Presentaion AXYS Conference 2018 – NDIS Information Session Q & A. By Kevin

Presentation

AXYS 2018 conference presentation by the NDIS co-ordinator at the RCH. The presentation covered and overview of what the NDIS is and fielded many questions from our members.

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Presentation AXYS Conference 2018 – Our Progression into the Future. By Anita AXYS Leadership Team

Presentation

AXYS 2018 conference presentation by Anita one of the AXYS leadership team members discussing where AXYS and come from and how we are moving forward into the future of reading our goals to; support, inform and empower those living with or are associated with X & Y Chromosome variants.

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Presentation AXYS Conference 2018 – Endocrine Care of Men with Klinefelter Syndrome. By Dr Stella Sarlos

Presentation

AXYS 2018 conference presentation by an Endocrinologist on the different types of testosterone available in Australia and who they work.

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Presentation AXYS Conference 2018 – Mental Health Awareness Anxiety and Depression. By Harpreet Deol and Aileen Luna Provisional Psychologists Melbourne Affordable Psychology

Presentation

AXYS conference 2018 presentation on anxiety and depression and increasing awareness and the importance of looking after yours and your child’s mental health and wellbeing.

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Suggested books to help children with anxiety

Blog

This is a list of suggested books that can help children grapple with anxiety and emotional challenges.

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Suggested booklist for reading to the prep/foundation years

Blog

Reading to children is vital and should be a big part of a child’s life. Here is some suggested books that should be ready to the child in prep or foundation.

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XXXXY Syndrome: An information booklet developed by Unique.

Book

Unique are an organisation which support and promote the understanding of rare chromosome and gene disorders. They have developed this booklet on XXXXY.

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XXXY Syndrome: A booklet developed by Unique

Book

Unique are an organisation which support and promote the understanding of rare chromosome and gene disorders. They have developed this booklet on XXXY.

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Phenotypic differences in mosaic Klinefelter patients as compared with non-mosaic patients

Research Paper

A research study exploring if individuals with mosaic Klinefelter syndrome have the same phenotype as individuals with non-mosaic Klinefelter syndrome

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Chromosome variants in Klinefelter Syndrome

Research Paper

A study exploring the different variants and phenotypes of Klinefelter syndrome.

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Presentation AXYS conference 2018 – The way forward for fertility options for men with Klinefelter Syndrome. By Dr Hossam Elzeiny

Presentation

AXYS conference 2018, a fantastic presentation discussing the fertility treatment options available for males with Klinefelter Syndrome.

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Presentation AXYS conference 2018 – Intergrating play and therapy into everyday life. By Sarah Munn

Presentation

AXYS 2018 conference presentation by an occupational therapist talking about how therapy should be play based and can be integrated into several aspects of everyday life.

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Presentation AXYS Conference 2018 – How can children thrive in the Primary School Setting. By Chloe Umbers

Presentation

AXYS annual conference 2018 presentation from a primary school teacher discussing how we can ensure all children have the opportunity to learn and thrive and how the primary school setting can be adapted to each child.

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Learning support of children with Klinefelter Syndrome/XXY without disclosing a diagnosis

Info Sheet

Some parents may choose not to disclose their child’s diagnosis. It is very helpful from a educator and teachers perspective to know what challenges a child faces to ensure they are supported in the best possible way from pre-school and throughout primary school.    

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Submission to the Australian Human Rights Commission

Submission

Protecting the human rights of people born with variations in sex characteristics in the context of medical interventions.

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Klinefelter Syndrome/XXY Myth Busters Information Sheet

Info Sheet

There are many misconceived ideas and information about Klinefelter Syndrome/XXY, this myth busters information sheet is designed to answer and dispel some of the myths.

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Klinefelter Syndrome/XXY Prenatal Diagnosis Information Sheet

Info Sheet

An information sheet for expectant parents or individuals with a prenatal diagnosis of Klinefelter Syndrome/XXY

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Social Behavior and Autism Traits in a Sex Chromosomal Disorder: Klinefelter (47XXY) Syndrome

Article

Autism spectrum pathology in Klinefelter syndrome in a larger and more representative sample in epidemiological terms. In the XXY group, levels of autism traits were significantly higher across all dimensions of the autism phenotype.

