Clinical trials: Klinefelter Syndrome
Sex Chromosome Disorders
Clinical and Genetic Aspects in Fetuses and Children With Sex Chromosome Disorders
The aim of the project is to: 1. Investigate organ development and growth in fetuses with sex chromosome disorders; 2. Investigate growth, development, and morbidity in children with sex chromosome disorders during the first…
- Trial name
- NCT07341412
- Where
- Denmark
- Volunteers
- 300 people
- Sponsor
- University of Aarhus
Steroidogenesis, Klinefelter Syndrome
Human Chorionic Gonadotropin Stimulation Effects on Steroidogenesis in Men With Klinefelter Syndrome
The study design included six visits. During the first visit (visit 0), the subjects underwent physical examination(height, weight, body mass index (BMI), arm span, and upper segment measurement) and testicular ultrasound (US)…
- Conditions
- Steroidogenesis, Klinefelter Syndrome, Human Chorionic Gonadotropin (hCG) Stimulation
- Trial name
- NCT02788136
- Testing
- human chorionic gonadotropin
- Where
- Italy
- Volunteers
- 25 people, healthy volunteers welcome
- Sponsor
- Azienda USL Modena
Klinefelter Syndrome, Hypogonadism
Epigenetics and Metabolic Disorders in Men With the Klinefelter Syndrome
This study will elucidate how the parental origin of the X-chromosome influences health status as well as metabolic fate in Klinefelter patients.
- Trial name
- IZKF-CRA03-09 (NCT01703676)
- Volunteers
- 300 people, healthy volunteers welcome
- Sponsor
- University Hospital Muenster
Klinefelter Syndrome
Fertility Assessment in Patients With Klinefelter Syndrome
Klinefelter syndrome is characterized by primary testicular failure and progressive infertility. The objective of this study is to determine if sperm are present and can be observed in semen samples of adolescent and young adult…
- Trial name
- NCT02461303
- Testing
- Counseling
- Where
- 2 sites in United States
- Volunteers
- 6 people
- Sponsor
- University of Pittsburgh
Klinefelter Syndrome, Quality of Life
Life Quality and Health in Patients With Klinefelter Syndrome
Klinefelter syndrome is the most common sex-chromosome disorder in men with a prevalence of 1 in 660 men. The syndrome is associated with hypogonadism.
- Conditions
- Klinefelter Syndrome, Quality of Life, Physical Disorders, Mental Disorders
- Trial name
- NCT01690013
- Where
- Denmark
- Volunteers
- 452 people
- Sponsor
- University of Aarhus
Sex Chromosome Abnormality, Klinefelter Syndrome
Endocrine, Metabolic, Cardiovascular and Immunological Aspects of Sex Chromosome Abnormalities in Relation to Genotype
Observational study of 160 patients with sex-chromosome abnormalities and 160 matched controls. Blood, fat, muscle, skin, buccal swaps, urine will be collected and analyzed for DNA, RNA and methylation patterns.
- Conditions
- Sex Chromosome Abnormality, Klinefelter Syndrome, Turner Syndrome, Metabolic Disease
- Trial name
- EMKISCA (NCT05425953)
- Testing
- No intervention other than obtaining biopsies
- Where
- Denmark
- Volunteers
- 320 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Klinefelter Syndrome
Fertility Preservation in Cases of Klinefelter Syndrome.
Klinefelter Syndrome (KS) is the most common sex chromosomal abnormalities (1/600 newborn males), and is characterized by a hypergonadism hypogonadism.
- Trial name
- FERTIPRESERVE (NCT01918280)
- Testing
- Seminal analyses and testicular biopsy
- Where
- 4 sites in France
- Volunteers
- 141 people
- Sponsor
- Hospices Civils de Lyon
Male Infertility, Klinefelter's Syndrome
RA-2 13-cis Retinoic Acid (Isotretinoin)
Men with infertility and normal hormone levels have few options for fertility treatment. Previous research work has suggested that men with infertility may have low levels of the active form of Vitamin A, called retinoic acid, in…
- Conditions
- Male Infertility, Klinefelter's Syndrome, Y-chromosome Microdeletions
- Trial name
- RA-2 (NCT02061384)
- Testing
- 13-cis retinoic acid, Calcitriol
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- University of Washington
Klinefelter Syndrome, Thyroiditis, Autoimmune
Thyroid Function and Structure in Klinefelter Syndrome
This is a longitudinal retrospective study for the evaluation of thyroid function and structure in patients with Klinefelter syndrome compared to healthy controls and patients affected by chronic lymphocytic thyroiditis.
