Evaluation of Minipuberty in Infants Born With a Variation in Sexual Development
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 100
- 试验地点
- 1
- 主要终点
- Hormonal changes in blood and in urine during minipuberty (LH, FSH, steroid profile, Testosterone, Estradiol (in girls), AMH, inhibin B)
研究概览
简要总结
Disorders of sex development (DSD) occur in 1/3000 births and are defined by variation in aspect of external genital organs, e.g. cryptorchidism, hypospadias and micropenis in male infants and clitoral hypertrophy in female infants. Genetic, hormonal and environmental factors are implicated in DSD. Infants with congenital hypogonadism hypogonadotrope (CHH) can present with DSD. Evaluation of hormonal profile during minipuberty could be of great help to better characterize the etiology of DSD and CHH in particular. Our main objective is to study hormonal profile during the minipuberty of infants born with DSD or born from parents with CHH compared to controls.
研究设计
- 研究类型
- Observational
- 观察模型
- Case Control
- 时间视角
- Prospective
入排标准
- 年龄范围
- — 至 9 Months（Child）
- 性别
- All
- 接受健康志愿者
- 是
入选标准
- •infants born with symptoms of DSD
- •infants born from parents with CHH
排除标准
- •premature < 35 weeks of gestation
- •male infants with high scrotal cryptorchidism
结局指标
主要结局
Hormonal changes in blood and in urine during minipuberty (LH, FSH, steroid profile, Testosterone, Estradiol (in girls), AMH, inhibin B)
时间窗: at 2, 6 and 9 months of age (window for minipuberty)
Reproductive profile: LH and FSH (UI/L) steroid profile (nmol/L) Testosterone and Estradiol (nmol/L) AMH (ng/mL) inhibin B (pg/mL)
次要结局
- change in expression of genes involved in the NO pathway(at birth (if available), 2, 6 and 9 months of age)
- quantification of Nitric Oxide metabolites during minipuberty(at 2, 6 and 9 months of age)
研究者
Nelly Pitteloud
Professor, Head od Endocrine department
Centre Hospitalier Universitaire Vaudois