Working…
ClinicalTrials.gov
ClinicalTrials.gov Menu
Trial record 11 of 12 for:    "Precocious Puberty" | "Hormone Antagonists"

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. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT00250159
Recruitment Status : Enrolling by invitation
First Posted : November 7, 2005
Last Update Posted : October 29, 2019
Sponsor:
Information provided by (Responsible Party):
National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) )

Brief Summary:

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)

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.

Layout table for study information
Study Type : Observational
Actual Enrollment : 784 participants
Observational Model: Case-Only
Time Perspective: Other
Official Title: Natural History Study of Patients With Excess Androgen
Study Start Date : November 3, 2005


Group/Cohort
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 atNIH.
3/Relatives of Patients
Relatives (mostly parents) of patients will be genotyped. This is often necessary to establishthe genotype of the patient.
4/FMPP Patients
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 visitat NIH.



Primary Outcome Measures :
  1. To elucidate a comprehensive phenotypic profile for patients with CAH and FMPP [ Time Frame: Ongoing ]
    Better understanding of CAH and FMPP



Information from the National Library of Medicine

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, Learn About Clinical Studies.


Layout table for eligibility information
Ages Eligible for Study:   up to 80 Years   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Individuals with excess androgen, CAH, FMPP as well as their parents.@@@
Criteria
  • INCLUSION CRITERIA:

    1. Males , ages 0 - 99 with known or suspected FMPP.
    2. Patients (males and females, ages 0 - 99) with known (based on hormonal, clinical and/or genetic testing) CAH due to 21-hydroxylase deficiency, 11-hydroxylase deficiency, or 3-beta-hydroxysteroid dehydrogenase deficiency. Patients with both classic and nonclassic patients are eligible.
    3. Patients, (males and females, ages 0 - 99 years) with suspected (based on hormonal, clinical and/or genetic findings) CAH due to 21-hydroxylase deficiency, 11-hydroxylase deficiency, 3-beta-hydroxysteroid dehydrogenase deficiency, or a rare form of CAH (17-hydroxylase deficiency, steroid acute regulatory protein, cholesterol side-chain cleavage enzyme deficiency, P450 oxidoreductase deficiency).
    4. Patients with excess androgen of unknown etiology.
    5. Relatives of patients with CAH and FMPP.

EXCLUSION CRITERIA:

  1. 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.
  2. Patients with significant nonendocrine medical conditions.
  3. Females who are pregnant at the time of initial enrollment

Information from the National Library of Medicine

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


Locations
Layout table for location information
United States, Maryland
National Institutes of Health Clinical Center, 9000 Rockville Pike
Bethesda, Maryland, United States, 20892
Sponsors and Collaborators
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Investigators
Layout table for investigator information
Principal Investigator: Deborah P Merke, M.D. National Institutes of Health Clinical Center (CC)

Additional Information:
Publications:
Publications automatically indexed to this study by ClinicalTrials.gov Identifier (NCT Number):

Layout table for additonal information
Responsible Party: Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
ClinicalTrials.gov Identifier: NCT00250159     History of Changes
Other Study ID Numbers: 060011
06-CH-0011
First Posted: November 7, 2005    Key Record Dates
Last Update Posted: October 29, 2019
Last Verified: June 26, 2019

Layout table for additional information
Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Keywords provided by National Institutes of Health Clinical Center (CC) ( Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) ):
Congenital Adrenal Hyperplasia (CAH)
Familial Male Precocious Puberty (FMPP)
21-hydroxylast deficiency
Adrenal Insufficiency
Congenital Adrenal Hyperplasia
CAH
Familial Male Precocious Puberty
FMPP
Additional relevant MeSH terms:
Layout table for MeSH terms
Hormones, Hormone Substitutes, and Hormone Antagonists
Adrenal Hyperplasia, Congenital
Adrenogenital Syndrome
Puberty, Precocious
Hyperplasia
Pathologic Processes
Disorders of Sex Development
Urogenital Abnormalities
Congenital Abnormalities
Genetic Diseases, Inborn
Steroid Metabolism, Inborn Errors
Metabolism, Inborn Errors
Metabolic Diseases
Adrenal Gland Diseases
Endocrine System Diseases
Gonadal Disorders
Epinephrine
Racepinephrine
Androgens
Epinephryl borate
Hormones
Physiological Effects of Drugs
Molecular Mechanisms of Pharmacological Action
Adrenergic alpha-Agonists
Adrenergic Agonists
Adrenergic Agents
Neurotransmitter Agents
Adrenergic beta-Agonists
Bronchodilator Agents
Autonomic Agents