se of genetics in improving the diagnosis of abnormal genitalia in childre
Not Applicable
- Conditions
- Health Condition 1: N51- Disorders of male genital organs in diseases classified elsewhere
- Registration Number
- CTRI/2023/08/056924
- Lead Sponsor
- KLE Academy of Higher Education and Research (KAHER) University
- Brief Summary
Not available
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- ot Yet Recruiting
- Sex
- Not specified
- Target Recruitment
- 0
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 < 11.
4.46 XY DSD with who have undergone surgery.
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.
Study & Design
- Study Type
- Observational
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method This study is expected to improve genetic diagnosis of 46 XY DSDTimepoint: 1 year
- Secondary Outcome Measures
Name Time Method This study will help in establishing the correlation between phenotypic, hormonal & genetic diagnosis.Timepoint: 1 year