Investigator's Description): The principle goal of this study is to document long-term psychosexual development as it relates to excess androgen exposure during pre- and postnatal development in women with Congenital Adrenal Hyperplasia (CAH) due to 21-hydroxylase deficiency. Additionally, the investigators plan to study the impact of genital surgery on psychosexual development in CAH women. Participants include 150 CAH women over 18 years of age. Comparison subjects include 50 unaffected female siblings or first cousins of CAH participants and 50 patients with polycystic ovary disease (PCO).
The specific aims are as follows: (1) determine degree of androgen exposure at various developmental stages in women with CAH, (2) identify factors such as timing and type of genital surgery that influence psychosexual development in women with CAH, (3) assess psychosexual development in women with CAH and (4) investigate relationships between degree of androgen exposure, timing of androgen exposure and genital surgery with psychosexual development in women with CAH. Knowledge gained from this investigation will contribute to our understanding of androgenic influences on individual differences in development and expression of cognitive and sexual behaviors. Furthermore, information obtained from this study will contribute to improved medical and surgical treatment of CAH women.

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Research Project (R01)
Project #
5R01HD037940-03
Application #
6637017
Study Section
Special Emphasis Panel (ZRG1-BCE (01))
Program Officer
Winer, Karen
Project Start
2001-04-13
Project End
2005-03-31
Budget Start
2003-04-01
Budget End
2004-03-31
Support Year
3
Fiscal Year
2003
Total Cost
$148,113
Indirect Cost
Name
Johns Hopkins University
Department
Pediatrics
Type
Schools of Medicine
DUNS #
001910777
City
Baltimore
State
MD
Country
United States
Zip Code
21218
Malouf, Matthew A; Migeon, Claude J; Carson, Kathryn A et al. (2006) Cognitive outcome in adult women affected by congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Horm Res 65:142-50
King, Jeremy A; Wisniewski, Amy B; Bankowski, Brandon J et al. (2006) Long-term corticosteroid replacement and bone mineral density in adult women with classical congenital adrenal hyperplasia. J Clin Endocrinol Metab 91:865-9
Wisniewski, Amy B; Cernetich, Amy; Gearhart, John P et al. (2005) Perinatal exposure to genistein alters reproductive development and aggressive behavior in male mice. Physiol Behav 84:327-34
Wisniewski, Amy B; Migeon, Claude J; Malouf, Matthew A et al. (2004) Psychosexual outcome in women affected by congenital adrenal hyperplasia due to 21-hydroxylase deficiency. J Urol 171:2497-501
Dayner, Jennifer E; Lee, Peter A; Houk, Christopher P (2004) Medical treatment of intersex: parental perspectives. J Urol 172:1762-5; discussion 1765