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Taurodontism and Klinefelter syndrome: case report and review of the literature

Article

Taurodontism is an isolated anomaly and is detectable before puberty. It can be associated with several syndromes and anomalies like Klinefelter Syndrome and trisomy21 or Down syndrome.
Taurodontic teeth could be a clinical sign of this syndrome and the pediatric dentist should refer for chromosome analysis.

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Taurodontism in Pediatric Population: A Review

Article

Taurodontism is a rare dental anomaly in which the affected tooth has an enlarged and elongated body and pulp chamber with apical displacement of the pulpal floor.

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47,XYY Syndrome: Clinical Phenotype and Timing of Ascertainment

Research Paper

Objective:- To describe auxologic, physical, and behavioral features in a large cohort of males with 47,XYY (XYY), ages newborn to young adult.

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The Impact of Living with Klinefelter Syndrome: A Qualitative Exploration of Adolescents and Adults

Research Paper

The purpose of this study was to understand the impact of living with XXY as an adolescent or an adult. Individuals sought support coping with the challenges they face and acknowledgement of the positive aspects of XXY. Recommendations are made for how genetic counseling can enhance quality of life for individuals living with XXY.

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Bone Age Assessment of Children using a Digital Hand Atlas

Article

Bone age assessment (BAA) is a common radiological examination used in pediatrics to determine any discrepancy between a child’s skeletal age (the developmental age of their bones) and their chronological age (in years, taken from birth date).

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Some Myths about ADHD

Article

ADHD is a hereditary condition and has been recognised since the early 1900s. In the past it was known by other names such as minimal brain dysfunction and hyperactivity disorder.

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Treating Adult ADHD

Info Sheet

While many people consider ADHD to be a childhood disorder, ADHD is a complex lifelong neurobiological condition. ADDults with ADHD is a NSW organisation that can offer a lot of support to adults with an ADHD diagnoses.

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About Adult ADHD

Info Sheet

Attention Deficit Hyperactivity Disorder (ADHD) is a manageable condition that affects approximately 5% of the world’s population. ADDults with ADHD is a NSW organisation that offers a lot of great information and support for adults with a diagnoses of ADHD.

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Handbook of Genetic Counseling/Klinefelter Syndrome

Article

A simple overview of Klinefelter syndrome and variants

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Klinefelter Syndrome in Childhood: Variability in Clinical and Molecular Findings

Research Paper

Klinefelter Syndrome is the most common sex chromosome aneuploidy in live male births, but less than 10% of cases are identified before puberty. Early diagnosis is essential to address age-specific challenges with timely treatment and rehabilitation to minimize the problems that patients with XXY face with and to mitigate some of the complications seen in late diagnosed cases.

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Vocal and gestural productions of 24-month-old children with sex chromosome trisomies

Research Paper

Children with sex chromosome trisomies (SCT) frequently show problems in language development. The study showed the importance of early detection of language risk factors in children with SCT, while also considering the use of compensatory strategies (e.g., the use of communicative gestures).

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A new look at XXYY syndrome: medical and psychological features.

Research Paper

Although the physical phenotype is similar to 47,XXY (tall stature, hypergonadotropic hypogonadism, and infertility), XXYY is associated with additional medical problems and more significant neurodevelopmental and psychological features.

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Tremor and Klinefelter’s Syndrome

Article

Klinefelter syndrome (KS) has been associated with tremor, but reports on tremor phenomenology and treatment are limited.

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Autism Spectrum Disorder in Males with Sex Chromosome Aneuploidy: XXY/Klinefelter syndrome, XYY, and XXYY

Research Paper

Neurodevelopmental concerns in males with sex chromosome aneuploidy (SCA) (XXY/Klinefelter syndrome, XYY, and XXYY) include many symptoms seen in autism spectrum disorder (ASD), such as speech-language impairment, verbal cognitive deficits, and social difficulties.

