Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive Disorders
| Status: | Recruiting |
|---|---|
| Conditions: | Other Indications, Endocrine |
| Therapuetic Areas: | Endocrinology, Other |
| Healthy: | No |
| Age Range: | Any |
| Updated: | 2/7/2019 |
| Start Date: | January 1999 |
| End Date: | May 2024 |
| Contact: | Nicole DiOrio, BS |
| Email: | ReproEndoGenetics@partners.org |
| Phone: | 617-726-5384 |
Molecular Basis of Inherited Reproductive Disorders
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.
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.
Overview:
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.
Benefits:
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.
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.
Benefits:
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.
Inclusion Criteria:
- 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
We found this trial at
1
site
185 Cambridge Street
Boston, Massachusetts 02114
Boston, Massachusetts 02114
617-724-5200
Phone: 617-726-5384
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