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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.
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| Measure | Description | Time Frame |
|---|---|---|
| Hormonal changes in blood and in urine during minipuberty (LH, FSH, steroid profile, Testosterone, Estradiol (in girls), AMH, inhibin B) | Reproductive profile: LH and FSH (UI/L) steroid profile (nmol/L) Testosterone and Estradiol (nmol/L) AMH (ng/mL) inhibin B (pg/mL) | at 2, 6 and 9 months of age (window for minipuberty) |
| Measure | Description | Time Frame |
|---|---|---|
| quantification of Nitric Oxide metabolites during minipuberty | measurements of Nitrite (NO2-) and nitrate (NO3-) in blood | at 2, 6 and 9 months of age |
| change in expression of genes involved in the NO pathway |
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Inclusion Criteria:
Exclusion Criteria:
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All infants born in canton de Vaud in Switzerland
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Nelly Pitteloud, MD | Contact | +41 79 556 27 36 | nelly.pitteloud@chuv.ch | |
| Research assistant | Contact | +41 (0)79 556 37 50 | edm.biobank@chuv.ch |
| Name | Affiliation | Role |
|---|---|---|
| Nelly Pitteloud, MD | CHUV | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Centre Hospitalier Universitaire Vaudois (CHUV) | Recruiting | Lausanne | Canton of Vaud | 1011 | Switzerland |
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blood, urine, buccal swabs, cord blood
RNA sequencing of samples collected in blood
| at birth (if available), 2, 6 and 9 months of age |