An observational study in Kallmann Syndrome, Hypogonadotropic Hypogonadism and Hypothalamic Amenorrhea, sponsored by Centre Hospitalier Universitaire Vaudois. Recruiting at 1 site in Switzerland. Per ClinicalTrials.gov, last updated 2022-06-21.
Sponsored by Centre Hospitalier Universitaire Vaudois · Observational
The purpose of this study is to explore the genetic basis of reproductive disorders and cleft lip and/or palate.
The World Health Organization estimates approximately 10% of couples experience some sort of infertility problem.
In humans, puberty is the process through which we develop reproductive capacity.
The timing of puberty varies greatly in the general population and is influenced by both genetic and environmental factors. In extreme cases of pubertal delay, puberty progresses only partially or not at all and results in the clinical picture of congenital hypogonadotropic hypogonadism (CHH), either accompanied by anosmia in 50% of cases (Kallmann syndrome [KS]) or by normal sense of smell (nCHH), with a male: female ratio of 4:1.
CHH is due to GnRH deficiency (incidence 1: 4,000-10,000) and result in the failure of sexual maturation and infertility. It is genetically heterogeneous, with multiple patterns of inheritance and several associated loci. In the clinical spectrum of GnRH deficiency, CHH may also be associated with a cleft lip/palate (CL/P) in 5 to 7% of cases. However, this prevalence increases up to 40% in CHH patients carrying a mutation in a CL/P gene, suggesting a genetic overlap between CHH and CL/P.
Disorders of puberty have provided insight into the biology of reproduction and genetic technologies have enabled us to deepen understanding in this field. The focus of this study is to better understand the genetic control of puberty and human reproduction as well as its link with CL/P.
Increasing understanding of the molecular basis (genes) of inherited reproductive disorders and CL/P may enable investigators to:
23 studies on the registry are indexed under Kallmann Syndrome; 5 are open to participants now.
Browse Kallmann Syndrome studies →Centre Hospitalier Universitaire Vaudois is the lead sponsor of 208 studies on the registry; 48 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Study participants will be a convenience sample of those patients with reproductive disorders (and their family members), with or without cleft lip/palate, who are interested in participating in this genetic study.
Inclusion Criteria:(any of the following conditions)
Exclusion Criteria:
Patients with reproductive disorders with or without cleft lip/palate will be recruited for: * completion of medical questionnaire and review of medical records * family tree (including questions on reproductive disorders and cleft lip/palate) * specimen collection (DNA/RNA) from: serum/plasma/saliva/urine/buccal swab/hair follicles/sperm/skin biopsy * smell testing * hearing test * bone density * brain MRI * kidney, testicular/ovarian ultrasound
Family members of Patients will be recruited for: * completion of medical questionnaire * specimen collection (DNA/RNA) from: serum/plasma/saliva/urine/buccal swab/hair follicles/sperm/skin biopsy * smell testing
rare sequence variant(s) in gene(s)
The investigators aim to discover genes associated with reproductive disorders by identifying rare sequence variants (mutations) in patients
Time frame: 1 year (ongoing if no variants are identified)
functionality of identified rare sequence variants (mutations)
The investigators will use a variety of scientific approaches to assess the functional impact of the identified rare sequence variants (mutations)
Time frame: 1 year (following variant identification)
mode of inheritance
The investigators will examine family pedigrees and study family members to determine the inheritance patterns (how the disorder is transmitted in the family)
Time frame: 1 year (following variant identification)
genotype-phenotype correlation
The investigators will study the phenotypic spectrum (how the disorder presents clinically) in patients with identified rare sequence variants (mutations)
Time frame: 1 year (following variant identification)
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
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