Fertility Assessment in Patients With Klinefelter Syndrome

NCT02461303 | Terminated DMC

• 1 other identifier: PRO15030141
• Study Type: observational
• Target: 6
• Locations: 1 country
• Sites: 2

Brief Summary

Klinefelter syndrome is characterized by primary testicular failure and progressive infertility. The objective of this study is to determine if sperm are present and can be observed in semen samples of adolescent and young adult Klinefelter patients and to determine whether the presence of sperm correlates with physical and/or clinically obtained hormone measures of pubertal development. This study was designed in order to answer the following questions:

1. 1.Is it possible to retrieve sperm for cryopreservation from semen samples of adolescent and young adult Klinefelter patients?
2. 2.Does the presence of sperm correlate with the physical and/or endocrine measures that are assessed during routine clinical evaluations of pubertal development in the KS patient population?
3. 3.If sperm retrieval is possible, what is the optimal age at which sperm retrieval should be attempted?

Conditions

Klinefelter Syndrome

Keywords

Klinefelter; Spermatogenesis; Puberty; Fertility

Outcome Measures

Primary Outcomes (1)

• Presence of sperm in semen.

  Participants will provide at least one semen sample. The presence of sperm will be analyzed. Participants will also be given the opportunity to have their semen analysed for the presence of sperm once a year. Participants will be followed until they reach age 26.

  On average once a year until the participant turns 26

Secondary Outcomes (12)

• Longitudinal correlation of developmental and endocrine parameters with the presence or absence of sperm in semen samples.

  1 time a year for an average of 7.4 years

• Correlation of developmental parameters with the presence or absence of sperm in semen samples.

  1-2 times a year for an average of 7.4 years

• Correlation of developmental parameters with the presence or absence of sperm in semen samples.

  1-2 times a year for an average of 7.4 years

• Correlation of developmental parameters with the presence or absence of sperm in semen samples.

  1-2 times a year for an average of 7.4 years

• Correlation of developmental parameters with the presence or absence of sperm in semen samples.

  1-2 times a year for an average of 7.4 years

Interventions

Counseling OTHER

Subjects will be counseled on the impact of KS on the reduced fertility potential, and about providing a semen sample for semen analysis. Semen analysis is the gold standard for fertility preservation in adult patients, but is only rarely considered by post-pubertal adolescent and young adult patients and their families. Only the semen analysis parameters will be used by the study for the comparison with physical and endocrine measures to assess whether spermatogenesis in these patients coincides with pubertal development. All potential frozen samples will be stored for the patient's future use, and samples will not be used for research experiments.

Eligibility Criteria

• Age: 12 Years - 25 Years
• Sex: male
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Adolescent and young adults males who are proven to have Klinefelter Syndrome based on prior chromosome analysis (47,XYY).

You may qualify if:

• males between the ages of 12 and 25
• diagnosed with mosaic or non-mosaic Klinefelter's Syndrome
• having bilaterally descended testes
• not having had a febrile illness within 3 months of enrollment.

You may not qualify if:

• previous treated with gonadotoxic chemotherapeutic or radiation regimen.
• psychological, psychiatric, or other conditions which prevent giving fully informed consent.

Sponsors & Collaborators

• University of Pittsburgh: lead

Study Sites (2)

Magee-Womens Hospital

Pittsburgh, Pennsylvania, 15213, United States

Location

Children's Hospital of Pittsburgh of UPMC

Pittsburgh, Pennsylvania, 15224, United States

Location

Biospecimen

Retention: SAMPLES WITH DNA

Semen samples

MeSH Terms

Conditions

Klinefelter Syndrome

Interventions

Counseling

Condition Hierarchy (Ancestors)

Sex Chromosome Disorders of Sex Development; Disorders of Sex Development; Urogenital Abnormalities; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Sex Chromosome Disorders; Chromosome Disorders; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Gonadal Disorders; Endocrine System Diseases; Hypogonadism

Intervention Hierarchy (Ancestors)

Mental Health Services; Behavioral Disciplines and Activities; Community Health Services; Health Services; Health Care Facilities Workforce and Services

Study Officials

• Kyle Orwig, PhD

  University of Pittsburgh

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE ONLY
• Time Perspective: OTHER
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Professor

Study Record Dates

• First Submitted: May 26, 2015
• First Posted: June 3, 2015
• Study Start: January 7, 2016
• Primary Completion: December 12, 2017
• Study Completion: December 12, 2017
• Last Updated: July 24, 2018

Record last verified: 2018-07

Locations

US (2)