Minipuberty in Infants Born With Potential Hypogonadism Hypogonadotrope

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

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.

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