Evaluation of Minipuberty in Infants Born With a Variation in Sexual Development
Trial Snapshot
- Phase
- Not Applicable
- Status
- Recruiting
- Enrollment
- 100
- Locations
- 1
- Primary Endpoint
- Hormonal changes in blood and in urine during minipuberty (LH, FSH, steroid profile, Testosterone, Estradiol (in girls), AMH, inhibin B)
Study Overview
Brief Summary
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.
Study Design
- Study Type
- Observational
- Observational Model
- Case Control
- Time Perspective
- Prospective
Eligibility Criteria
- Ages
- — to 9 Months (Child)
- Sex
- All
- Accepts Healthy Volunteers
- Yes
Inclusion Criteria
- •infants born with symptoms of DSD
- •infants born from parents with CHH
Exclusion Criteria
- •premature < 35 weeks of gestation
- •male infants with high scrotal cryptorchidism
Outcomes
Primary Outcomes
Hormonal changes in blood and in urine during minipuberty (LH, FSH, steroid profile, Testosterone, Estradiol (in girls), AMH, inhibin B)
Time Frame: 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)
Secondary Outcomes
- 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)
Investigators
Nelly Pitteloud
Professor, Head od Endocrine department
Centre Hospitalier Universitaire Vaudois