Recruiting

Gonadal Tissue Freezing

Sponsor:

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Code:

NCT04948658

Conditions

Turner Syndrome

Post-menarcheal Adolescents

Ovarian Disfunction

Galactosemia

Variations in Sex Characteristics

Eligibility Criteria

Sex: All

Age: 2 - 35

Healthy Volunteers: Not accepted

Study Details

Brief summary:

Background:

Turner Syndrome, galactosemia, and premature ovarian insufficiency are all conditions that may make it very hard or impossible for a person to become pregnant and have their own child. Researchers want to learn more about why this happens and if freezing Gonadal tissue allows for fertility preservation.

Objective:

To find out why people with certain conditions have can have premature ovarian insufficiency (POI or early menopause) and individuals with variations in sex characteristics have trouble getting pregnant and if freezing the gonads tissue from them will help to have their own child in the future.

Eligibility:

Individuals aged 2-21 who have Turner Syndrome or galactosemia. Also, females aged 13-21 with premature ovarian insufficiency, individuals with variations in sex characteristics, and individuals 2-35 receiving high-risk gonadotoxic therapy

Design:

Participants will be screened with a medical history.

Participants may have a physical exam and blood tests. Their body measurements may be taken. These include weight, height, arm span, skin fold, and sitting height. They may fill out surveys about their quality of life, body image, and health.

Participants may have a transabdominal pelvic ultrasound. A probe will be placed on their belly and will take pictures of the organs in the pelvis. They may have a transvaginal pelvic ultrasound performed while asleep in the operating room if needed.

Participants may have surgery to remove an gonads and skin biopsy. The removed tissue will be frozen and stored. The tissue will have to be stored for many years. NIH will pay to store the tissue for 1 year. After that, participants will have to pay for storage.

A piece of the gonads (no more than 20%) will be used for research

Travel, lodging and meals for participants traveling greater than 50 miles will be reimbursed based off the government rate. Local participants will not be reimbursed.

Participants will have a checkup 6 weeks after surgery one or more follow-up visits 6-18 months after surgery. They may have phone follow-up every 12-24 months after surgery.

Participation will last 30 years.

Conditions

Turner Syndrome

Post-menarcheal Adolescents

Ovarian Disfunction

Galactosemia

Variations in Sex Characteristics

Study ID

NCT04948658

Start date

Sep 13, 2021

Status verified date

Aug 12, 2026

Completion date

Jul 31, 2030

Anticipated

Primary completion date

Jul 31, 2030

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 2 - 35

Healthy Volunteers: Not accepted

  • INCLUSION CRITERIA:

In order to be eligible to participate in this study, an individual must meet all of the following criteria:

1. Individuals with Turner Syndrome prior to menarche aged 2 years to 12 years whose families seek to store ovarian tissue for possible future use.

Or

Individuals with galactosemia (age 2-21)

Or

Adolescent females up to age 21 years old, who have undergone menarche and are subsequently diagnosed with premature ovarian insufficiency and their last menstrual period occurred within 2 years of presentation. Diagnosis of POI is based on 2 elevated FSH concentrations obtained over 1 month apart.

Or

Children or adolescents aged 2-24 years old who have diminished ovarian reserve based on laboratory findings or who respond poorly to ovarian stimulation for egg freezing.

Or

Individuals with variations in sex characteristics (or differences in sex development, DSD) including Turner syndrome with Y chromosome material who undergo prophylactic gonadectomy for clinical indications.

Or

Individuals (2-35 years) receiving high-risk gonadotoxic therapy at the NIH Clinical Center who are at high risk for developing premature ovarian insufficiency and infertility.
2. Stated willingness to comply with all study procedures and availability for the duration of the study.
3. Ability of subject, parents, or guardian to understand and the willingness to sign a written informed consent document.

EXCLUSION CRITERIA:

An individual who meets any of the following criteria will be excluded from participation in this study:

1. Individuals older than 7 years with psychological, psychiatric, or other conditions which prevent giving fully informed consent or assent.
2. Individuals with a pelvic mass tumor noted on pre-operative ultrasound, will undergo usual care for the underlying condition and will not undergo oophorectomy for ovarian tissue cryopreservation.
3. Individuals whose underlying medical condition significantly increases their risk of complications from anesthesia and surgery.
4. Females with POI due to chemotherapy or radiation treatment
5. Pregnancy or lactation
6. Individuals with VSC who choose to retain gonads after clinical consulting.
7. Individuals with Turner Syndrome who have an undetectable AMH based on testing laboratory reference range.

Study Design

Enrollment

200 participants

Anticipated

Interventions and Outcome Measures

Arms

Adolescents with DOR

Adolescents with diminished ovarian reserve (DOR) who respond poorly to ovarian stimulation for egg freezing.

Adolescents with POI

Adolescent females up to age 21 years old, who have undergone menarche and are subsequently diagnosed with POI and their last menstrual period occurred within 2 years of presentation.

Individuals receiving high-risk gonadotoxic therapy

Individuals (2-35 years) receiving high-risk gonadotoxic therapy at the NIH Clinical Center who are at high risk for developing premature ovarian insufficiency and infertility.

Individuals with variations in sex characteristics (or differences in sex development, DSD)

Individuals with variations in sex characteristics (or differences in sex development, DSD) who undergo gonadectomy for clinical indications.

Turner Syndrome and galactosemia

Individuals with Turner Syndrome prior to menarche aged 2 years to 12 years, who have not previously demonstrated signs of premature ovarian insufficiency (FSH>25 IU/L).

Turner Syndrome with Y material

Children and adolescents who have Turner syndrome with Y material and undergo prophylactic gonadectomy.

Primary outcome measure

  • Single cell/nucleus RNA sequencing [ Time Frame: before and after cryopreservation ]
  • Tissue for research [ Time Frame: before and after cryopreservation ]

Central Contacts and Locations

Central contacts

Veronica Gomez-Lobo, M.D.

(301) 435-7567veronica.gomez-lobo@nih.gov

Locations

National Institutes of Health Clinical Center

Recruiting

Bethesda, Maryland, United States, 20892

Contacts

For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR)

800-411-1222prpl@cc.nih.gov

More Information

Sponsor

Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Last update posted

Aug 14, 2026

Last verified

Aug 12, 2026

Keywords

  • OVARIAN FUNCTION
  • Natural History
  • follicle loss
  • Variations in Sex Characteristics
  • Differences in Sex Development

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) on 2026-08-14.