Prospective Cohort of Transitional Urology Patients
Spina BifidaMyelomeningocele4 moreA transitional Urology database was created in parallel with National Spina Bifida registry to follow patients with complex congenital urogenital anomalies and be able to prospectively evaluate them. The investigators obtained the standardized questionnaires to collect long-term data regarding patients' genitourinary status including urine and fecal continence, sexuality, fertility, and pelvic health.
Congenital Uterine Anomalies: Identifying Cancer Associations and Genetic and Environmental Factors...
Congenital Uterine AnomalyThe purpose of this research study is to learn more about the health outcomes associated with congenital uterine anomalies (CUAs), and the possible environmental and genetic causes of the condition. The researchers plan to investigate whether any cancer associations (with breast, renal, ovarian, vaginal and uterine cancers) exist in females with CUAs. The investigator will also investigate any environmental and genetic factors that may be responsible for causing CUAs.
GSM (Genitourinary Syndrome Of Menopause) Management In Breast Cancer Survivors
Genitourinary AbnormalityBreast Cancer Female4 moreThe impact of treatment for GSM on the quality of life will be examined for postmenopausal women (defined as last menstrual period > 1 year ago or 6 months ago with FSH >40) who have been diagnosed with breast cancer.
Subcutaneous Hydrocortisone Children With Congenital Adrenal Hyperplasia
Congenital Adrenal HyperplasiaHyperplasia11 moreThis is an open-label, non-randomized crossover design feasibility trial comparing oral hydrocortisone treatment with interval bolus delivery (pulsatile) of subcutaneous hydrocortisone via infusion pump in children with congenital adrenal hyperplasia. Eight children, ages 4-18 yrs, will have 24-hr pharmacokinetic and pharmacodynamic profiles of cortisol, 17-hydroxyprogesterone and androstenedione concentrations while on oral hydrocortisone therapy (admission 1), during an initial trial of the subcutaneous hydrocortisone pump (admission 2), and after 6 weeks of subcutaneous hydrocortisone pump treatment (admission 3). An integrated pharmacokinetic and pharmacodynamic model will be used to determine cortisol, 17-hydroxyprogesterone and androstenedione parameters to compare the duration of time subjects have these concentrations outside acceptable ranges. Funding Source - FDA OOPD
CDB-2914 for Abnormal Uterine Bleeding in Premenopausal Women
Urogenital AbnormalitiesBackground: - CDB-2914 is a hormone that blocks progesterone, which is necessary for maintaining pregnancy. In women with fibroid tumors, CDB-2914 shrank the tumors. In many cases, menstrual periods stopped during treatment. Because CDB-2914 decreased or stopped menstrual bleeding in women with fibroids, it may be able to treat abnormal periods in women without fibroids. Objectives: - To see whether CDB-2914 can treat abnormal uterine bleeding in premenopausal women. Eligibility: - Premenopausal women who have abnormal uterine bleeding that is not caused by fibroids. Design: Participants will be screened with a physical exam and medical history. They will also have blood and urine tests. An ultrasound with fluid of the uterus will test for fibroids. Uterine cells will be collected for biopsy. For the next three menstrual cycles, participants will take either CDB-2914 or a placebo. Treatment will be studied with blood tests and symptom diaries. At the end of the treatment, participants have three options. They can have surgery at the Clinical Center or have another 3 months of CDB-2914. The third option is to stop treatment at the Clinical Center. Surgery will be either uterine ablation or hysterectomy. Only women older than age 33 may have a hysterectomy. Blood and urine samples will be collected after surgery. Both surgery and further treatment participants will have followup exams. All participants will have a final followup exam 1 year after stopping treatment....
Clinical Utility of Prenatal Whole Exome Sequencing
Structural AnomaliesCardiac Anomalies6 moreThe investigator aims to examine the clinical utility of WES, including assessment of a variety of health-related and reproductive outcomes in undiagnosed prenatal cases.
Fetal Ano-genital Distance in 2D Ultrasound.
Urogenital AbnormalitiesPrenatal Disorder1 moreThe purpose of this study is to determine a threshold value of fetal anogenital distance in 2D ultrasound to differentiate male fetuses from female fetuses, starting 18 weeks of gestation and until the due date. The study also evaluates the feasibility of the measure and its interobserver variability.
Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions
WAGR SyndromeWilm's Tumor3 moreThis study will explore conditions caused by the absence of certain genes on chromosome 11. These conditions include WAGR syndrome, which is characterized by a kidney tumor called Wilm s tumor, aniridia (absence of the iris of the eye), genital and urinary abnormalities, mental retardation, and possibly other symptoms. This study will examine how the genes on chromosome 11 affect people and whether the absence of specific genes is associated with specific symptoms. Healthy normal volunteers, people with isolated aniridia, and people with WAGR or another chromosome 11 gene deletion may be eligible for this study. Participants must be at least 6 years old. Parents of patients may also participate for genetic studies. Participants undergo some or all of the following procedures, depending on whether they are a child, adult, healthy volunteer or parent of a patient: Medical history and physical examination, eye examination, blood, urine and saliva tests, electrocardiogram (EKG) and electroencephalogram (EEG) X-rays, scans and other tests to measure body composition (fat, muscle and bone development and thickness) and MRI to examine the eyes and the brain and to measure abdominal fat Ultrasound studies of the kidneys, ovaries and uterus (in females) and testes (in males) Meal tests, food diaries and food preference tests Questionnaires about eating and sleep habits, personality and character traits and responses to pain and injury Neuropsychological tests Tests of resting metabolic rate, energy expenditure and glucose (sugar) tolerance Hot and cold sensitivity tests, vibration sensitivity test, cold tolerance test and smell identification test Eye and hearing tests Nerve conduction studies and study of sensory information conduction from peripheral nerves to the spinal cord and brain Computer photography Evaluation by sub-specialists (e.g., endocrinologist, ophthalmologist, physiatrist, neurologist or others) as indicated by the patient s medical history and test results
Genetics of Wilms' Tumor and/or the Associated Conditions of Aniridia, Hemihypertrophy, and Genitourinary...
Wilms' TumorAniridiaThe goal of this clinical research study is to collect information and blood samples to try to learn why some people develop cancers and tumors, why some families have more cancers than others, and whether certain genes or regions of DNA (the genetic material of cells) affect a person's risk of getting cancer. This is an investigational study. Up to 1500 patients and family members will take part in this study. All will be enrolled at MD Anderson.
Distribution of Smooth Muscle In Dartos In The Non Conspicuous Penis
Congenital Urogenital AnomalyNon-conspicuous penis (congenital megaprepuce, occult penis) is a symptomatic malformation that includes phimosis and excessively baggy, urine-filled prepuce with alteration of the appearance of the penis. A redundant and enlarged foreskin is the main feature of this entity.This congenital anomaly is difficult to diagnose and may have association with other pathologies such as buried penis. Currently, part of the megaprepuce skin is used to correct the defect. A recent study shows that patients with this pathology and hypospadias present mostly defects in the muscle dartos. The investigators do not know the physiological bases of the megaprepuce, neither the clinical and aesthetics implications of this abnormal tissue for the patient, and how this affects the postoperative evolution. With the present study the investigators intended to answer these questions and to open paths for future research in this area.