congenital adrenal hyperplasia
Conditions
Interventions
Potential patient group:No intervention required
Heterozygous carriers of SW or SV mutations:No intervention required
Third generation sequencing test negative group:No intervention required
Pedigree verification group:None
Sponsors
Central South University
Eligibility
Sex/Gender
All
Inclusion criteria
Inclusion criteria: 1. Newborns born between January 2023 and August 2023; 2. The newborn guardian has signed an informed consent form; 3. Complete clinical information recording, including gender, gestational age, birth weight, sample collection date, etc; 4. At least two dry blood spots with a diameter of = 8 mm; 5. Newborns can be followed up for 10 years.
Exclusion criteria
Exclusion criteria: 1. Patients with infectious diseases; 2. Samples that do not meet the requirements during collection, storage, and transportation, resulting in substandard quality; 3. Samples that are confused due to incorrect labeling.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| 17-OHP biochemical detection;pathogenic variants; | — |
Secondary
| Measure | Time frame |
|---|---|
| Hormone detection; | — |
Countries
China
Contacts
Public ContactDesheng Liang
School of Life Sciences, Central South University
Outcome results
None listed