. In this article, we trace the development of medical genetics as a scientific and clinical discipline and concentrate on contributions of pediatricians or from departments of pediatrics.
Following is an opinion piece by Dr Michael Nobele XXY who was a champion advocate for XXY’s the world over, especially to those who struggled with making sense of their lives. This documented account was something that resonated with many and allowed them strength and courage to look beyond a doctor’s opinion and instead to charter their own course. As a community, we will always be grateful for such insight and as a tribute, we feel privileged to share it with you
May he rest in peace.
One Voice 47XXY
Klinefelter syndrome (KS) (47, XXY) is the most common sex chromosome disorder, with a prevalence of 1 in every 660 newborn males. Despite the profound adverse effects of anxiety and depression and their greater prevalence in KS populations, no research has been conducted to date to identify the determinants of anxiety and depression among patients with KS. We examined the relationships between personality traits, social engagement, and anxiety and depression symptoms among KS patients (n = 69) and a group of male controls (n = 69) matched for age and years of education.
The chromosome theory of inheritance is a cornerstone of modern genetics. It postulates that chromosomes are the carriers of Mendelian factors (genes) and are the physical basis of heredity. This theory, first proposed in 1903, led to the inseparable union of two previously distinct fields of investigation— cytological observation of chromosomes and genetic analysis of inheritance from breeding experiments. It was vital to subsequent rapid advances in genetics and the eventual understanding of the physical and chemical nature of genes.
This is a joint consensus statement by Australian and Aotearoa/New Zealand intersex organisations and independent advocates, in March 2017. It sets out the priorities and calls by the intersex human rights movement in our countries, under six headings: a preamble, human rights and legal reform; health and wellbeing; peer support; allies; and education, awareness and employment.
KS males present certain shared phenotypes such as small testes, tall stature, narrow shoulders, broad hips, sparse body hair, gynecomastia and decreased verbal intelligence. KS males also have increased risk of a wide range of additional disorders compared to the background population, i.e. comorbidities. Testicular dysfunction is prevalent in KS. It is estimated that KS causes 1–3% of all male infertility cases (5).
David Iris Cameron Strachan is a retired intersex advocate whose life experience living with XXY has helped him educate others about body type variations and difference. He has written papers and given lectures as “David Cameron” and served on the San Francisco Human Rights Commission’s LGBT Advisory Committee, 2003-2006, being the founding member of their Intersex Task Force. Strachan also served on the San Francisco Transgender Civil Rights Implementation Task Force.
The KS Story has been compiled by a person with Klinefelter’s Syndrome (47,XXY), from reputable medical, research and support group sources, and with the help and support of several UK and international scientists in the fields of biology, cytogenetics, endocrinology, neuroscience and sexology. To balance the overwhelming amount of data there is a degree of comic relief in the writing, with a sprinkling of cartoons. All that is asked, is that you please put aside any preconceived ideas or stereotypes and view the guide with a respectful and open mind.
We consider this an excellent resource by Virginia Isaacs Cover MSW and we are especially grateful for her taking the time out from life to write it. This is the nitty-gritty of Sex Chromosome Variations filled to the rafters with information and experiences less spoken of. Certainly a book you’ll find difficult not to finish in one sitting.