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Conditions: Turner Syndrome
Interventions: Research genetic tests; Genetic
Lead sponsor: The University of Texas Health Science Center, Houston; Other
Eligibility: Female only
Enrollment: 200 participants
Timeline: 2015 – 2035
U.S. locations: 1
States / cities: Houston, Texas

Conditions: Turner's Syndrome
Interventions: Estrogen; Drug
Lead sponsor: National Institute of Neurological Disorders and Stroke (NINDS); NIH
Eligibility: 8 Years to 12 Years · Female only
Enrollment: 260 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: Started 1990
U.S. locations: 1
States / cities: Philadelphia, Pennsylvania

Conditions: Klinefelter Syndrome
Interventions: Not listed
Lead sponsor: National Human Genome Research Institute (NHGRI); NIH
Eligibility: 14 Years to 80 Years · Male only
Enrollment: 302 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2009 – 2015
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Klinefelter Syndrome, XXY Syndrome
Interventions: Testosterone gel 1%, Placebo gel; Drug
Lead sponsor: University of Colorado, Denver; Other
Eligibility: 8 Years to 18 Years · Male only
Enrollment: 48 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2012 – 2017
U.S. locations: 1
States / cities: Aurora, Colorado

Conditions: Turner Syndrome, Hypogonadism, Premature Ovarian Failure
Interventions: 17 beta estradiol; Drug
Lead sponsor: Nemours Children's Clinic; Other
Eligibility: 10 Years to 16 Years · Female only
Enrollment: 16 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2001 – 2004
U.S. locations: 1
States / cities: Jacksonville, Florida

Conditions: Turner Syndrome, Ovarian Failure, Premature, Sex Chromosome Aberrations, Menopause, Perimenopause
Interventions: Not listed
Lead sponsor: National Eye Institute (NEI); NIH
Eligibility: 18 Years and older · Female only
Enrollment: 72 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2007 – 2014
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Klinefelter Syndrome, 47,XXY, Sex Chromosome Aneuploidy, XXY Syndrome
Interventions: No intervention; Other
Lead sponsor: University of Colorado, Denver; Other
Eligibility: 12 Years to 17 Years · Male only
Enrollment: 31 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2016 – 2017
U.S. locations: 1
States / cities: Aurora, Colorado

Conditions: Cardiovascular Phenotype, Metabolic Phenotype, Hypertensive Disease, Psychological Phenotype, Audio
Interventions: Not listed
Lead sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); NIH
Eligibility: 18 Years to 99 Years · Female only
Healthy volunteers: Accepts healthy volunteers
Timeline: 2025
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Marfan Syndrome, Turner Syndrome, Ehlers-Danlos Syndrome, Loeys-Dietz Syndrome, FBN1, TGFBR1, TGFBR2, ACTA2 or MYH11 Genetic Mutation, Bicuspid Aortic Valve Without Known Family History, Bicuspid Aortic Valve With Family History, Bicuspid Aortic Valve With Coarctation, Familial Thoracic Aortic Aneurysm and Dissections, Shprintzen-Goldberg Syndrome, Other Aneur/Diss of Thoracic Aorta Not Due to Trauma, <50yo, Other Congenital Heart Disease
Interventions: Not listed
Lead sponsor: National Heart, Lung, and Blood Institute (NHLBI); NIH
Eligibility: Not listed
Enrollment: 3,706 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2007 – 2016
U.S. locations: 7
States / cities: Honolulu, Hawaii • Baltimore, Maryland • New York, New York + 3 more

Conditions: Turner Syndrome, Short Stature Homeobox Gene Mutation, Idiopathic Short Stature, Small for Gestational Age at Delivery
Interventions: Lonapegsomatropin [SKYTROFA®], Somatropin Pen Injector; Combination Product
Lead sponsor: Ascendis Pharma A/S; Industry
Eligibility: 2 Years to 17 Years
Enrollment: 186 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2029
U.S. locations: 19
States / cities: Palo Alto, California • Sacramento, California • Aurora, Colorado + 15 more

Conditions: Sex Chromosome Aneuploidy
Interventions: no intervention; Other
Lead sponsor: University of Colorado, Denver; Other
Eligibility: 0 Days to 100 Years
Enrollment: 5,000 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2022 – 2037
U.S. locations: 1
States / cities: Aurora, Colorado

Conditions: WAGR Syndrome, Wilm's Tumor, Aniridia, Urogenital Abnormalities, Mental Retardation
Interventions: Not listed
Lead sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); NIH
Eligibility: 2 Years to 99 Years
Enrollment: 197 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2008 – 2015
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Turner Syndrome
Interventions: Not listed
Lead sponsor: Children's Hospital Medical Center, Cincinnati; Other
Eligibility: 6 Years to 22 Years · Female only
Enrollment: 120 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2014 – 2017
U.S. locations: 1
States / cities: Cincinnati, Ohio

Conditions: Klinefelter Syndrome
Interventions: Testosterone Cypionate 200 Milligram/Milliliter Injectable Solution, Placebo injectable saline; Drug
Lead sponsor: University of Colorado, Denver; Other
Eligibility: 31 Days to 90 Days · Male only
Enrollment: 72 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2017 – 2021
U.S. locations: 1
States / cities: Aurora, Colorado

Conditions: Turner's Syndrome
Interventions: Norditropin, Menostar 14mcg patch, Vivelle dot 25mcg patch; Drug
Lead sponsor: University of Chicago; Other
Eligibility: 138 Months to 13 Years · Female only
Enrollment: 1 participant
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2009 – 2011
U.S. locations: 3
States / cities: Chicago, Illinois • Baltimore, Maryland • Ann Arbor, Michigan

