Minipuberty in Infants Born With Potential Hypogonadism Hypogonadotrope (MiniNO)

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.

Study Overview

• Status: Recruiting
• Conditions: DSD; CHH

• Study Type: Observational
• Enrollment (Anticipated): 100

Contacts and Locations

• Study Contact: Name: Nelly Pitteloud, MD; Phone Number: +41 79 556 27 36; Email: nelly.pitteloud@chuv.ch
• Study Contact Backup: Name: Research assistant; Phone Number: +41 (0)79 556 37 50; Email: edm.biobank@chuv.ch

Study Locations

• Switzerland
  • Vaud
    • Lausanne, Vaud, Switzerland, 1011
      • Recruiting
      • Centre Hospitalier Universitaire Vaudois (CHUV)
      • Contact: Emmanuelle Paccou; Phone Number: +41 79 556 60 13; Email: emmanuelle.paccou@chuv.ch
      • Principal Investigator: Nelly Pitteloud, M.D.
      • Contact: Argnesa Stojkaj; Phone Number: +41 79 556 37 50; Email: argnesa.stojkaj@chuv.ch

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: No older than 9 months (Child)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

• Sampling Method: Non-Probability Sample

Study Population

All infants born in canton de Vaud in Switzerland

Description

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 Plan

How is the study designed?

Design Details

• Observational Models: Case-Control
• Time Perspectives: Prospective

What is the study measuring?

Primary Outcome Measures

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

Secondary Outcome Measures

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

Collaborators and Investigators

• Sponsor: Centre Hospitalier Universitaire Vaudois
• Investigators: Principal Investigator: Nelly Pitteloud, MD, CHUV

Study record dates

Study Major Dates

• Study Start (Actual): January 1, 2017
• Primary Completion (Anticipated): December 31, 2026
• Study Completion (Anticipated): December 31, 2030

Study Registration Dates

• First Submitted: September 17, 2021
• First Submitted That Met QC Criteria: September 17, 2021
• First Posted (Actual): September 28, 2021

Study Record Updates

• Last Update Posted (Actual): July 22, 2022
• Last Update Submitted That Met QC Criteria: July 19, 2022
• Last Verified: July 1, 2022

More Information

Terms related to this study

• Other Study ID Numbers: CER-VD 2016-01232

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No