Minipuberty in Infants Born With Potential Hypogonadism Hypogonadotrope
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- This is an observational study: the protocol does not assign a study treatment.
- Who it may be relevant to
- Registry conditions: DSD, CHH. Basic parameters: up to 9 months · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Switzerland
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
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Official title
Evaluation of Minipuberty in Infants Born With a Variation in Sexual Development
Overview
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.
Primary outcome measures
- 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)]
Secondary outcome measures (2)
- quantification of Nitric Oxide metabolites during minipuberty [Time frame: at 2, 6 and 9 months of age]
- change in expression of genes involved in the NO pathway [Time frame: at birth (if available), 2, 6 and 9 months of age]
Eligibility criteria
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
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Observational model
- Case-control
Study locations
Switzerland · 1 center
- Centre Hospitalier Universitaire Vaudois (CHUV) — Lausanne
Identifiers
NCT: NCT05058781 · CER-VD 2016-01232