Health Condition 1: N51- Disorders of male genital organs in diseases classified elsewhere
Conditions
Interventions
Control Intervention1: nil: nil
Sponsors
KLE Academy of Higher Education and Research (KAHER) University
Eligibility
Inclusion criteria
Inclusion criteria: 1. All new patients with 46 XY karyotyping presenting significant atypical genitalia, proximal to mid shaft hypospadias with unilateral or bilateral cryptorchidism, apparently female like genitalia with palpable gonads or clitoromegaly, female with primary amenorrhoea. 2. Old cases of 46 XY DSD (diagnosis based on hormonal evaluation). 3. External masculinization score (EMS) of 4. 46 XY DSD with who have undergone surgery.
Exclusion criteria
Exclusion criteria: 1. 46 XX DSD and sex chromosome DSD. 2. Children with isolated glanular or distal hypospadias or unilateral inguinal testes. 3. Children with cloacal anomalies and bladder exstrophy. 4. Parents not giving consent for the same.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| This study is expected to improve genetic diagnosis of 46 XY DSDTimepoint: 1 year | — |
Secondary
| Measure | Time frame |
|---|---|
| This study will help in establishing the correlation between phenotypic, hormonal & genetic diagnosis.Timepoint: 1 year | — |
Countries
India
Contacts
Public ContactDr Shaila Pachapure
Jawaharlal Nehru Medical College
Outcome results
None listed