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The Genetic Investigation of Reproductive Disorders

Open (Enrolling)
Kallmann Syndrome, Hypogonadotropic Hypogonadism, Hypothalamic Amenorrhea, Polycystic Ovarian Syndrome, Precocious Puberty

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Trial Information

The Genetic Investigation of Reproductive Disorders

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. 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.

Increasing understanding of the molecular basis (genes) of inherited reproductive disorders
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

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

- 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

Type of Study:


Study Design:

Observational Model: Cohort

Outcome Measure:

rare sequence variant(s) in gene(s)

Outcome Description:

The investigators aim to discover genes associated with reproductive disorders by identifying rare sequence variants (mutations) in patients

Outcome Time Frame:

1 year (ongoing if no variants are identified)

Safety Issue:


Principal Investigator

Nelly Pitteloud, M.D.

Investigator Role:

Principal Investigator

Investigator Affiliation:

Centre Hositalier Universitaire Vaudois (CHUV)


Switzerland: Ethikkommission

Study ID:




Start Date:

March 2012

Completion Date:

March 2022

Related Keywords:

  • Kallmann Syndrome
  • Hypogonadotropic Hypogonadism
  • Hypothalamic Amenorrhea
  • Polycystic Ovarian Syndrome
  • Precocious Puberty
  • GnRH deficiency
  • hypogonadism
  • anosmia
  • infertility
  • cleft lip
  • cleft palate
  • cryptorchidism
  • microphallus
  • Amenorrhea
  • Hypogonadism
  • Polycystic Ovary Syndrome
  • Puberty, Precocious
  • Kallmann Syndrome