DSD, 46,XYDSDNCT06692049
Gonadal Tissue Cryopreservation for Fertility Preservation in Children With a Disorder of Sex Development
An observational study of DSD, 46,XY and DSD, Ovotesticular, run by Erin Rowell at 1 site in United States.
Trial summary
The purpose of this study is to offer gonadal tissue freezing and storage to children who are diagnosed with a disorder of sex development (DSD), who are at increased risk of infertility and certain malignancies (cancer). This study involves the storage of gonadal tissue that is being removed for medical reasons (e.g. Read more about this study
- Who is it for?
- Ages Up to 30 yearsHealthy volunteers can take part
- Conditions the study is for
- DSD, 46,XY, DSD, Ovotesticular, DSD, Sex Chromosome
- What is being tested?
- Gonadectomy
- Type of treatment
- Surgery or procedure
- How many people
- 250 participants
- Where
- 1 siteUnited States
- Study dates
- 4 Apr 2018to 31 Dec 2035
- How long will I take part?
- 10 Years
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 30 years
- All sexes
- Healthy volunteers accepted
- Child, Adult
Study population: Children diagnosed with a disorder of sex development who have any risk for malignancy in their gonadal tissue or will have their gonads removed for another clinical indication
Who may be able to join
- Individual < 30 years of age
- Children diagnosed with a disorder of sex development who have any risk for malignancy in their gonadal tissue or will have their gonads removed for another clinical indication
Who cannot join
- Pregnant children
- Patients likely to retain inherent fertility and reproductive function
- Children deemed high risk for perioperative complications
- Patients 12-18 unable to provide assent (i.e. significant psychiatric problems/cognitive delay)
- Patients 18 and older unable to provide consent (i.e. significant psychiatric problems/cognitive delay)
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
Ann & Robert H. Lurie Children's Hospital of Chicago
Chicago, Illinois, 60611
Sara Reyes, 312-227-4145, FertilityPreservation@luriechildrens.org
Erin Rowell, MD
About this study
The purpose of this study is to offer gonadal tissue freezing and storage to children who are diagnosed with a disorder of sex development (DSD), who are at increased risk of infertility and certain malignancies (cancer). This study involves the storage of gonadal tissue that is being removed for medical reasons (e.g. prevention of cancer development). It includes the processing and freezing of this gonadal tissue, hopefully for potential future use. The tissue will then be stored long-term until the child wishes to try to use the tissue.
Read the detailed description
DSD are conditions in which there is incongruence in an individual's chromosomal, gonadal, or phenotypic sex (refers to sex as determined by an individual's internal or external genitalia and expression of secondary sex characteristics).Different DSD diagnoses have varying degrees of risk for future malignancy. The treating doctor has or will discuss with the participant the risk of developing cancer due to the child's specific diagnosis, and help decide whether this option is in the best interest of the child, and if there are other options to consider (e.g. leaving gonadal tissue in place and monitoring for development of malignancy). If the participant and family have decided to move forward with removal of gonadal tissue for this clinical reason, they will be asked if they would like to have the child participate in this study.
This study seeks to find out if removing gonadal tissue in adolescents and children at risk for losing fertility potential (the ability to have children) and who are scheduled to receive a gonadectomy (removal of gonads) for clinical purposes may preserve, or keep, their ability to have children in the future. Additionally, a primary objective of this study is to use donated research tissue to study long-term ways to preserve and restore reproductive function for children diagnosed with a DSD. Gonadal tissue cryopreservation in patients diagnosed with a DSD is still considered experimental. There have been no reported live births or pregnancies in this population following gonadal tissue cryopreservation at this time.
- Conditions
- DSD, 46,XY, DSD, Ovotesticular, DSD, Sex Chromosome, Disorders of Sex Development, Disorder of Sex Development, 46,XY, Disorder of Sex Development, 46,Xy, Cbx2-Related
- Being tested
- Gonadectomy
- Keywords
- DSD, GTC, Gonadectomy, Cryopreservation, Fertility Preservation
- Medical subject headings
- Disorder of Sex Development, 46,XY, Ovotesticular Disorders of Sex Development, Sex Chromosome Disorders of Sex Development, Disorders of Sex Development, 46, XY Sex Reversal 5
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
GonadectomyProcedure or surgery
Gonadal tissue being removed for risk of malignancy may be cryopreserved for fertility preservation
| Study group | Role | What they receive |
|---|---|---|
| Disorders of Sex Development (DSD) | The study seeks to find out if removing gonadal tissue in adolescents and children at risk for losing fertility potential (the ability to have children) and who are scheduled to receive a gonadectomy (removal of gonads) for clinical purposes may preserve, or keep, their ability to have children in the future. Additionally, donated research tissue would be used to study long-term ways to preserve and restore reproductive function of children diagnosed with DSD Receives: Procedure: Gonadectomy |
What is being measured
The primary outcome is the main question the study is designed to answer.
Gonadal Tissue Cryopreservation for Fertility Preservation in Children with Disorders of Sex Development
The primary outcome is to evaluate the presence of viable germs cells based on histologic evaluation of the gonads for number of germ cells per high power field and to cryopreserve the tissue.
Measured: 3 months
Secondary outcomes (1)
Gonadal Tissue Cryopreservation for Fertility Preservation in Children with Disorders of Sexual Development (DSD)
Secondary outcomes:
- Utilize donated research tissue biopsy to establish and investigate technologies that will enable long-term preservation of reproductive function in patients with DSD. In particular the tissue will be used to optimize techniques for freezing and thawing of gonadal tissue for use in tissue transplant, in-vitro follicle maturation, or obtaining spermatogonial stem cells.
