Minipuberty in Infants Born With Potential Hypogonadism Hypogonadotrope

NCT05058781 | Recruiting

• 1 other identifier: CER-VD 2016-01232
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

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.

Conditions

DSD; CHH

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (2)

• quantification of Nitric Oxide metabolites during minipuberty

  at 2, 6 and 9 months of age

• change in expression of genes involved in the NO pathway

  at birth (if available), 2, 6 and 9 months of age

Eligibility Criteria

• Age: Up to 9 Months
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

All infants born in canton de Vaud in Switzerland

You may qualify if:

• infants born with symptoms of DSD
• infants born from parents with CHH

You may not qualify if:

• premature \< 35 weeks of gestation
• male infants with high scrotal cryptorchidism

Sponsors & Collaborators

• Centre Hospitalier Universitaire Vaudois: lead

Study Sites (1)

Centre Hospitalier Universitaire Vaudois (CHUV)

Lausanne, Canton of Vaud, 1011, Switzerland

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

blood, urine, buccal swabs, cord blood

Study Officials

• Nelly Pitteloud, MD

  CHUV

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Nelly Pitteloud, MD

CONTACT

+41 79 556 27 36; nelly.pitteloud@chuv.ch

Research assistant

CONTACT

+41 (0)79 556 37 50; edm.biobank@chuv.ch

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Target Duration: 18 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor, Head od Endocrine department

Study Record Dates

• First Submitted: September 17, 2021
• First Posted: September 28, 2021
• Study Start: January 1, 2017
• Primary Completion (Estimated): December 31, 2026
• Study Completion (Estimated): December 31, 2030
• Last Updated: July 22, 2022

Record last verified: 2022-07

Locations

CH (1)