Prader Stage Research Articles

Congenital adrenal hyperplasia I: Gender-related behavior and attitudes in female patients and sisters

Thirty-five female patients with congenital adrenal hyperplasia (CAH) were compared to a group of 16 healthy sisters in regard to gender-related behavioral patterns, present attitudes, and plans for the future. A semi-structured interview with the subjects, ages 11 to 41 yr, and their mothers concentrated on four to five age stages. Results of retrospective data from single items as well as from several related composite scales (“interests and behavior,” “appearance,” “overall scores”) revealed significant group differences: Both in mother-assessment and self-assessment, CAH patients showed a “more masculine” orientation than their sisters, but this was far from consistent across all age stages, especially for single items. Unexpectedly, the gender-behavior differences between CAH patients and sisters did not hold for certain items and scales of “social behavior” (e.g., assertiveness, dominance, acceptance in peer groups) and, in contrast to some of the existing literature, also not for “high-energy expenditure.” With regard to expectations for the future, CAH patients had less of a “wish to have their own children” and a higher preference for “having a career versus staying at home.” Age, socioeconomic status, intelligence, and presence or absence of a sister as possibly intervening psychosocial/demographic factors could not explain the group differences in behavior. Degree of genital masculinization (Prader stages) or “onset and quality” of therapy as measures of pre- and postnatal androgenization, respectively, could also not account for the degree of the “more masculine” orientation in the CAH group. Nevertheless, the overall results are compatible with earlier findings on the masculinizing effects of prenatal androgens on behavior in humans and point to a time period after sexual differentiation of the genitalia and before birth as the most likely one for the effects of prenatal hormones on behavioral masculinization in humans.

CONGENITAL ADRENAL HYPERPLASIA (CAH): PRENATAL TREATMENT

The aim of prenatal treatment of CAH is prevention of virilization of female fetuses with 21 hydroxylase deficiency (21 OH-def.). Two mothers at risk for CAH were followed during pregnancy, according to the plan: treatment as early as possible with decadron 1 mg per day - transabdominal chorion villus biopsy (at week 11) to determine the sex - amniocentesis (at week 17) to establish (HLA types and steroids) if the fetus is affected - continued treatment to birth in affected girls. Case 1 (JLA) were treated from 9 weeks of pregnancy. The fetus turned out to be a boy, and treatment was stopped. At birth he had no signs of CAH (normal 17 OH-progesterone (17 OHP), androstenedione (Adione), testosterone, cortisol, ACTH, renin). Case 2 (MMD) was treated and studied according to the plan and the fetus was a girl, amniocentesis was performed and showed raised values for 17 OHP (30 nmol/l), Adione (4 nmol/l). She was HLA-identical to the affected sister (A3B7/A3B47) and the treatment with decadron (discontinued 5 days before the amniocentesis) was continued to birth. The adrenal function of the mother was totally suppressed (urinary cortisol < 20 nmol/24 h), but normal after birth. Study of the girl at day 1 and day 3 showed raised 17 CHP (172-123 nmol/l), Adione (19.5-91.3 nmol/l), renin (530-1824 μGU/ml), ACTH (320 pg/ml) and low aldosterone (16-29 ng/100 ml). The external genitalia showed a definitive lesser virilization (Pra-der stage 1-2) by comparison with the sister (Prader stage 4).