An observational study in Congenital Adrenal Hyperplasia (CAH) and Familial Male-Limited Precocious Puberty (FMPP), sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD). Recruiting at 2 sites in United States. Open to participants aged 1 Day to 99 Years. Per ClinicalTrials.gov, last updated 2026-11-09.
Sponsored by Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) · Observational
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:
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.
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.
101 studies on the registry are indexed under Adrenal Hyperplasia, Congenital; 28 are open to participants now.
This study's planned enrollment of 3,000 is above the median of 61 across 44 observational studies indexed under Adrenal Hyperplasia, Congenital.
Browse Adrenal Hyperplasia, Congenital studies →Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) is the lead sponsor of 422 studies on the registry; 24 are open to participants now.
Of its 14 completed or terminated interventional studies of FDA-regulated products, 11 (79%) have results posted.
Counted across the registry records on this site, refreshed daily.
Individuals with excess androgen, CAH, FMPP as well as their parents.
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Males, ages 0 - 99 with known or suspected FMPP or
EXCLUSION CRITERIA:
Patients with Congenital Adrenal Hyperplasia (CAH).
Patients with Congenital Adrenal Hyperplasia (CAH) followed by home physician post visit at NIH.
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).
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
Better understanding of CAH and FMPP
Time frame: Ongoing
Not enrolling at this site.
Plan to share: Undecided
Started Jan 2006 (actual).
How these figures are worked out, and which studies are left out of them.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
Eligibility is decided by the study team. Share this record with your doctor or contact the team directly.
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Adrenal Hyperplasia, Congenital →
Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) →