NCT00250159

Natural History Study of Patients With Excess Androgen

Recruiting now Last updated 7 April 2026

What this trial tests

trial in Congenital Adrenal Hyperplasia (CAH) in 3,000 participants. Currently enrolling.

Timeline

2 January 2006

Quick facts

Lead sponsor	Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD)
Status	Recruiting now
Study type	OBSERVATIONAL
Enrollment	3,000
Start date	2 January 2006
Sites	2 locations across United States

Conditions studied

• Congenital Adrenal Hyperplasia (CAH) — all drugs for Congenital Adrenal Hyperplasia (CAH) →
• Familial Male-Limited Precocious Puberty (FMPP) — all drugs for Familial Male-Limited Precocious Puberty (FMPP) →

Sponsor

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

Who can join

Adults 1 Day to 99, any sex, with Congenital Adrenal Hyperplasia (CAH) or Familial Male-Limited Precocious Puberty (FMPP). Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

Publications & conference data

8 peer-reviewed publications reference this trial (live from Europe PMC):

1. Clinical characteristics of a cohort of 244 patients with congenital adrenal hyperplasia.
   Finkielstain GP, Kim MS, Sinaii N, Nishitani M, et al · · 2012 · cited 203× · PMID 22990093 · DOI 10.1210/jc.2012-2102
2. Comprehensive genetic analysis of 182 unrelated families with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
   Finkielstain GP, Chen W, Mehta SP, Fujimura FK, et al · · 2011 · cited 134× · PMID 20926536 · DOI 10.1210/jc.2010-0319
3. 11-Oxygenated Androgens Are Biomarkers of Adrenal Volume and Testicular Adrenal Rest Tumors in 21-Hydroxylase Deficiency.
   Turcu AF, Mallappa A, Elman MS, Avila NA, et al · · 2017 · cited 81× · PMID 28472487 · DOI 10.1210/jc.2016-3989
4. Junction site analysis of chimeric CYP21A1P/CYP21A2 genes in 21-hydroxylase deficiency.
   Chen W, Xu Z, Sullivan A, Finkielstain GP, et al · · 2012 · cited 66× · PMID 22156666 · DOI 10.1373/clinchem.2011.174037
5. Tenascin-X haploinsufficiency associated with Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia.
   Merke DP, Chen W, Morissette R, Xu Z, et al · · 2013 · cited 64× · PMID 23284009 · DOI 10.1210/jc.2012-3148
6. Psychiatric characterization of children with genetic causes of hyperandrogenism.
   Mueller SC, Ng P, Sinaii N, Leschek EW, et al · · 2010 · cited 58× · PMID 20807778 · DOI 10.1530/eje-10-0693
7. A Phase 2 Study of Continuous Subcutaneous Hydrocortisone Infusion in Adults With Congenital Adrenal Hyperplasia.
   Nella AA, Mallappa A, Perritt AF, Gounden V, et al · · 2016 · cited 56× · PMID 27680873 · DOI 10.1210/jc.2016-1916
8. Cardiovascular Disease Risk Factors and Metabolic Morbidity in a Longitudinal Study of Congenital Adrenal Hyperplasia.
   Torky A, Sinaii N, Jha S, Desai J, et al · · 2021 · cited 54× · PMID 33677504 · DOI 10.1210/clinem/dgab133