The purpose of this study is to explore the genetic basis of reproductive disorders and cleft lip and/or palate.
hypogonadotropic hypogonadism
Kallmann syndrome
adult-onset hypogonadotropic hypogonadism
hypothalamic amenorrhea
acute illness/hospitalization
pituitary tumors
iron overload (hemochromatosis)
infiltrative diseases (sarcoidosis)
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.
Case-control
Other
Not listed
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
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)
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)
genotype-phenotype correlation
The investigators will study the phenotypic spectrum (how the disorder presents clinically) in patients with identified rare sequence variants (mutations)
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Centre Hospitalier Universitaire Vaudois
Lead sponsor
Swiss National Science Foundation
Collaborator