Measured: yearly, up to 20 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Nov 2024
- Study start4 Apr 2018
- Primary completion31 Dec 2030 (estimated)
- Study completion31 Dec 2035 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for DSD, 46,XYStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 250 participants (estimated)
- Target duration
- 10 Years
Sponsor and investigators
- Lead sponsor
- Erin Rowell
- Sponsor type
- University, hospital or other
- Collaborators
- Ann & Robert H Lurie Children's Hospital of Chicago
- Responsible party
- Sponsor-investigator, Erin Rowell, Ann & Robert H Lurie Children's Hospital of Chicago
- Investigators
- Erin Rowell, MD, Principal investigator, Ann & Robert H Lurie Children's Hospital of Chicago
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06692049
- Sponsor's protocol ID
- 2017-1164
- Acronym
- DSD
- Status last verified
- Jul 2026
- First submitted
- 28 Aug 2020
- Last updated
- 3 Sep 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 3 Sep 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Gonadal Tissue Cryopreservation for Fertility Preservation in Children With a Disorder of Sex Development
- ClinicalTrials.gov ID
- NCT06692049
- Acronym / sponsor ID
- DSD / 2017-1164
- Conditions
- DSD, 46,XY, DSD, Ovotesticular, DSD, Sex Chromosome, Disorders of Sex Development, Disorder of Sex Development, 46,XY, Disorder of Sex Development, 46,Xy, Cbx2-Related
- Keywords
- DSD, GTC, Gonadectomy, Cryopreservation, Fertility Preservation
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 250 participants (estimated)
- Lead sponsor
- Erin RowellUniversity, hospital or other
- Collaborators
- Ann & Robert H Lurie Children's Hospital of Chicago
- Study start
- 4 Apr 2018 (actual)
- Primary completion
- 31 Dec 2030 (estimated)
- Study completion
- 31 Dec 2035 (estimated)
- First posted
- 18 Nov 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The purpose of this study is to offer gonadal tissue freezing and storage to children who are diagnosed with a disorder of sex development (DSD), who are at increased risk of infertility and certain malignancies (cancer). This study involves the storage of gonadal tissue that is being removed for medical reasons (e.g. prevention of cancer development). It includes the processing and freezing of this gonadal tissue, hopefully for potential future use. The tissue will then be stored long-term until the child wishes to try to use the tissue.
Detailed description
DSD are conditions in which there is incongruence in an individual's chromosomal, gonadal, or phenotypic sex (refers to sex as determined by an individual's internal or external genitalia and expression of secondary sex characteristics).Different DSD diagnoses have varying degrees of risk for future malignancy. The treating doctor has or will discuss with the participant the risk of developing cancer due to the child's specific diagnosis, and help decide whether this option is in the best interest of the child, and if there are other options to consider (e.g. leaving gonadal tissue in place and monitoring for development of malignancy). If the participant and family have decided to move forward with removal of gonadal tissue for this clinical reason, they will be asked if they would like to have the child participate in this study.
This study seeks to find out if removing gonadal tissue in adolescents and children at risk for losing fertility potential (the ability to have children) and who are scheduled to receive a gonadectomy (removal of gonads) for clinical purposes may preserve, or keep, their ability to have children in the future. Additionally, a primary objective of this study is to use donated research tissue to study long-term ways to preserve and restore reproductive function for children diagnosed with a DSD. Gonadal tissue cryopreservation in patients diagnosed with a DSD is still considered experimental. There have been no reported live births or pregnancies in this population following gonadal tissue cryopreservation at this time.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 10 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Disorders of Sex Development (DSD) | – | Procedure: GonadectomyThe study seeks to find out if removing gonadal tissue in adolescents and children at risk for losing fertility potential (the ability to have children) and who are scheduled to receive a gonadectomy (removal of gonads) for clinical purposes may preserve, or keep, their ability to have children in the future. Additionally, donated research tissue would be used to study long-term ways to preserve and restore reproductive function of children diagnosed with DSD |
Who may qualify
- Ages
- Up to 30 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
- Study population
- Children diagnosed with a disorder of sex development who have any risk for malignancy in their gonadal tissue or will have their gonads removed for another clinical indication
Key inclusion criteria (2 listed)
- Individual < 30 years of age
- Children diagnosed with a disorder of sex development who have any risk for malignancy in their gonadal tissue or will have their gonads removed for another clinical indication
Key exclusion criteria (5 listed)
- Pregnant children
- Patients likely to retain inherent fertility and reproductive function
- Children deemed high risk for perioperative complications
- Patients 12-18 unable to provide assent (i.e. significant psychiatric problems/cognitive delay)
- Patients 18 and older unable to provide consent (i.e. significant psychiatric problems/cognitive delay)
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| GonadectomyGonadal tissue being removed for risk of malignancy may be cryopreserved for fertility preservation | Procedure or surgery | Disorders of Sex Development (DSD) |
Primary outcome
Gonadal Tissue Cryopreservation for Fertility Preservation in Children with Disorders of Sex Development
Time frame: 3 months
The primary outcome is to evaluate the presence of viable germs cells based on histologic evaluation of the gonads for number of germ cells per high power field and to cryopreserve the tissue.
1 secondary outcome
Gonadal Tissue Cryopreservation for Fertility Preservation in Children with Disorders of Sexual Development (DSD)
Time frame: yearly, up to 20 years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 3 Sep 2026.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Erin Rowell, MD principal investigator
Ann & Robert H Lurie Children's Hospital of Chicago
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of DSD, 46,XY and DSD, Ovotesticular, run by Erin Rowell at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 2 inclusion and 5 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 3 Sep 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Sara Reyes (3122274145, FertilityPreservation@luriechildrens.org), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Gonadal Tissue Cryopreservation for Fertility Preservation in Children with Disorders of Sex Development (time frame: 3 months). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 3 Sep 2026.