- Conditions
- Klinefelter Syndrome, Thyroiditis, Autoimmune, Hypothyroidism
- Trial name
- THINKS (NCT05581147)
- Where
- Italy
- Volunteers
- 600 people
- Sponsor
- University of Roma La Sapienza
Klinefelter Syndrome, Hypergonadotropic Hypogonadism
Androgen for Leydig Cell Proliferation
Patients with infertility often presents alterations at ultrasonographic examination of the testis. These alterations include a much higher incidence of small, multiple, non-palpable hypoechoic micro-nodules that can show…
- Conditions
- Klinefelter Syndrome, Hypergonadotropic Hypogonadism, Hypergonadotropic Azospermia, Hypergonadotropic Cryptozoospermia
- Trial name
- ALCeP (NCT01206270)
- Testing
- Testosterone undecanoate, Castor Oil
- Where
- Italy
- Volunteers
- 56 people
- Sponsor
- University of Roma La Sapienza
Klinefelter Syndrome, Turner Syndrome
Turner And Klinefelter Treatment Target Study
Rationale: Health related Quality of life (HRQoL) is impaired in patients with Turner and Klinefelter syndrome (TS and KS). It is unknown what the optimal endocrine treatment target values are that maximize HRQoL in patients with…
- Trial name
- TAKTT (NCT04803474)
- Testing
- Measurement of blood values, questionnaire scores and measurements of hormone levels in hair
- Where
- Netherlands
- Volunteers
- 370 people
- Sponsor
- dr. Laura C. G. de Graaff-Herder
Klinefelter Syndrome
Body Composition in Infants With Klinefelter Syndrome and Effects of Testosterone Treatment
This research study in infant males with Klinefelter syndrome (47,XXY) will learn more about body composition (muscle and fat) and male hormones and look at the effect of testosterone shots on body composition.
- Trial name
- NCT02408445
- Testing
- testosterone cypionate 200mg/ml
- Where
- United States
- Volunteers
- 20 people
- Sponsor
- University of Colorado, Denver
Klinefelter Syndrome, Diabetes
Body Composition, Bone Mineral Density, Insulin Sensitivity and Echocardiographic Measurements in Klinefelter Syndrome
Klinefelter syndrome (KS) is the most common sex-chromosome disorder with a prevalence of one in 660 men and is a frequent cause of hypogonadism and infertility.
- Conditions
- Klinefelter Syndrome, Diabetes, Osteoporosis, Metabolic Syndrome
- Trial name
- NCT00523835
- Where
- Denmark
- Volunteers
- 140 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Endocrinology, Disorders of Sexual Development
Retrospective Analysis of the Neonatal Management of Patients with an Antenatal Diagnosis of Genital Development Variation At the Hospital of Lyon
Variations in genital development (VDG) account for 0.5% to 1% of births. Advances in ultrasound techniques, as well as in prenatal diagnosis techniques, particularly in genetics, have led to improvements in the prenatal…
- Conditions
- Endocrinology, Disorders of Sexual Development, Prenatal Diagnosis, Psychology
- Trial name
- PECAN-VDG (NCT06687252)
- Where
- France
- Volunteers
- 170 people
- Sponsor
- Hospices Civils de Lyon
Klinefelter Syndrome
Adaptive Behavior Assessment of Men With 49, XXXXY, Klinefelter Syndrome
Klinefelter syndrome, a congenital chromosomal abnormality with one or more extra X chromosomes, occurs in out of 400 live male births. The majority of Klinefelter men present with a 47, XXY karyotype.
- Trial name
- NCT00347464
- Where
- United States
- Sponsor
- University of Wisconsin, Madison
Klinefelter Syndrome
Androgen Effect on Klinefelter Syndrome Motor Outcome
The purpose of this study is to evaluate the effects of low-dose androgen on the motor and cognitive development of boys with Klinefelter syndrome.
- Trial name
- NCT00348946
- Testing
- androgen oxandrolone
- Where
- United States
- Volunteers
- 93 people
- Sponsor
- Thomas Jefferson University
Turner Syndrome, Klinefelter Syndrome
X-chromosome Inactivation, Epigenetics and the Transcriptome
The human genetic material consists of 46 chromosomes of which two are sex chromosomes. The sex-chromosome from the mother is the X and from the father the Y-chromosome.
- Conditions
- Turner Syndrome, Klinefelter Syndrome, Triple X Syndrome, 47 XYY Syndrome
- Trial name
- NCT01678261
- Where
- Denmark
- Volunteers
- 110 people, healthy volunteers welcome
- Sponsor
- University of Aarhus
Klinefelter Syndrome
Subcapsular Orchiectomy in Men With Klinefelter Syndrome
Men with Klinefelter syndrome undergo unilateral subcapsular ochiectomy, and the removed testicular tissue is examined for presence of sperm and cryopreserved in small pieces for fertility treatment and scientific purposes.
- Trial name
- NCT01750632
- Testing
- Orchiectomy
- Where
- Denmark
- Volunteers
- 14 people
- Sponsor
- Odense University Hospital
Sex Chromosome Disorders
A Multiple Baseline Feasibility Trial of Social Management Training for People With Sex Chromosome Aneuploidies
We will examine is Social Management Training, a 10-session group-based psychosocial intervention will improve the primary outcome mental health, and secondary outcomes executive functions and autism symptoms, in a multiple…
- Trial name
- TRICXY-SMT (NCT07718997)
- Testing
- Social Management Training
- Where
- Norway
- Volunteers
- 30 people
- Sponsor
- University of Oslo
Osteoporosis
Skeletal Health of Klinefelter Patients
This study compared the bone health of KS patients who were actively monitored in our clinic by dual-energy X-ray absorptiometry (DXA) with that of a control group of healthy volunteers.
- Trial name
- NCT03704987
- Testing
- dual-energy X-ray absorptiometry
- Where
- Turkey (Türkiye)
- Volunteers
- 247 people, healthy volunteers welcome
- Sponsor
- TC Erciyes University