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Pediatric Evaluation and Treatment Recommendations for XXY/Klinefelter syndrome

Info Sheet

A guide for assessment and treatment follow-up from birth

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A Characteristic Cognitive and Behavioral Pattern as a Clue to Suspect Klinefelter Syndrome in Prepubertal Age

Research Paper

A common, often underappreciated element in young boys and children with Klinefelter syndrome is the characteristic cognitive and behavioral patterns that could lead to an earlier diagnoses.

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The Social Behavioral Phenotype in Boys and Girls with an Extra X Chromosome (Klinefelter Syndrome and Trisomy X): A Comparison with Autism Spectrum Disorder

Research Paper

The present study aimed to gain more insight in the social behavioral phenotype, and related autistic symptomatology, of children with an extra X chromosome in comparison to children with ASD.

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Social Function in Multiple X and Y Chromosome Disorders: XXY, XYY, XXYY, XXXY

Article

Studies on males with 47,XXY have revealed unique behavioral and social profiles with possible vulnerability to autistic traits. The prevalence of males with more than one extra sex chromosome (e.g., 48,XXYY and 48,XXXY) and an additional Y (e.g., 47,XYY) is less common, but it is important to understand their social functioning as it provides insight into treatment implications.

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48,XXYY, 48,XXXY and 49,XXXXY syndromes: not just variants of Klinefelter syndrome

Article

The more complex physical, medical and psychological phenotypes of 48,XXYY, 48,XXXY and 49,XXXXY syndromes make distinction from 47,XXY important.

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Advances in the interdisciplinary care of children with Klinefelter syndrome

Article

Klinefelter syndrome (KS) is a common genetic disorder characterized by an additional X chromosome in males leading to a karyotype of 47,XXY. In this review, we will provide the pediatrician with an update on what is known about the clinical manifestations and current treatment recommendations for boys and men with KS.

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Tremor in 48,XXYY Syndrome

Research Paper

Tremor has been previously reported in 47,XXY and 47,XYY syndromes, but has not been well described in 48,XXYY syndrome. Tremor is a common finding in children and young adults with 48,XXYY syndrome.

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A Pediatric Quantitative Brain Magnetic Resonance Imaging Case-Control Study

Research Paper

The objective of this study was to examine possible neuroana- tomical substrates of these cognitive and behavioral features during childhood and adolescence.

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The psychosocial impact of Klinefelter syndrome and factors influencing quality of life

Research Paper

This study investigates the personal impact of Klinefelter syndrome and the influence of age at diagnosis, clinical, social, and demographic factors on adult quality of life outcomes.

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Thinking outside the square: considering gender in Klinefelter syndrome and 47, XXY

Article

Letter to the editor: International Journal of Andrology

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Clinical research: Extra X impairs awareness of others’ minds

Article

Girls and boys born with an extra X chromosome both tend to have difficulties understanding the minds of others, but for different reasons than children with autism do.

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Osteoporosis & KS

Article

The document provides an overview of Osteoporosis and its importance with KS.

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Klinefelter’s syndrome and psychoneurologic function

Research Paper

The aim of this work is to present a review of current literature about neurogenetic functions in KS, referring to both clinical and therapeutics aspects.

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Klinefelter Syndrome—A Clinical Update

Article

We review aspects of epidemiology, endocrinology, metabolism, body composi- tion, and neuropsychology with reference to recent genetic discoveries.

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The psychological and social impact of Klinefelter’s Syndrome

Article

In collaboration with the Klinefelter’s Syndrome Association (KSA) we agreed to plan and deliver an impact study.

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Strategies and advantages of early diagnosis in Klinefelter’s syndrome

Research Paper

This paper aims to review the possible signs of KS at different stages of life that could help achieve an early (or at least earlier) diagnosis.

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The prevalence and diagnosis rates of Klinefelter syndrome: an Australian comparison

Research Paper

To determine the prevalence and diagnosis rates of Klinefelter syndrome (KS) in Victoria, Australia, and compare these to previous international findings.

