The quality of life in adult female patients with congenital adrenal hyperplasia: a comprehensive study of the impact of genital malformations and chronic disease on female patients life.

Female patients with congenital adrenal hyperplasia have been frequently studied in order to determine the impact of prenatal androgen exposure on various aspects of psychological, psychosocial and psychosexual development. There is no published study to evaluate the impact of the genital malformation, genital operations and chronic medication on the quality of life in adult females with congenital adrenal hyperplasia. We performed a quality-of-life evaluation in adult female patients with congenital adrenal hyperplasia due to a 21-hydroxylation defect. The patients were asked to fill out questionnaires covering the four domains of health-related quality of life, namely physical state, psychological well-being, social relationships and functional capacity as well as questionnaires covering the areas of psychosexual identification and psychosocial integration. In addition a semistructured interview was performed covering medical history as well as physical, emotional, social and psychosexual development. The results were evaluated using a computerized statistical program for social sciences. Forty-five patients agreed to participate (44 could be interviewed) and their medical data did not differ from the 20 patients (medical data were available from 16 patients) who refused to participate. Median age at diagnosis was below 1 year in 54.8 of the participating patients; range was from 0 to 30 years. Of the participants, 48.6%, 34.2% and 17.2% suffered from the simple-virilizing-, salt-wasting-, and late-onset-form of congenital adrenal hyperplasia, respectively. The mean adult height was 157.8 cm, and mean weight was 56.8 kg. In 35.7% the degree of genital virilization was classified as Prader stage 3 or 4.(ABSTRACT TRUNCATED AT 250 WORDS)