European academy of andrology guidelines on Klinefelter syndrome endorsing organization: European Society of Endocrinology

M Zitzmann, L Aksglaede, G Corona, AM Isidori… - …, 2021 - Wiley Online Library
Abstract Background Knowledge about Klinefelter syndrome (KS) has increased
substantially since its first description almost 80 years ago. A variety of treatment options …

Genes that escape from X inactivation

JB Berletch, F Yang, J Xu, L Carrel, CM Disteche - Human genetics, 2011 - Springer
To achieve a balanced gene expression dosage between males (XY) and females (XX),
mammals have evolved a compensatory mechanism to randomly inactivate one of the …

Sex differences in psychiatric disorders: what we can learn from sex chromosome aneuploidies

T Green, S Flash, AL Reiss - Neuropsychopharmacology, 2019 - nature.com
The study of sexual dimorphism in psychiatric and neurodevelopmental disorders is
challenging due to the complex interplay of diverse biological, psychological, and social …

Klinefelter syndrome: more than hypogonadism

GA Kanakis, E Nieschlag - Metabolism, 2018 - Elsevier
Klinefelter syndrome (KS) is the most frequent chromosome disorder in males (1: 650
newborn males), defined by 47, XXY karyotype. The classical phenotype is that of a tall male …

Etiologies underlying sex differences in autism spectrum disorders

SM Schaafsma, DW Pfaff - Frontiers in neuroendocrinology, 2014 - Elsevier
The male predominance of Autism Spectrum Disorders (ASD) is one of the best-known, and
at the same time, one of the least understood characteristics of these disorders. In this paper …

X-chromosome inactivation and escape

CM Disteche, JB Berletch - Journal of genetics, 2015 - Springer
X-chromosome inactivation, which was discovered by Mary Lyon in 1961 results in random
silencing of one X chromosome in female mammals. This review is dedicated to Mary Lyon …

Androgens during infancy, childhood, and adolescence: physiology and use in clinical practice

KA Mason, MJ Schoelwer, AD Rogol - Endocrine Reviews, 2020 - academic.oup.com
We provide an in-depth review of the role of androgens in male maturation and
development, from the fetal stage through adolescence into emerging adulthood, and …

A review of neurocognitive functioning and risk for psychopathology in sex chromosome trisomy (47, XXY, 47, XXX, 47, XYY)

S van Rijn - Current opinion in psychiatry, 2019 - journals.lww.com
The research field of SCT is in need of a more longitudinal perspective to identify early
markers of 'at risk'development, and to assess the effectiveness of early interventions …

Androgen treatment effects on motor function, cognition, and behavior in boys with Klinefelter syndrome

JL Ross, H Kushner, K Kowal, M Bardsley, S Davis… - The Journal of …, 2017 - Elsevier
Objectives To examine the effects of early low-dose androgen on motor, cognitive, and
behavioral function in prepubertal boys with Klinefelter syndrome (47, XXY). Study design …

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

S van Rijn, H Swaab - Genes, Brain and Behavior, 2015 - Wiley Online Library
Neuroimaging studies have shown that having an extra X chromosome is associated with
abnormal structure and function of brain areas in the frontal lobe, which is crucially involved …