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National Multi-center Cohort Study of phenotype and genotype of disorder of sexual development in children

National Multi-center Cohort Study of phenotype and genotype of disorder of sexual development in children

Status
Active, not recruiting
Phases
Phase 1
Study type
Observational
Source
ChiCTR
Registry ID
ChiCTR2000029483
Enrollment
Unknown
Registered
2020-02-02
Start date
2020-02-01
Completion date
Unknown
Last updated
2020-02-03

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

disorder of sexual development

Interventions

Case series:Nil

Sponsors

The Children's Hospital, Zhejiang University School Of Medicine
Lead Sponsor

Eligibility

Sex/Gender
Male

Inclusion criteria

Inclusion criteria: The following conditions in the neonatal physical examination suggest the possibility of DSD: (1) Obvious genital obscuration (such as cloaca eversion); (2) The female genitalia are obvious characteristics, but the clitoris is enlarged and the posterior labia is fused (such as CAH); (3) Male genitalia are obvious, but there are bilateral cryptorchidism, hypospadias, or small penis; (4) The appearance of the genitals is not consistent with the prenatal karyotype diagnosis. Infants, children, adolescents, and adolescents undergo physical examination to find the following abnormalities, suggesting that DSD may be: (1) Unclear gender characteristics of genitals; (2) Inguinal hernia (such as CAIS) in girls; (3) Delayed pubertal development or incompatible genital phenotype and rearing gender (such as abnormal increase in clitoris in adolescence); (4) Primary amenorrhea or virilization of women; (5) Feminization of male breasts; (6) Periodic severe hematuria in men.

Exclusion criteria

Exclusion criteria: (1) Clear diagnosis of disorder of sexual development; (2) Other chromosomal abnormalities with disorder of sexual development; (3) Abnormal sexual differentiation affected by drugs and environment.

Design outcomes

Primary

MeasureTime frame
gene test;

Secondary

MeasureTime frame
height;weight;Sexual development;sexual hormone;Electrolyte determination;

Countries

China

Contacts

Public ContactFu Junfen

The Children's Hospital, Zhejiang University School Of Medicine

fjf68@qq.com+86 13777457849

Outcome results

None listed

Source: ChiCTR (via WHO ICTRP) · Data processed: Feb 4, 2026