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Postnatal screening for Klinefelter syndrome: is there a rationale?

Research Paper

We examine current evidence regarding risks and benefits of diagnosing KS at different ages.

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The role of hypogonadism in Klinefelter Syndrome

Research Paper

Despite being the most common sex chromosomal disorder Klinefelter syndrome remains highly under‐diagnosed because of substantial variation in the clinical presentation.

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The learning needs of boys with Klinfelter Syndrome/XXY

Info Sheet

These notes are intended for teachers and classroom assistants of boys who have a previous diagnosis of Klinefelter’s Syndrome

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A neuroscience researcher reveals 4 rituals that will make you a happier person

Article

UCLA neuroscience researcher Alex Korb has some insights that can create an upward spiral of happiness in your life.

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Automated morphometric study of brain variation in XXY males

Research Paper

This paper studies brain morphometry variation associated with XXY males (Klinefelter’s syndrome) by using an automated whole-brain volumetric analysis method.

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The social brain in psychiatric and neurological disorders

Article

Psychiatric and neurological disorders have historically provided key insights into the structure-function relationships that subserve human social cognition and behavior, informing the concept of the ‘social brain’.

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Klinefelter’s syndrome and psychoneurologic function

Research Paper

The aim of this work is to present a review of current literature about neurogenetic functions in KS, referring to both clinical and therapeutics aspects.

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Klinefelter Syndrome The Commonest Form of Hypogonadism, but Often Overlooked or Untreated

Article

Until now, only about one-quarter of all persons with KS received the diagnosis during their lifetimes.

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Considerations for Androgen Therapy in Children and Adolescents with Klinefelter Syndrome

Research Paper

The goals of androgen therapy for adolescents with hypogonadism are to promote linear growth and secondary sexual characteristics, and to permit the normal accrual of muscle mass, bone mineral content, and the adult regional distribution of body fat.

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The Social Behavioral Phenotype in Boys and Girls with an Extra X Chromosome

Research Paper

The study aimed to gain more insight in the social behavioral phenotype, and related autistic symptomatology, of children with an extra X chromosome in comparison to children with ASD.

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Follow-up 20 years later of 34 Klinefelter males with karyotype 47,XXY

Research Paper

A 20-year follow-up study of 50 hypogonadal males has been made. These males have been examined at mean ages of 27 and 37 and in the present study at a mean age of 47.

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High normal testosterone levels in infants with non-mosaic Klinefelter’s syndrome

Research Paper

Klinefelter’s syndrome (KS) is associated with hypergonadotrophic hypogonadism in adulthood. However, limited information exists about the age at which hypogonadism occurs.

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You’ve got male: The wide-ranging effects of testosterone

Article

Endocrinologist and hormone researcher Prof Jeffrey Zajac talks about the broad and transformative effects of testosterone on the male body.

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Talking with your child about his diagnosis of XXY (Klinefelter) syndrome

Info Sheet

Many parents wonder how and when they should tell their son about his diagnosis of XXY syndrome, also commonly called Klinefelter syndrome. This guide offers some suggestions for talking with your son about XXY.

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Along the Autism Spectrum, a Path Through Campus Life

Article

For decades, universities have provided academic safety nets, but students on the autism spectrum need a web of support that is far more nuanced and complex.

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Neuropsychology and socioeconomic aspects of Klinefelter syndrome: new developments

Research Paper

Purpose of review is to summarize recent important studies on neuropsychology and epidemiology of Klinefelter syndrome.

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Kyle and his Extra X and Y

Book

This is a children’s book for kids with 48, XXYY. This book helps children and adolescents with XXYY understand their condition. Boys with XXYY will identify with and learn from Kyle as they read this book.

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Elizabeth and her Extra X

Book

Elizabeth and her Extra X is a children’s book for kids with Triple X or Trisomy X syndrome (47, XXX). This book helps children and adolescents with Triple X understand their condition. Girls with Triple X will identify with and learn from Elizabeth as they read this book.

