CHH, DSD
Conditions
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.
Interventions
None listed
Sponsors
Centre Hospitalier Universitaire Vaudois
Study design
Observational model
CASE_CONTROL
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
No minimum to 9 Months
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Hormonal changes in blood and in urine during minipuberty (LH, FSH, steroid profile, Testosterone, Estradiol (in girls), AMH, inhibin B) | 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
| Measure | Time frame | Description |
|---|---|---|
| quantification of Nitric Oxide metabolites during minipuberty | at 2, 6 and 9 months of age | measurements of Nitrite (NO2-) and nitrate (NO3-) in blood |
| change in expression of genes involved in the NO pathway | at birth (if available), 2, 6 and 9 months of age | RNA sequencing of samples collected in blood |
Countries
Switzerland
Contacts
Primary ContactNelly Pitteloud, MD
Backup ContactResearch assistant
Outcome results
None listed