ClinicalTrials.gov record NCT00250159

Natural History Study of Patients With Excess Androgen

Record copied from ClinicalTrials.gov: Oct 10, 2026AI summaries generated: Sep 17, 2026

Natural History Study of Patients With Excess Androgen

StatusRecruitingThe study is currently enrolling participants. Only the study team can say whether a particular person can join.
Study typeObservationalA study in which researchers do not assign participants to a treatment or other intervention. They observe or measure what happens, which may include study visits, tests, questionnaires or a review of medical records.
AgeUnder 1 month old to 99 years old
SexAll
LocationUnited States
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

This observational study collects clinical, hormonal, genetic, imaging and cognitive information from people with excess androgen, including congenital adrenal hyperplasia (CAH) and familial male-limited precocious puberty (FMPP). Procedures may include medical history and physical exam, fasting blood tests, oral glucose tolerance testing (with a short IV catheter when used), 24-hour urine collection, DNA testing, left-hand x‑ray for bone age, pelvic or testicular ultrasound, and cognitive/behavioral tests. Visit schedules vary by study group: in the CAH-only group growing children are evaluated twice (once in childhood and once after reaching adult height) and people once; in another part, growing children are seen every six months and people or those at adult height are seen yearly. Females may be asked to record menstrual periods after their first cycle.

What it is studying. Aims to describe the clinical, hormonal, metabolic, and psychological features (the phenotype) of people with CAH and FMPP and to compare features across different causes of androgen excess.

What the researchers hope to learn. Scientific goals are to elucidate a comprehensive phenotypic profile for patients with CAH and FMPP; to compare patients with different causes of androgen excess; and to collect data on growth, hormonal, metabolic, and psychological characteristics to inform future research and the design of potential therapies.

What this study is about

The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.

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.

Eligibility

The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.

Inclusion criteria

  • Males, ages 0 - 99 with known or suspected FMPP or
  • Patients (males and females, ages 0 - 99) with known or suspected (based on hormonal, clinical and/or genetic testing) CAH of any type.
  • Patients with excess androgen of unknown etiology or
  • Relatives of patients in this protocol.

Exclusion criteria

  • 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 non-endocrine medical conditions.
  • Females who are pregnant at the time of initial enrollment.

Study description and what participation involves

The study's detailed description, as published on ClinicalTrials.gov.

Detailed description from the registry

Study 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. Objective: To elucidate a comprehensive phenotypic profile for patients with CAH and FMPP.

AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴

AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.

Participants give a medical history and have a physical exam and fasting blood tests; they may also provide a 24-hour urine collection. Some people will have an oral glucose tolerance test that uses a small catheter placed in a vein and blood draws at the time of drinking the sugar drink and at 30, 60, and 120 minutes. Other procedures can include genetic (DNA) testing, a left-hand x‑ray to measure bone age in growing children, pelvic ultrasound for females or testicular ultrasound for males, and cognitive and psychological testing (for example IQ, memory, achievement and behavior). The schedule varies by group (growing children may be seen twice a year or twice over growth, adults and those at adult height may be seen annually); females may be asked to keep a record of menstrual periods after their first cycle, and additional visits or tests may be scheduled if medically indicated.

How the study is structured. This is a prospective observational cohort study. Participants are grouped by diagnosis (for example: CAH patients managed at NIH, CAH patients managed elsewhere, relatives, FMPP patients, and patients with androgen excess of unknown cause) and are followed over time without assigned experimental treatments. Scheduled visits include the tests and evaluations listed in the registry; the number and timing of visits depend on the participant's group and age.

Questions you could ask

These questions are suggestions for a conversation with the study team or your own clinician, not advice.

  • This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
  • The listed sites are in United States. Is any of them reachable for me, and does the study help with travel?
  • Which of the eligibility criteria would need to be checked with tests before I could join?

More on congenital adrenal hyperplasia

Clinical trials43 trials listed for congenital adrenal hyperplasiaEvery trial the registry lists for congenital adrenal hyperplasia, with recruitment status, phase and sites, updated from ClinicalTrials.gov.See all trials →Research updatesWhat changed in congenital adrenal hyperplasia researchLatest monthly update: September 2026. Includes: Bedtime hydrocortisone. New research summarized each month in plain language, with links to every source paper.Read the latest update →

Important dates

Study start
Jan 2, 2006
Target enrollment
3000 participants (estimated)
Last updated on registry
Sep 8, 2026
Data verified
Oct 10, 2026

Sponsor and research team

The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.

Lead sponsor
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)

Central study contact

If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.

Participating sites (2)

  • Medstar Washington Hospital CenterCompleted

    Washington D.C., District of Columbia, 20010 · United States

  • National Institutes of Health Clinical CenterRecruiting

    Bethesda, Maryland, 20892 · United States

Terms used on this page · explanations by MedicalUpdates.ai

enrollment
The number of participants a study plans to include, or has included. 'Estimated' means the planned number; 'actual' means the number who joined.
INCLUSION CRITERIA
The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
EXCLUSION CRITERIA
The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
cohort
A group of people who share a characteristic, such as a diagnosis, and are studied together. 'Prospective' means they are followed forward from enrolment; 'retrospective' means existing records are reviewed.

The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.

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