Partial androgen insensitivity syndrome
Conditions
Interventions
PAIS group:Nil
normal control group:Nil
Sponsors
Shanghai Children's Hospital
Eligibility
Sex/Gender
All
Age
No minimum to 10 Years
Inclusion criteria
Inclusion criteria: (1) Aged < 10 years; (2) The gender phenotype of external genitalia is unclear; (3) Sex hormone detection androgen increased or normal, pituitary secretion of FSH, LH function is normal; (4) There were testis in pelvic imaging examination, but the uterus was not detected; (5) Karyotype analysis was consistent with 46, XY; (6) Clinical gene detection of AR gene abnormalities; (7) Exclude 5- reductase 2 deficiency, adrenocortical hyperplasia and other diseases.
Exclusion criteria
Exclusion criteria: (1) Combined with other genetic or clinical phenotypic defects; (2) A history of brain injury with mental retardation; (3) Very low birth weight infant; (4) MRI monitoring was contraindicated; (5) The informed consent of the guardian cannot be obtained.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| The size of the amygdala;questionnaire score; | — |
Countries
China
Contacts
Public ContactYan Li
Shanghai Children's Hospital
Outcome results
None listed