Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

CH Gravholt, NH Andersen, GS Conway… - European journal of …, 2017 - academic.oup.com
Abstract Turner syndrome affects 25–50 per 100,000 females and can involve multiple
organs through all stages of life, necessitating multidisciplinary approach to care. Previous …

The changing face of Turner syndrome

CH Gravholt, M Viuff, J Just, K Sandahl… - Endocrine …, 2023 - academic.oup.com
Turner syndrome (TS) is a condition in females missing the second sex chromosome (45, X)
or parts thereof. It is considered a rare genetic condition and is associated with a wide range …

Turner syndrome: mechanisms and management

CH Gravholt, MH Viuff, S Brun, K Stochholm… - Nature Reviews …, 2019 - nature.com
Turner syndrome is a rare condition in women that is associated with either complete or
partial loss of one X chromosome, often in mosaic karyotypes. Turner syndrome is …

Genome-wide sex and gender differences in cancer

CM Lopes-Ramos, J Quackenbush… - Frontiers in oncology, 2020 - frontiersin.org
Despite their known importance in clinical medicine, differences based on sex and gender
are among the least studied factors affecting cancer susceptibility, progression, survival, and …

Klinefelter syndrome: integrating genetics, neuropsychology, and endocrinology

CH Gravholt, S Chang, M Wallentin, J Fedder… - Endocrine …, 2018 - academic.oup.com
Although first identified over 70 years ago, Klinefelter syndrome (KS) continues to pose
substantial diagnostic challenges, as many patients are still misdiagnosed, or remain …

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 …

Epigenetic developmental mechanisms underlying sex differences in cancer

JB Rubin, T Abou-Antoun, JE Ippolito, L Llaci… - The Journal of clinical …, 2024 - jci.org
Cancer risk is modulated by hereditary and somatic mutations, exposures, age, sex, and
gender. The mechanisms by which sex and gender work alone and in combination with …

The epidemiology of sex chromosome abnormalities

A Berglund, K Stochholm… - American Journal of …, 2020 - Wiley Online Library
Sex chromosome abnormalities (SCAs) are characterized by gain or loss of entire sex
chromosomes or parts of sex chromosomes with the best‐known syndromes being Turner …

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 …

X chromosome protects against bladder cancer in females via a KDM6A-dependent epigenetic mechanism

S Kaneko, X Li - Science advances, 2018 - science.org
Men are much more likely than women to develop bladder cancer (BCa), but the underlying
cause of this gender disparity remains poorly defined. Using sex-reversed mice, we show …