Genetics of Reproductive Disorders (Including Kallmann Syndrome) and Cleft Lip and/or Palate

  • End date
    Mar 10, 2030
  • participants needed
  • sponsor
    Centre Hospitalier Universitaire Vaudois
Updated on 10 July 2022
hypothalamic amenorrhea
cleft lip and palate
cleft lip
polycystic ovarian syndrome
precocious puberty
klinefelter syndrome
secondary hypogonadism
kallmann syndrome
cleft lip/palate
Accepts healthy volunteers


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:

  • improve diagnostic testing and treatments for these problems
  • develop new diagnostic tests and therapies for patients
  • enhance counseling for patients and families with reproductive disorders
  • enhance counseling for patients and families with cleft lip/palate

Condition Kallmann Syndrome, Hypogonadotropic Hypogonadism, Hypothalamic Amenorrhea, Polycystic Ovarian Syndrome, Precocious Puberty, Cleft Lip and Palate, Cleft Palate, Cleft Lip
Clinical Study IdentifierNCT01601171
SponsorCentre Hospitalier Universitaire Vaudois
Last Modified on10 July 2022


Yes No Not Sure

Inclusion Criteria

(any of the following conditions)
hypogonadotropic hypogonadism
Kallmann syndrome
adult-onset hypogonadotropic hypogonadism
hypothalamic amenorrhea
polycystic ovarian syndrome
primary gonadal failure
precocious puberty
cleft lip/palate
family members of the above groups

Exclusion Criteria

acute illness/hospitalization
pituitary tumors
iron overload (hemochromatosis)
infiltrative diseases (sarcoidosis)
chronic alcohol abuse
illicit drug use
anabolic steroid abuse
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Additional screening procedures may be conducted by the study team before you can be confirmed eligible to participate.

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If you are confirmed eligible after full screening, you will be required to understand and sign the informed consent if you decide to enroll in the study. Once enrolled you may be asked to make scheduled visits over a period of time.

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Complete your scheduled study participation activities and then you are done. You may receive summary of study results if provided by the sponsor.

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