Klinefelter syndrome
Conditions
Interventions
Klinefelter syndrome observation group:None
Sponsors
Shanghai Children's Hospital
Eligibility
Sex/Gender
Male
Age
10 Years to 25 Years
Inclusion criteria
Inclusion criteria: 1. Non-mosaic type, patients with 47,XXY Klinefelter syndrome; 2. Age 10-25 years old; 3. No concurrent diseases of important organs such as heart, brain, liver, kidneys, adrenal glands, etc.; 4. No intellectual problems, no diseases in the blood, immune, endocrine systems, etc.; 5. No patients with other syndromes accompanied by genetic variations; 6. Fully understand the purpose, value, significance, and data collection of this study, and sign the informed consent form.
Exclusion criteria
Exclusion criteria: 1. All Klinefelter syndrome except 47,XXY; 2. Patients with other abnormalities in the endocrine axis; 3. History of chemotherapy or radiotherapy, testicular torsion or severe testicular trauma, and untreated cryptorchidism.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Testicular function (testicular volume, LH and T levels, degree of testicular fibrosis); | — |
Secondary
| Measure | Time frame |
|---|---|
| Bone density (BMD);Physical examination (height, weight, BMI, waist circumference, blood pressure);Biochemical indicators of glucose metabolism (blood glucose, insulin, glycosylated hemoglobin A1c);Age at onset of spontaneous puberty in KS;Hormone levels (FSH, AMH, INHB, INSL3, E2);Lipid metabolism (TC/TG/LDL/ lipid metabolome profile); | — |
Countries
China
Contacts
Public ContactYiqing Lv
Shanghai Children's Hospital
Outcome results
None listed