临床试验/CTRI/2025/07/091162

CTRI/2025/07/091162招募中不适用

Clinical,Biochemical,genetic profile and gender identity pattern in Disorders of sex development

Department Of Endocrinology1 个研究点分布在 1 个国家目标入组 60 人开始时间: 2025年7月28日最近更新: 2025年11月16日

试验速览

阶段: 不适用
状态: 招募中
发起方: Department Of Endocrinology
入组人数: 60
试验地点: 1
主要终点: To identify proportion of patients in whom a pathogenic or likely pathogennic variant is idenitfied explaining the DSD phenotype

研究概览研究设计入排标准结局指标研究者研究点记录与标识符相似试验

研究概览

简要总结

To study clinical and biochemical parameters in patients with Disorders of sex development and correlate them with genetic analysis and find discrepancies if any.This could help in more accurate diagnosis and gender assignment . Early appropriate diagnosis would aid in future therapies and genetic counselling .

研究设计

研究类型: Observational

入排标准

年龄范围: 1.00 Day(s) 至 60.00 Year(s)（—）
性别: All

入选标准

•46 XX and 46 XY DSD with genital ambiguity,proximal or midshaft hypospadias,Apparent female genitalia with clitoromegaly,Female phenotype with primary amenorrhoea,Children with inguinal or labial mass,Posterior labial fusion and common urogenital sinus.

排除标准

•Sex chromosomal DSD like Turner syndrome and Klinefelter syndrome.
•Ambiguous genitalia due to maternal androgen exposure ,maternal virilizing ovarian or adrenal tumour.

结局指标

主要结局

To identify proportion of patients in whom a pathogenic or likely pathogennic variant is idenitfied explaining the DSD phenotype

时间窗: Baseline

次要结局

To find any discrepancy in assigned gender at birth & gender identity pattern in adolescense

研究者

发起方

Department Of Endocrinology

申办方类型

Government medical college

责任方

Principal Investigator

主要研究者

Aravind kumar

Madurai Medical college

研究点 (1)

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