About this trial
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.
Eligibility criteria
This trial accepts healthy volunteersQualifiers
infants born with symptoms of DSD
infants born from parents with CHH
Disqualifiers
premature < 35 weeks of gestation
male infants with high scrotal cryptorchidism
Trial population
All infants born in canton de Vaud in Switzerland
Trial design
Case-control
Prospective
Treatments tested in this trial
Not listed
Trial groups
Trial outcomes
Primary outcomes
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)
Secondary outcomes
quantification of Nitric Oxide metabolites during minipuberty
measurements of Nitrite (NO2-) and nitrate (NO3-) in blood
change in expression of genes involved in the NO pathway
RNA sequencing of samples collected in blood
Sponsors and contacts
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