Studying Hormonal Changes in Infants With Differences in Sexual Development or Parental Hypogonadism During Minipuberty

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.

Minipuberty in Infants Born With Potential Hypogonadism Hypogonadotrope