Natural History Study of Patients With Excess Androgen
|The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.|
|ClinicalTrials.gov Identifier: NCT00250159|
Recruitment Status : Recruiting
First Posted : November 7, 2005
Last Update Posted : December 2, 2022
This study will evaluate and gather information in patients with genetic causes of too much androgen (male-like hormone) in order to better understand the effects of too much androgen and describe problems associated with it. Too much androgen in childhood, if untreated, results in rapid growth and early puberty with early cessation of growth and short stature in adulthood. Too much androgen in adulthood may result in infertility, and women may have excess facial hair, acne and a more male-like appearance. Excess androgen may also affect mood and behavior and possibly the secretion of other hormones, such as insulin. Two genetic diseases that result in early childhood androgen excess are congenital adrenal hyperplasia (CAH) and familial male-limited precocious puberty (FMPP).
Patients with known or suspected CAH due to 21-hydroxylase deficiency, 11- hydroxylase deficiency, or 3-beta-hydroxysteroid dehydrogenase deficiency and males with known or suspected FMPP may be eligible for this study. Patients with both classic and non-classic CAH are eligible, and patients with androgen excess of unknown cause may be eligible.
Participants undergo the following procedures:
- Medical history and physical examination.
- Fasting blood tests for analysis of hormones, blood chemistries including blood sugar and cardiovascular risk factors such as lipids.
- Oral glucose tolerance test for patients with elevated insulin levels. For this test, a catheter (plastic tube) is placed in a vein in the patient's arm. The patient drinks a sugar-containing fluid and blood samples are collected through the catheter at intervals starting with drinking the solution, and then 30, 60 and 120 minutes after drinking the solution.
- 24-hour urine collection to measure hormone levels in the urine.
- DNA testing for patients with 21-hydroxylase deficiency to help identify the type of genetic mutation responsible for the disease.
- X-ray of the left hand to measure bone age in growing children. The x-ray is used to determine how far into puberty the child is and how much growth potential is left in the bones.
- A pelvic ultrasound in females and testicular ultrasound in males to evaluate the size and development of the gonads (ovaries in females and testes in males).
- Cognitive and psychological tests, including an IQ test and evaluation of memory, achievement and behavior.
- Other tests and evaluations based on medical need.
The schedule for these procedures varies. In a part of the study involving only patients with CAH, growing children are evaluated twice (once in childhood and once after reaching adult height), and adults are evaluated once. In another part of the study involving patients with CAH and FMPP, growing children are seen twice a year, and adults and children who have reached adult height may be seen annually. Additional visits may be scheduled if medically indicated. In this part of the study, females are asked to keep a record of their periods after their first menstrual cycle.
|Condition or disease|
|Congenital Adrenal Hyperplasia (CAH) Familial Male-Limited Precocious Puberty (FMPP)|
|Study Type :||Observational|
|Estimated Enrollment :||3000 participants|
|Official Title:||Natural History Study of Patients With Excess Androgen|
|Actual Study Start Date :||January 2, 2006|
1/CAH Patients Managed at the NIH
Patients with Congenital Adrenal Hyperplasia (CAH).
2/CAH Patients Managed by Outside Physicians
Patients with Congenital Adrenal Hyperplasia (CAH) followed by home physician post visit at NIH.
3/Relatives of Patients
Relatives (mostly parents) of patients will be genotyped. This is often necessary to establish the genotype of the patient.
Patients with Familial Male-Limited Precocious Puberty (FMPP).
5/Patients with Androgen Excess of Unknown Etiology
Patients with Androgen Excess of Unknown Etiology followed by home physician post visit at NIH.
- To elucidate a comprehensive phenotypic profile for patients with CAH and FMPP [ Time Frame: Ongoing ]Better understanding of CAH and FMPP
To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.
Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT00250159
|Contact: Deborah P Merke, M.D.||(301) email@example.com|
|United States, Maryland|
|National Institutes of Health Clinical Center||Recruiting|
|Bethesda, Maryland, United States, 20892|
|Contact: For more information at the NIH Clinical Center contact Office of Patient Recruitment (OPR) 800-411-1222 ext TTY dial 711 firstname.lastname@example.org|
|Principal Investigator:||Deborah P Merke, M.D.||Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)|