Overview
- Background
Endocrine glands give off hormones. Researchers want to learn more about the disorders that affect these glands in children. These disorders might be caused by changes in genes. Genes contain DNA, which is the blueprint of how a cell works. Researchers want to identify the genes involved in endocrine and metabolic disorders. This might help develop new ways to diagnose and treat the disorders.
- Objective
To study the inheritance of endocrine or metabolism disorders.
- Eligibility
Children ages 3month-18 with known or suspected endocrine or metabolism disorders.
Family members ages 3months-100. They may participate in the DNA part of the study.
- Design
Participants will be screened with a review of their medical records. Their parents or guardians will allow the records to be released.
Participants will have a clinic visit. This may include a physical exam and medical history.
Parents or guardians will give their consent for the study. Participants may have tests, surgery, or other procedures to help diagnose or treat their condition. These could include:
Blood, urine, and saliva tests
Growth hormone test
Pituitary and adrenal function tests
Picture of chromosomes
Imaging tests. These may include X-ray, ultrasound, scans, or a skeletal survey.
Genetic tests
Sleep study
Medical photographs
If surgery is done, a tissue sample will be taken.
Participants may have follow-up visits for diagnosis and treatment.
Participating relatives will have one visit. This will include medical history and blood and saliva tests. The blood and saliva will be used for DNA testing.
Description
Study Description:
This protocol is designed to allow endocrine-related evaluations of children with known or suspected endocrine or metabolic disorders.
Children with endocrine or metabolic-related condition(s) who may or may not be eligible for a specific NICHD research protocol, may be evaluated under the auspices of this protocol. Standard clinically indicated laboratory or radiological studies may be performed to confirm a diagnosis or to aid in the management of the patient. In some cases, the child participant may receive medical or surgical treatment for their disorder at the National Institutes of Health (NIH) Clinical Center (CC) according to current clinical practice. Family members of children evaluated on this protocol (who have informative meiotic inheritance relationships to the proband or index case) may be enrolled in the genetic/DNA testing part of the protocol.
- Objectives
Primary Objective:
-Comprehensive evaluation of pediatric endocrine diseases and conditions as well as track natural progress of the development of such
conditions in diverse population of pediatric subjects with a known or suspected endocrine or metabolic disorder.
Secondary Objective:
-Samples for molecular genetic or WES testing
- Endpoints
Primary Endpoint:
Appraisal of number and diversity of endocrine related diagnosis of patients evaluated on this protocol.
Secondary Endpoints:
-Number of samples for molecular genetic or WES testing.
Eligibility
- INCLUSION CRITERIA:
In order to be eligible to participate in this study, an individual must meet all of the
following criteria:
- Participants with known or suspected endocrine disorder age 3 months-18 years are
eligible for this protocol.
- Relatives ages 3 months-100 years may be enrolled if clinically indicated for the
diagnosis of a proband.
EXCLUSION CRITERIA:
An individual who meets any of the following criteria will be excluded from participation
in this study:
- Lack of suspected endocrine disorders.
- Any medical, physical, psychiatric, or social conditions, which, in the opinion of the
investigators, would make participation in this protocol not in the best interest of
the patient, will exclude participation. Patients who are critically ill, unstable, or
with severe organ failure that may affect/limit the endocrine evaluation and place
unsustainable demands on Clinical Center or NICHD resources will be excluded.