Turner syndrome
Conditions
Interventions
Turner syndrome patients group vs normal control group:N/A
Sponsors
Children's Hospital of Shanghai
Eligibility
Sex/Gender
Female
Inclusion criteria
Inclusion criteria: 1. Primary screening of TS patients. For girls who come to Shanghai Children's Hospital for treatment due to growth retardation and gonadal dysplasia, if they are in height, secondary sexual syndrome, development of external genitalia, level of sex hormone and related thyroid hormone, color Doppler ultrasound of heart and kidney, and color Doppler ultrasound of pelvic cavity to explore internal reproductive organs and gonadal development, they are in line with the "clinical diagnosis and treatment of Turner syndrome" in the consensus of pediatric diagnosis and treatment of Turner syndrome The phenotypic characteristics described in the part of "bed performance" are preliminarily judged as TS patients. 2. For the patients with TS, the karyotype analysis was carried out according to the standard diagnostic procedure. If there is a complete X chromosome in the karyotype, and another X chromosome is completely or partially missing, the patients with TS should be diagnosed. It is suggested that the patients should be enrolled in this study. 3. At the same time, the girls who went to the common cold clinic without any gender abnormality were enrolled into the healthy control group voluntarily. 4. All children and their families, healthy children and their families participating in the study signed the informed consent approved by the ethics committee. 5. Take 2 ml of weekly blood from each subject and their parents, keep it frozen, and extract DNA when necessary.
Exclusion criteria
Exclusion criteria: The diagnosis of Turner's syndrome is not considered for the following cases. 1. Individuals with 45, X cells, but without clinical characteristics, need further examination or follow-up observation. 2. male phenotype patients with karyotype of 45, X/46, XY. 3. When the x-terminal deletion contains the shox gene, there are usually short stature and other Turner syndrome related skeletal abnormalities. But without Xp22.3 deficiency, the risk of ovarian dysfunction is low and can not be diagnosed as Turner syndrome. 4. The absence of xqter-q24 may lead to primary or secondary amenorrhea, but there is no short stature or other Turner syndrome characteristics, which is usually diagnosed as premature ovarian failure. 5. The diagnosis of Turner's syndrome by individuals with abnormal sex chromosome structure needs to be combined with clinical evaluation. Patients who did not meet the standard or refused to participate in the study were excluded, and patients who were diagnosed with other diseases during the test were excluded.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| stature;weight;blood pressure;growth rate;Bone age before treatment;GH peak;IGF1 and IFGBP3;thyroid function;insulin;Blood glucose and glycosylated hemoglobin;Sexual development rating;AMH;The size and shape of uterus, the thickness of endometrium, the size of bilateral ovaries and the size of follicles were observed by pelvic ultrasonography;The condition of abdominal organs by B-ultrasound;Echocardiography to observe whether the heart is abnormal;For those who have been treated with drugs such as growth hormone and / or sex hormone replacement, the growth rate, sexual development rating, treatment status and outcome shall be recorded; | — |
Countries
China
Contacts
Public ContactZhang Ying
Children's Hospital of Shanghai
Outcome results
None listed