Helpline: 1‑267‑338‑4262 | info@genetic.org
AXYS - The Association for X&Y Chromosome Variations
Helpline: 1‑267‑338‑4262 | info@genetic.org

Testosterone treatment

BMJ Best Practice – Klinefelter Syndrome

Article Title: BMJ Best Practice Klinefelter Syndrome

Authors: Alan Rogol, Gary Butler, and Claus Gravholt

Date of Publication: June 4, 2024

“Population mortality and morbidity studies suggest there is a slight but not significant lowering of life expectancy in individuals with Klinefelter syndrome (KS). The average lifespan has been found to be reduced by 1.5 to 2 years, with morbidity and mortality increased due to a wide number of conditions, including diabetes, cerebrovascular disease, and breast cancer. Higher rates of osteoporosis and fractures are also important to note.

Appropriate treatment with testosterone can alleviate the portion of excess risk that is due to conditions associated with hypergonadotropic hypogonadism, but some of the elevated risk is likely intrinsic to the chromosome aberration and therefore not corrected by testosterone treatment.

The increased morbidity and mortality in individuals with KS may also be partially explained by their often lower socioeconomic status, with cohort data suggesting shorter education, higher rates of unemployment, lower average incomes, and earlier average age at retirement compared with men without KS.

It is important to note that most boys and men with KS are never diagnosed so the reported data likely reflects more severe phenotypes of the condition.”

Read more

Supernumerary sex chromosome abnormalities – new developments and future trajectories

Article Title: Supernumerary sex chromosome abnormalities – new developments and future trajectories – A summary of the 2022 3rd International Workshop on Klinefelter syndrome, XYY and Trisomy X

Authors: Gravholt, Ferlin, Gromoll, Juul, Raznahan, Van Rijn, Rogol, Skakkebæk, Tartaglia, and Swaab

Date of Publication: January 4, 2023

“The 3rd International Workshop on Klinefelter Syndrome, Trisomy X, and 47,XYY syndrome was held in Leiden, the Netherlands, on September 12-14, 2022. Here, we review new data presented at the workshop and discuss scientific and clinical trajectories. We focus on shortcomings in knowledge and therefore point out future areas for research.”

Read more

Quality of life in Klinefelter patients on testosterone replacement therapy

Article Title: Quality of life in Klinefelter patients on testosterone replacement therapy compared to healthy controls: an observational study on the impact of psychological distress, personality traits, and coping strategies

Authors: Fabrazzo, Accardo, Abbondandolo, Goglia, Esposito, Sampogna, Catapano, Giugliano, and Pasquali

Date of Publication: August 31, 2020

“We aimed to verify if 1 year-testosterone-replacement therapy could produce a psychopathological recovery and a satisfactory quality of life in Klinefelter syndrome (KS) patients compared to matched healthy controls. Further, we analyzed personality traits and coping strategies, an issue not yet examined in androgen-treated KS patients. We also enquired whether any of the sociodemographic and psychological variables might predict a patient’s general and sexual life satisfaction.”

Read more

2022-02-25T13:27:52-05:00Categories: 47,XXY (Klinefelter)|Tags: |

Incidence of gynaecomastia in Klinefelter syndrome adolescents and outcome of testosterone treatment

Article title: Incidence of gynaecomastia in Klinefelter syndrome adolescents and outcome of testosterone treatment

Author: Butler

Date of Publication: April 2021

“The incidence of gynaecomastia in KS boys (overall 35.6%) is not increased over typically developing boys. Commencing testosterone when gynaecomastia develops with physiological dose escalation and full adherence can result in the resolution of the gynaecomastia.”

