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Molecular classification, precision diagnosis and treatment of disorder of sexual development

Molecular diagnosis and precision treatment of 46, XY disorder of sexual development

Status
Active, not recruiting
Phases
Early Phase 1
Study type
Interventional
Source
ChiCTR
Registry ID
ChiCTR2000036233
Enrollment
Unknown
Registered
2020-08-22
Start date
2020-10-01
Completion date
Unknown
Last updated
2020-09-07

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

Group of androgen insensitivity syndrome:DHT gel
5?-reductase deficiency:DHT gel

Sponsors

Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine
Lead Sponsor

Eligibility

Sex/Gender
Male
Age
1 Years to 14 Years

Inclusion criteria

Inclusion criteria: 1. Patients with various types of hypospadias aged from 1 to 14; 2. Patients with micro-penis (penis length less than -2.5SD of the same age) combined with hypospadias, scrotal pessaries and cryptorchidism; 3. Patients with clitoral hypertrophy and proved hromosomal karyotype of 46,XY; 4. The patient was born and raised by a girl, whose testicular tissue was found by hernia surgery, and whose chromosome karyotype was confirmed to be 46,XY; 5. Patients and guardians are able and willing to sign informed consent and comply with the requirements of this study; 6. The chromosomal karyotype was 46, XY, and the patient and his family decided to live as a male gender.

Exclusion criteria

Exclusion criteria: 1. Patients were diagnosed as Klinefelter syndrome with chromosome karyotype 47, XXY; 2. Patients with complete androgen insensitivity syndrome and live in the female gender; 3. Patients diagnosed with Kallman syndrome and low gonadotropin gonadal dysplasia; 4. Patients with simple virilization type of congenital adrenal hyperplasia; 5. Patients with ovotestish disorder of sexual development and chromosome karyotype of 46 ,XX were excluded 6. Patients who used hCG or testosterone therapy in the last three months 7. Patients with normal development and a clear diagnosis of gender dysphoria

Design outcomes

Primary

MeasureTime frame
external masculinization score;Stretched penile length (SPL);

Countries

China

Contacts

Public ContactJie Qiao

Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine

qiaoj2001@126.com+86 13661995391

Outcome results

None listed

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