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Natural History Study of Patients With Excess Androgen

This study is currently recruiting participants. (see Contacts and Locations)
Verified January 2014 by National Institutes of Health Clinical Center (CC)
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) ) Identifier:
First received: November 5, 2005
Last updated: November 11, 2014
Last verified: January 2014

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.

Excess Androgen
Congenital Adrenal Hyperplasia (CAH)
Familial Male-Limited Precocious Puberty (FMPP)

Study Type: Observational
Official Title: Natural History Study of Patients With Excess Androgen

Resource links provided by NLM:

Further study details as provided by National Institutes of Health Clinical Center (CC):

Estimated Enrollment: 1060
Study Start Date: October 2005
Detailed Description:

Androgen excess in childhood results in pseudoprecocious puberty, accelerated childhood growth with premature epiphyseal fusion, adult short stature, and unknown metabolic and psychological perturbations. Congenital adrenal hyperplasia (CAH) and familial male-limited precocious puberty (FMPP) are two genetic diseases that result in early childhood androgen excess, and CAH due to 21-hydroxylase deficiency is the most common cause of hyperandrogenism in childhood. This protocol will elucidate a comprehensive phenotypic profile for patients with CAH and FMPP. Data will be collected in a large cohort of patients regarding growth and development, hormonal and metabolic factors and psychological characteristics. This protocol will allow investigators to compare patients with androgen excess of different etiologies, elucidate androgen-mediated and disease-specific phenotypic characterizations, and allow the investigators to acquire further knowledge for use in the design of future therapeutic interventions.


Ages Eligible for Study:   up to 80 Years
Genders Eligible for Study:   Both
Accepts Healthy Volunteers:   No

Males with known or suspected FMPP.

Patients with known or suspected CAH due to 21-hydroxylase deficiency, 11-hydroxylase deficiency, or 3-beta-hydroxysteroid dehydrogenase deficiency. Classic and nonclassic patients are eligible.

Patients with excess androgen of unknown etiology.


Females with isolated polycystic ovary syndrome. If, following a diagnostic work-up, a patient is determined to have PCOS as the only cause of her hyperandrogenism; she will no longer be followed on this protocol.

Patients with significant nonendocrine medical conditions.

  Contacts and Locations
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its identifier: NCT00250159

Contact: Deborah P Merke, M.D. (301) 496-0718

United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike Recruiting
Bethesda, Maryland, United States, 20892
Contact: For more information at the NIH Clinical Center contact Patient Recruitment and Public Liaison Office (PRPL)    800-411-1222 ext TTY8664111010   
Sponsors and Collaborators
Principal Investigator: Deborah P Merke, M.D. National Institutes of Health Clinical Center (CC)
  More Information

Additional Information:
Additional publications automatically indexed to this study by Identifier (NCT Number):
Responsible Party: National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) ) Identifier: NCT00250159     History of Changes
Other Study ID Numbers: 060011, 06-CH-0011
Study First Received: November 5, 2005
Last Updated: November 11, 2014
Health Authority: United States: Federal Government

Keywords provided by National Institutes of Health Clinical Center (CC):
Congenital Adrenal Hyperplasia (CAH)
Familial Male Precocious Puberty (FMPP)
Insulin Resistance
Childhood Growth and Development
Congenital Adrenal Hyperplasia
Familial Male Precocious Puberty

Additional relevant MeSH terms:
Adrenal Hyperplasia, Congenital
Adrenogenital Syndrome
Adrenocortical Hyperfunction
Puberty, Precocious
Adrenal Gland Diseases
Congenital Abnormalities
Disorders of Sex Development
Endocrine System Diseases
Genetic Diseases, Inborn
Gonadal Disorders
Metabolic Diseases
Metabolism, Inborn Errors
Pathologic Processes
Steroid Metabolism, Inborn Errors
Urogenital Abnormalities
Hormones, Hormone Substitutes, and Hormone Antagonists
Pharmacologic Actions
Physiological Effects of Drugs processed this record on November 27, 2014