Read more

2022-02-16T12:47:54-05:00Categories: 47,XXY (Klinefelter)|Tags: |

Morbidity in Klinefelter syndrome and the effect of testosterone treatment

Article Title: Morbidity in Klinefelter syndrome and the effect of testosterone treatment

Authors: Chang, Skakkebæk, Davis, and Gravholt

Date of Publication: April 28, 2020

“…KS is associated with an array of health-related and socioeconomic challenges and it is becoming progressively clear that proper care for boys and men with KS reaches far beyond simply supplementing with testosterone. There are no widely implemented guidelines for KS care, and studies investigating crucial aspects of testosterone treatment in individuals with KS, including both beneficial and potentially adverse effects, have only begun to emerge during the last decades. For this descriptive review, we present an overview of literature describing health-related outcomes of testosterone treatment in KS and outline the clinical applications of testosterone treatment in KS. Collectively, beneficial effects of testosterone treatment on overall health in KS are described with few apparent adverse effects. However, larger randomized studies in adult and pediatric patients are warranted to elucidate key aspects of treatment. We stress the implementation of centralized multidisciplinary clinics and the need for a dedicated international guideline to ensure optimal care of boys and men with KS.”

Read more

2020-06-09T14:38:29-04:00Categories: 47,XXY (Klinefelter)|Tags: |

Klinefelter syndrome and testosterone treatment: a national cohort study on thrombosis risk

Article Title: Klinefelter syndrome and testosterone treatment: a national cohort study on thrombosis risk

Authors: Gravholt, Chang, Christiansen, Bojesen, Juul, Münster

Date of Publication: December 11, 2019

“Klinefelter syndrome (KS), 47,XXY, can be viewed as a disease model for investigating the risk of thrombosis in male hypogonadism and the subsequent risk related to testosterone treatment. We describe rates of thrombotic risk factors, thrombosis and thrombosis mortality in KS and the association with testosterone treatment.”

Read more

2022-02-16T12:46:56-05:00Categories: 47,XXY (Klinefelter)|Tags: |

Testosterone treatment and association with thrombin generation and coagulation inhibition in KS

Article Title: Testosterone treatment and association with thrombin generation and coagulation inhibition in Klinefelter syndrome: A cross-sectional study

Authors: Claus H. Gravholt, MD, PhD et al

Date of Publication: August 19, 2019

“In this cross-sectional study thrombin generation in men with KS was inversely associated with testosterone and androgen action. T-KS [testosterone treated Klinefelter syndrome] expressed a less pro-coagulant thrombin generation profile compared with U-KS [untreated Klinefelter syndrome]. Whether testosterone treatment in KS affects thrombosis risk in KS needs to be evaluated from longitudinal studies.”

Read more

2022-02-16T12:46:27-05:00Categories: 47,XXY (Klinefelter)|Tags: |

A placebo-controlled randomized study with testosterone in Klinefelter Syndrome

Article Title: A placebo-controlled randomized study with testosterone in Klinefelter syndrome: beneficial effects on body composition

Authors: Claus H. Gravholt, MD, PhD et al

Date of Publication: August 7, 2019

“Testosterone treatment in adult males with KS for 6 months leads to favorable changes in body composition with reductions in fat mass, including abdominal fat mass, but does not change measures of glucose homeostasis.”

Read more

2022-02-16T12:45:51-05:00Categories: 47,XXY (Klinefelter)|Tags: |

Oxandrolone Treatment Results in Increased Risk of Gonadarche in Prepubertal Boys With KS (early testosterone use)

Article Title: Oxandrolone Treatment Results in an Increased Risk of Gonadarche in Prepubertal Boys With Klinefelter Syndrome

Authors: Shanlee M. Davis, Najiba Lahlou, Matthew Cox-Martin, Karen Kowal, Philip S. Zeitler, and Judith L. Ross

Date of Publication: June 20, 2018

“Two years of Ox[androlone] treatment in prepubertal boys with KS results in an increased risk of early gonadarche, on average 2 years earlier than in [placebo]-treated boys. Ox did not affect serum concentrations of testicular hormones.”

Read more

Testosterone Early Use Research Study – Tartaglia, 2018

Article Title: Testosterone in Infants with XXY

Authors: Nicole Tartaglia, Shideh Majidi, and Shanlee Davis

Date of Publication: 2018

“This study aims to address the question of whether exogenous testosterone during the expected mini-puberty period of infancy in boys with KS has beneficial short-term effects on body composition and development.”

Read more

Go to Top