Minipuberty in Infants Born With Potential Hypogonadism Hypogonadotrope

Recruiting

• Conditions: DSD; CHH

• Registration Number: NCT05058781
• Lead Sponsor: Centre Hospitalier Universitaire Vaudois

Brief Summary

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.

Detailed Description

Not available

Study Timeline

• Study Start: 2017-01-01
• Study First Submitted: 2021-09-17
• Study First Submitted QC: 2021-09-17
• Study First Posted: 2021-09-28
• Status Verified: 2022-07
• Last Update Submitted: 2022-07-19
• Last Update Posted: 2022-07-22
• Primary Completion: 2026-12-31
• Study Completion: 2030-12-31

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 100

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Hormonal changes in blood and in urine during minipuberty (LH, FSH, steroid profile, Testosterone, Estradiol (in girls), AMH, inhibin B)	at 2, 6 and 9 months of age (window for minipuberty)	Reproductive profile: LH and FSH (UI/L) steroid profile (nmol/L) Testosterone and Estradiol (nmol/L) AMH (ng/mL) inhibin B (pg/mL)

Secondary Outcome Measures

Name	Time	Method
change in expression of genes involved in the NO pathway	at birth (if available), 2, 6 and 9 months of age	RNA sequencing of samples collected in blood
quantification of Nitric Oxide metabolites during minipuberty	at 2, 6 and 9 months of age	measurements of Nitrite (NO2-) and nitrate (NO3-) in blood

Trial Locations

Locations (1)

Centre Hospitalier Universitaire Vaudois (CHUV); 🇨🇭 Lausanne, Vaud, Switzerland