Conditions: Prader-Willi Syndrome, Hypothalamic Obesity, Obesity/Therapy
Interventions: Tirzepatide; Drug
Lead sponsor: Grace Kim; Other
Eligibility: 18 Years to 26 Years
Enrollment: 36 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2025 – 2026
U.S. locations: 3
States / cities: Saint Paul, Minnesota • Nashville, Tennessee • Seattle, Washington

Conditions: Gonadal Dysgenesis, Turner's Syndrome
Interventions: cognitive tests and scales; Behavioral
Lead sponsor: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); NIH
Eligibility: Not listed
Enrollment: 950 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 1990 – 2004
U.S. locations: 1
States / cities: Bethesda, Maryland

Conditions: Down Syndrome, Edwards Syndrome, Patau Syndrome, Klinefelter Syndrome, Turner Syndrome, DiGeorge Syndrome, Perinatal Infections
Interventions: Observational - no intervention; Other
Lead sponsor: Progenity, Inc.; Industry
Eligibility: 18 Years and older · Female only
Enrollment: 5,000 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2015 – 2021
U.S. locations: 1
States / cities: Chattanooga, Tennessee

Conditions: Trisomy 13, Trisomy 18, Trisomy 21, Sex Chromosome Abnormalities
Interventions: Not listed
Lead sponsor: Natera, Inc.; Industry
Eligibility: 18 Years and older
Enrollment: 354 participants
Healthy volunteers: Accepts healthy volunteers
Timeline: 2013 – 2019
U.S. locations: 6
States / cities: San Carlos, California • San Diego, California • New York, New York + 2 more

Conditions: Pregnancy, Down Syndrome, Edwards Syndrome, Patau Syndrome, Turners Syndrome
Interventions: Not listed
Lead sponsor: Verinata Health, Inc.; Industry
Eligibility: 18 Years and older · Female only
Enrollment: 3,000 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 2012
U.S. locations: 26
States / cities: San Diego, California • Atlanta, Georgia • Chicago, Illinois + 22 more

Conditions: Turner Syndrome, Idiopathic Short Stature
Interventions: somatropin (rDNA); Drug
Lead sponsor: Massachusetts General Hospital; Other
Eligibility: 7 Years to 14 Years · Female only
Enrollment: 1 participant
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2005 – 2008
U.S. locations: 1
States / cities: Boston, Massachusetts

Conditions: Turner's Syndrome
Interventions: growth hormone, oxandrolone; Drug
Lead sponsor: National Institute of Neurological Disorders and Stroke (NINDS); NIH
Eligibility: 10 Years to 14 Years · Female only
Enrollment: 80 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 1999
U.S. locations: 1
States / cities: Philadelphia, Pennsylvania

Conditions: Klinefelter Syndrome
Interventions: Testicular Biopsy; Procedure
Lead sponsor: Boston Children's Hospital; Other
Eligibility: 12 Years to 25 Years · Male only
Enrollment: 15 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: Started 2013
U.S. locations: 1
States / cities: Boston, Massachusetts

Conditions: Cystic Fibrosis, Immunologic Deficiency Syndrome, Turner Syndrome, Congenital Hepatic Fibrosis, Idiopathic Non-Cirrhotic Portal Hypertension
Interventions: Not listed
Lead sponsor: National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK); NIH
Eligibility: 12 Years to 100 Years
Enrollment: 400 participants
Healthy volunteers: Healthy volunteers not accepted
Timeline: 2015 – 2029
U.S. locations: 1
States / cities: Bethesda, Maryland

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UTHealth Turner Syndrome Research Registry

Effect of Estrogen on Mental and Social Functioning in Girls With Turner's Syndrome

Adaptation Among Adolescents and Adults With Klinefelter Syndrome

Study of Psychological and Motor Effects of Testosterone in Adolescents With XXY/Klinefelter Syndrome

Estrogen Treatment (Oral vs. Patches) in Turner Syndrome

Dry Eye in Women With Turner Syndrome and Women With Premature Ovarian Failure

Cardiometabolic Profiles of Boys With Klinefelter Syndrome

Implications of Maternal 45,X Mosaicism as a Secondary Genomic Finding Following Cell-Free DNA Sequencing During Pregnancy: A Deep Phenotype Study

National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions

Trial Investigating the Efficacy and Safety of Weekly Lonapegsomatropin Compared to Daily Somatropin in Children and Adolescents With Short Stature or Growth Failure Due to Growth Hormone Sufficient Disorders

Generating Advancements Through Longitudinal Analysis in X and Y Variations (GALAXY)

Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions

Risk of Diabetes in Young Turner Syndrome Patients

TESTO: Testosterone Effects on Short-Term Outcomes in Infants With XXY

Initiating Transdermal Estradiol Therapy in Turner's Syndrome

Tirzepatide in PWS, HO and GNSO

The Effects of Estrogen on Cognition in Girls With Turner Syndrome

Whole Blood Specimen Collection From Pregnant Subjects

Multiple Gestation Study

Comparison of Aneuploidy Risk Evaluations

Study to Identify Markers of Insulin Resistance During Growth Hormone Treatment for Short Stature

Oxandrolone Compared With a Placebo on Growth Rate in Girls With Growth Hormone-Treated Turner's Syndrome

Klinefelter Fertility Preservation

Natural History of Noncirrhotic Portal Hypertension