PTH/PTHrP signaling pathway disorders
Conditions
Interventions
Sponsors
Eligibility
Inclusion criteria
Inclusion criteria: 1. Age >= 3.5 years; 2. The bone age of girls = 13 years and that of boys = 15 years; 3. PTH/PTHrP signaling pathway disorders diagnosed by clinical phenotypic and genetic tests (including PHP1A, PHP1C, ACRDYS1, ACRDYS2, HTNB, PTHLH and TRPS1 gene mutations); 4. Subjects and guardians are willing and able to cooperate in completing the scheduled visit, treatment plan, laboratory examinations, and other testing procedures, and they or their guardians sign the informed consent voluntarily.
Exclusion criteria
Exclusion criteria: 1. Retrospective cases treated with growth hormone for less than two years; 2. Patients with diabetes, epilepsy, mental retardation, skeletal deformity, femoral head slippage, severe cardiopulmonary, hematological, and malignant tumors or systemic infections, immunodeficiency, and mental illness; 3. Those allergic to growth hormone or its protective agents; 4. Failure to provide complete medical records, failure to expect complete follow-up, or failure to collect complete medical records; 5. Other conditions deemed unsuitable by the investigator for inclusion in this clinical trial.
Design outcomes
Secondary
| Measure | Time frame |
|---|---|
| ?HtSDS ( CA, BA), GV,IGF-1,Bone metabolism,BMI,Body compositon before and after treatment;Glycolipid metabolic profile;Adverse events and complications; | — |
Primary
| Measure | Time frame |
|---|---|
| The change in predicted adult height before and after treatment(?PAH); | — |
Countries
China
Contacts
Children's Hospital of Soochow University