Genetic Results for Intersex Conditions

Overseen By Sarah Schlegel, MD

Age: Any Age

Sex: Any

Trial Phase: Academic

Sponsor: Boston Children's Hospital

Disqualifiers: Inability to provide informed consent

No Placebo Group All trial participants will receive the active study treatment (no placebo)

Compensation: Varies

Number of Visits: Unknown

What You Need to Know Before You Apply

What is the purpose of this trial?

This trial aims to uncover genetic reasons behind certain intersex conditions, such as differences in gonadal and genital development. Participants will provide a DNA sample for testing to identify genetic variations linked to these conditions. The study also explores how receiving this genetic information, known as the "Return of Genetic Results," affects families. It suits individuals with unexplained genital or gonadal differences not clarified by standard medical evaluations. As an unphased trial, this study offers participants the chance to contribute to groundbreaking research that could enhance understanding and support for intersex conditions.

Do I need to stop taking my current medications for this trial?

The trial information does not specify whether you need to stop taking your current medications.

What prior data suggests that returning genetic results is safe for participants?

Research has shown that giving genetic results to families is generally safe. Studies on genetic testing for conditions like DSD (differences in sex development) indicate that sharing this information can help families better understand their medical situation. Obtaining genetic results poses no physical risk, as it only requires a DNA sample, such as a cheek swab or blood sample.

The main goal is to understand genetic causes and provide families with useful information. While there are no physical risks, learning about genetic information might affect emotions or decisions. Families often find this information helpful, but mixed feelings are normal. Overall, the process of sharing genetic results is well-tolerated and poses no safety concerns for physical health. ^{1 2 3 4 5}

Why are researchers excited about this trial?

Researchers are excited about the return of genetic results for intersex conditions because it offers a personalized approach to understanding these complex conditions. Unlike standard treatments that might focus on symptoms or surgical interventions, this approach provides individuals and their families with specific genetic information related to Disorders of Sex Development (DSD). This personalized genetic insight can empower families with knowledge and guide more informed decisions about medical care and management. Additionally, the process involves collecting feedback from parents, which helps researchers understand the impact of receiving genetic information and potentially improve future care strategies.

What evidence suggests that this genetic testing is effective for identifying intersex conditions?

Research has shown that genetic testing plays a crucial role in understanding intersex conditions, also known as differences of sex development (DSD). At least 75 genes have been linked to DSD in humans, with varying levels of evidence. A genetic diagnosis proves very helpful, as 97% of individuals find value in knowing the genetic cause of DSD. In this trial, participants will undergo genetic testing to identify changes in genes related to conditions like hypospadias, which affects genital development. The genetic results provided to participants can assist families and doctors in making informed decisions about care and management. ^{6 7 8 9 10}

Who Is on the Research Team?

Yee-Ming Chan, MD, PhD

Principal Investigator

Boston Children's Hospital

Are You a Good Fit for This Trial?

This trial is for individuals with unexplained abnormalities of the genitals or gonads, such as hypospadias or ambiguous genitalia. Participants must have had these conditions confirmed by physical exam or imaging and lack a diagnosis from standard clinical evaluations.

Inclusion Criteria

I have unexplained abnormalities in my reproductive organs.

Exclusion Criteria

Inability to provide informed consent

Timeline for a Trial Participant

Screening

Participants are screened for eligibility to participate in the trial

2-4 weeks

Sample Collection and Genetic Testing

Participants provide DNA samples for genetic testing related to DSD/hypospadias. Clinical records are reviewed, and a tissue bank is built.

Ongoing

Return of Genetic Results and Questionnaire Completion

Genetic results are returned to parents/guardians, who complete questionnaires at enrollment, immediately after receiving results, and 3 months later.

3 months

Follow-up

Participants are monitored for psychological and relational outcomes, such as decision regret, anxiety, and quality of life, 3 months after receiving genetic results.

3 months

What Are the Treatments Tested in This Trial?

Interventions

• Return of Genetic Results

Trial Overview The study aims to find genetic reasons behind different sex development conditions and hypospadias. It also looks at how families are affected when they receive genetic information about these conditions.

How Is the Trial Designed?

Group I: Genetic Testing Experimental Treatment 1 Intervention

Subjects will provide a DNA sample, which will be screened for variants in genes related to DSD/hypospadias. Probands/parents who wish to receive results of genetic testing related to DSD/hypospadias will receive these results directly from the research study. Parents who receive results of genetic testing for probands 17 years old or younger will complete questionnaires at the time of enrollment, right after receiving genetic results, and 3 months after receiving genetic results.

Who Is Running the Clinical Trial?

Boston Children's Hospital

Lead Sponsor

Trials

801

Recruited

5,584,000+

Citations

1. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC10598994/

Towards Improved Genetic Diagnosis of Human Differences of ... At least 75 genes have been associated with one occurrence of DSD in humans, with variable strength of evidence. In addition, anatomical phenotypes and hormonal ...

2. onlinelibrary.wiley.com onlinelibrary.wiley.com/doi/10.1111/cen.15123

Genomic testing for differences of sex development ... The perceived benefit of having a genetic diagnosis for DSD was almost unanimous (97%). Almost half (48%) of respondents reported barriers ...

3. researchgate.net researchgate.net/publication/359111444_Management_of_Hypospadias_in_Patients_with_Disorders_of_Sexual_Development_DSD

Management of Hypospadias in Patients with Disorders ... Review of recent outcome data of disorders of sex development (DSD): Emphasis on surgical and sexual outcomes. Article. Nov 2012. Justine ...

4. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC10170864/

Differences/Disorders of Sex Development: Medical ... Defined as congenital conditions in which development of chromosomal, gonadal, or anatomic sex is atypical, differences or disorders of sex development (DSDs)

5. probiologists.com probiologists.com/article/phenotype-genotype-discordance-and-disorders-of-sexual-differentiation

Phenotype-genotype discordance and disorders of sexual ... This study explores phenotype-genotype discordance within the DSD context, focusing on methodological concerns and biological explanations.

6. clinicaltrials.gov clinicaltrials.gov/study/NCT03102554

Study Details | NCT03102554 | Genetics of Differences ... The investigators will return results of genetic testing to parents/guardians of children with DSD/hypospadias and have them complete questionnaires to assess ...

7. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov/articles/PMC11973257/

Structured care after a DSD diagnosis in childhood Of the children analyzed, 28 (70%) had the diagnosis 46, XX-/46, XY-DSD or chromosomal DSD and 11 children the diagnosis CAH. For one child, the ...

8. sciencedirect.com sciencedirect.com/science/article/pii/S1521690X25000491

Care quality improvement in differences of sex development This article highlights how the categories of structure, process, and outcome quality can be applied to the care for individuals with DSD.

9. researchgate.net researchgate.net/publication/233536012_Review_of_recent_outcome_data_of_disorders_of_sex_development_DSD_Emphasis_on_surgical_and_sexual_outcomes

Emphasis on surgical and sexual outcomes | Request PDF This paper is a review of some of the recent publications regarding outcome of DSD patients, with an emphasis upon surgical and sexual ...

10. nature.com nature.com/articles/s41574-018-0010-8

Caring for individuals with a difference of sex development ... Several reports highlighting suboptimal physical and psychosexual outcomes in individuals who have a DSD led to a radical revision of ...