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Found 45 clinical trials
Genetics of Reproductive Disorders (Including Kallmann Syndrome) and Cleft Lip and/or Palate

The purpose of this study is to explore the genetic basis of reproductive disorders and cleft lip and/or palate.

hypothalamic amenorrhea
klinefelter syndrome
cleft lip and palate
cleft lip
Accepts healthy volunteers
  • 283 views
  • 10 Jul, 2022
  • 1 location
GROWing Up With Rare GENEtic Syndromes

GROWing Up With Rare GENEtic Syndromes: Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive …

genetic disorder
diagnostic tests
premature
congenital disorders
rare diseases
  • 202 views
  • 09 Feb, 2021
  • 1 location
Inherited Reproductive Disorders

Background During puberty, children begin to develop into adults. Problems with the hormones released during puberty can affect the reproductive system. Some people have low hormone levels that severely delay or prevent puberty. Others start puberty abnormally early. Other people may have a normal puberty but develop reproductive disorders later …

klinefelter syndrome
hormone levels
gonadotropin
hormones released
hypogonadism
  • 673 views
  • 06 Apr, 2023
  • 2 locations
Swiss Austrian German Testicular Cancer Cohort Study - SAG TCCS

from therapy, including hypogonadism, metabolic syndrome, cardiovascular disease and secondary malignancies. The Swiss Austrian German Testicular Cancer Cohort Study (SAG TCCS) will comprise

renal function tests
seminoma
cardiovascular disease
metastasis
  • 76 views
  • 09 Aug, 2021
  • 1 location
Brain Imaging of Childhood Onset Psychiatric Disorders, Endocrine Disorders and Healthy Volunteers

Magnetic Resonance Imaging (MRI) unlike X-rays and CT-scans does not use radiation to create a picture. MRI use as the name implies, magnetism to create pictures with excellent anatomical resolution. Functional MRIs are diagnostic tests that allow doctors to not only view anatomy, but physiology and function. It is for …

asperger syndrome
tourette's syndrome
divalproex
schizophrenia
attention deficit disorder
  • 599 views
  • 11 Apr, 2023
  • 1 location
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford (CoRDS)

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures …

other disease
rare diseases
  • 4 views
  • 15 Jul, 2022
  • 2 locations
Minipuberty in Infants Born With Potential Hypogonadism Hypogonadotrope (MiniNO)

clitoral hypertrophy in female infants. Genetic, hormonal and environmental factors are implicated in DSD. Infants with congenital hypogonadism hypogonadotrope (CHH) can present with DSD. Evaluation of

Accepts healthy volunteers
  • 0 views
  • 04 Oct, 2022
  • 1 location
Testosterone Undecanoate Replacement Therapy in Boys With Pubertal Delay or Confirmed Hypogonadism

The absence of clinical signs of pubertal maturation, i.e. pubertal delay, is a relatively frequent reason for consultation in boys. In cases where it is necessary, the treatment to be established is the administration of testosterone with the aim of provoking the development of secondary sexual characteristics and optimizing growth. …

  • 0 views
  • 11 Oct, 2022
Endocrine, Metabolic, Cardiovascular and Immunological Aspects of Sex Chromosome Abnormalities in Relation to Genotype (EMKISCA)

Observational study of 160 patients with sex-chromosome abnormalities and 160 matched controls. Blood, fat, muscle, skin, buccal swaps, urine will be collected and analyzed for DNA, RNA and methylation patterns. The goal is to associated genotype and epigenetic changes with the phenotype of patients with sex-chromosome abnormalities. Patients participate in …

Accepts healthy volunteers
chromosomal abnormality
chromosomal disorder
  • 0 views
  • 08 Jul, 2022
  • 1 location
The Potential of Sperm Retrieved by Micro-TESE to Fertilize Vitrified/Warmed Oocytes

Couples referred for microdissection-TESE (m-TESE) due to Klinefelter's syndrome, maturation stop in the spermatogenesis, or failed retrieval of testicular spermatozoa by conventional techniques

  • 0 views
  • 08 Jun, 2022
  • 2 locations