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.