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Jack and his extra Y

Book

This book helps children and adolescents with XYY understand their condition. Though Jack’s condition presents him with many challenges throughout the story, he is able to work through each challenge in his own way. Boys with XYY will identify with and learn from Jack as they read this book.

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Gregory and His Extra X (XXY)

Book

The story explores the genetics of XXY and addresses social, academic and medical aspects of this condition in an age-appropriate, fun way. Boys with XXY will identify with and learn from Gregory as they read this book.

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Living with Klinefelter Syndrome (47XXY), Trisomy X and 47 XYY

Book

A Guide for Families and Individuals Affected by Extra X and Y Chromosomes.

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The Klinefelter syndrome: current management and research challenges

Research Paper

Klinefelter syndrome and centers of competence, counselling, support groups, early screening,

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Advances in the Interdisciplinary Care of Children with Klinefelter Syndrome

Research Paper

In this review, we will provide the pediatrician with an update on what is known about the clinical manifestations and current treatment recommendations for boys and men with KS.

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The Cognitive and Behavioral Profile of 47,XXX (Trisomy X): A Research Approach

Video

By Dr. Sophie Van Rijn

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Executive dysfunction and the relation with behavioral problems in children with 47,XXY and 47,XXX

Research Paper

There is little of knowledge of the type and severity of executive dysfunction, and the impact on emotional and behavioral problems. The present study aims to provide in this.

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Social deficits in male children and adolescents with sex chromosome aneuploidy

Research Paper

A comparison of XXY, XYY, and XXYY syndromes

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Positive Effects of Early Androgen Therapy on the Behavioral Phenotype of Boys with 47,XXY

Research Paper

The objective of this follow-up study was to examine the effects of EHT on social behavior in boys with 47, XXY.

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My NDIS Pathway

Info Sheet

This booklet will help you understand the path you will travel as the NDIS works with you.
It will provide an overview of what to expect at each stage.

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Carer Checklist – NDIS

Workbook

to prepare for the national disability insurance scheme assessment & planning meetings

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Klinefelter syndrome – integrating genetics, neuropsychology and endocrinology

Research Paper

Although first identified over 70 years ago, Klinefelter syndrome (KS) continue to pose significant diagnostic challenges, as many patients are still misdiagnosed, or remain undiagnosed.

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NDIS Planning Tool – Children’s Services

Workbook

This is an adapted tool from the NDIS planning workbook to reflect the needs of children aged between 0-12 years

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Klinefelter syndrome and fertility: sperm preservation should not be offered to children with Klinefelter syndrome

Research Paper

Current evidence shows that fertility preservation should not be offered to adolescents with KS younger than 16 years because of lower retrieval rates for germ cells by testicular sperm extraction (TESE) compared with retrieval rates for adolescents and adults between 16 and 30 years.

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Sperm recovery and ICSI outcomes in Klinefelter syndrome: a systematic review and meta-analysis

Research Paper

The aim of this review was to meta-analyse the currently available data from subjects with KS regard- ing SRRs as the primary outcome. In addition, when available, PRs and live birth rates (LBRs) after the ICSI technique were also investigated as secondary outcomes.

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Testosterone Therapy in Men With Hypogonadism: An Endocrine Society* Clinical Practice Guideline

Research Paper

Objective: To update the “Testosterone Therapy in Men With Androgen Deficiency Syndromes” guideline published in 2010.

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Neuroanatomical correlates of Klinefelter syndrome studied in relation to the neuropsychological profile

Research Paper

Brain imaging in Klinefelter syndrome (47, XXY) (KS) may contribute to understanding the relationship between gene expression, brain struc- ture, and subsequent cognitive disabilities and psychiatric disorders.

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The nature of social cognitive deficits in children and adults with Klinefelter syndrome

Research Paper

The understanding of neurocognitive mechanisms driving social dysfunction is a major area of research in the field of autism spectrum disorders (ASD), a behaviorally defined psychiatric condition.

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