Actively Recruiting

Age: 0 - 9Months
All Genders
Healthy Volunteers
ID05058781

Evaluation of Minipuberty in Infants Born With a Variation in Sexual Development

Led by Centre Hospitalier Universitaire Vaudois · Updated on 2022-07-22

100

Participants Needed

1

Research Sites

208 weeks

Total Duration

On this page

AI-Summary

What this Trial Is About

Disorders of sex development (DSD) affect about 1 in 3,000 births and involve variations in the external genital organs, such as cryptorchidism, hypospadias, micropenis in male infants, and clitoral enlargement in female infants. Genetic, hormonal, and environmental factors can contribute to DSD. Infants with congenital hypogonadotropic hypogonadism (CHH) may show signs of DSD, and studying hormonal profiles during minipuberty could help clarify the causes of DSD and CHH. This observational study examines the hormonal changes in infants born with DSD or born to parents with CHH, comparing them to healthy controls. Researchers will measure hormones like LH, FSH, testosterone, estradiol (in girls), AMH, and inhibin B, as well as nitric oxide metabolites and gene expression related to nitric oxide pathways. These measurements occur at 2, 6, and 9 months of age, capturing the minipuberty period. Participants will be infants up to 9 months old who meet specific criteria. The study involves collecting blood and urine samples at the specified ages to track hormonal and molecular changes. Researchers aim to better understand hormonal profiles during minipuberty in affected infants. The study is sponsored by Centre Hospitalier Universitaire Vaudois and is planned to continue until the end of 2030.

CONDITIONS

Brief Title

Minipuberty in Infants Born With Potential Hypogonadism Hypogonadotrope

Who Can Participate

Age: 0 - 9Months
All Genders
Healthy Volunteers

Eligibility Criteria

Eligible

You may qualify if you...

  • Infants born with symptoms of disorders of sex development (DSD)
  • Infants born from parents with congenital hypogonadotropic hypogonadism (CHH)
Not Eligible

You will not qualify if you...

  • Premature infants born before 35 weeks of gestation
  • Male infants with high scrotal cryptorchidism

AI-Screening

AI-Powered Screening

Complete this quick 3-step screening to check your eligibility

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Your Study Journey

Screening

Duration - 2 to 4 weeks

Participants are screened for eligibility to participate in the trial.

1 visit (in-person)

Monitoring

Duration - From birth to 9 months of age

Participants are observed and hormonal and genetic measurements are collected during the minipuberty period.

3 visits at approximately 2, 6, and 9 months of age

Trial Site Locations

Total: 1 location

1

Centre Hospitalier Universitaire Vaudois (CHUV)

Lausanne, Canton of Vaud, Switzerland, 1011

Actively Recruiting

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Research Team

N

Nelly Pitteloud, MD

R

Research assistant

How is the study designed?

Study Type

OBSERVATIONAL

Masking

N/A

Allocation

N/A

Model

N/A

Primary Purpose

N/A

Number of Arms

0

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