Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive Disorders

  • End date
    May 26, 2024
  • participants needed
  • sponsor
    Massachusetts General Hospital
Updated on 26 January 2021
hormone levels
precocious puberty
klinefelter syndrome
secondary hypogonadism
idiopathic hypogonadotropic hypogonadism
kallmann syndrome


The aims of this study are: 1) to identify genes that play a role in human pubertal development and reproduction, 2) to characterize the phenotypic spectrum of patients with these gene defects, and 3) to discern the mode of inheritance for disorders caused by these gene defects. We are specifically interested in genes that cause Kallmann syndrome, idiopathic hypogonadotropic hypogonadism (IHH), precocious (early) puberty, and delayed puberty. Individuals do not have to travel to Boston to participate in this study.



Our work is divided into two main areas of investigation:

  1. the discovery of new, yet-undiscovered genes for conditions of early (i.e. precocious) puberty, delayed puberty, and/or absence of pubertal development (i.e. Kallmann syndrome/hypogonadotropic hypogonadism). Identification of new genes requires either a single large family or a collection of smaller families.
  2. a detailed examination of the genes already implicated in causing these conditions.

There are several other important aspects about our program:

  • This analysis will detect DNA abnormalities only in those DNA segments being screened. The turnaround time to process a sample is approximately 12-24 months. We must receive a signed consent form in order to begin analysis on a blood sample.
  • Our laboratory is located in Massachusetts General Hospital, Boston MA and is largely funded by the National Institutes of Health. We are a research laboratory and not a CLIA certified clinical laboratory.
  • Even if a participant is the only member of his/her family affected by one of the conditions mentioned above, obtaining blood samples on other family members, including parents and siblings is often important to our work.
  • It is every individual's responsibility to notify the research team he/she would like to obtain research results. Research results will be relayed to the participant's healthcare provider and must be confirmed in a clinical laboratory before being relayed to the participant or used for medical care.

Study Procedures and Risks

  • You will be asked to give approximately 3-5 tablespoons of blood for this research project. There is a risk of bruising and a very small amount of bleeding associated with blood drawing.
  • You will be asked to fill out a medical history checklist, indicating the presence or absence of clinical features that may be associated with abnormalities in pubertal development.
  • Since absence of puberty is sometimes associated with limited or no smell ability, you may be asked to try to identify the odors in a scratch and sniff test. This will take about 15 minutes.
  • Your family history can give us clues to determine how your condition was inherited. Therefore, a detailed family history, at least back to your grandparents will be obtained by a researcher.

There are no direct benefits to you from participation in this study. Some genes for this condition are known, other genes have yet to be discovered. If this study discovers what genes are responsible, it will help to further the understanding of this disorder. It is possible that the genetic cause of your reproductive disorder may be learned. This information can be shared with you at your request, as explained above.

When contacting us, please include in your message a description of your diagnosis, your pubertal history (age when you hit pubertal hallmarks, e.g., growth spurt; body hair; voice deepening and genital growth for men; menstruation and breast development for women) and your reproductive history.

Condition Kallmann's Syndrome, Hypogonadism, Klinefelter's Syndrome, Anosmia, Precocious Puberty, Delayed Puberty, Hypothalamic Amenorrhea, GnRH Deficiency, Testotoxicosis, early puberty, hypogonadotropic hypogonadism, klinefelter syndrome, delay puberty, secondary hypogonadism, kallmann syndrome
Clinical Study IdentifierNCT00494169
SponsorMassachusetts General Hospital
Last Modified on26 January 2021


Yes No Not Sure

Inclusion Criteria

Gender: Male or Female
Do you have any of these conditions: Anosmia or Hypogonadism or Klinefelter's Syndrome or Kallmann's Syndrome or GnRH Deficiency or Precocious Puberty or Hypothalamic Amenorrhea or Testot...?
Do you have any of these conditions: early puberty or GnRH Deficiency or Precocious Puberty or Delayed Puberty or Hypothalamic Amenorrhea or Testotoxicosis or delay puberty or Klinefelter...?
Do you have any of these conditions: kallmann syndrome or klinefelter syndrome or Kallmann's Syndrome or Hypothalamic Amenorrhea or Klinefelter's Syndrome or delay puberty or secondary hy...?
Do you have any of these conditions: hypogonadotropic hypogonadism or Hypogonadism or Kallmann's Syndrome or GnRH Deficiency or Hypothalamic Amenorrhea or kallmann syndrome or klinefelter...?
Failure to go through a normal, age-appropriate, spontaneous puberty, and abnormal hormone levels OR
Children with abnormally early development of puberty (Precocious Puberty) OR
Family members of these patients

Exclusion Criteria

pituitary tumor
high prolactin levels
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