European Journal of Pediatrics

, Volume 154, Issue 9, pp 708–716 | Cite as

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

  • Ursula Kuhnle
  • Monika Bullinger
  • H. P. Schwarz
Original Paper Endocrinology


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. The patients with the salt-wasting form were significantly more virilized at birth than those with the simple-virilizing form resulting in more genital operations and more complications in later life. The patients differed significantly from controls in certain aspects. They were more often single (47.8% vs 66.7%) and had less children (22.2% vs 38.6%). Patients with the salt-wasting form of congenital adrenal hyperplasia also had more problems in establishing heterosexual relationships and conceiving and bearing children. Homosexual preference was not increased. In addition, significant impairments were found with regard to psychosexual identification, but they were successful in terms of adjustment to illness and in receiving social support. The overall quality of life was not significantly different in patients and controls. Even though the patients suffered from a chronic illness and congenital malformations which significantly disturbed their body image, female identity and psychosexual identification, no effect on the overall quality of life could be detected. The differences found regarding social support and illness processing may be mechanisms which they have developed to enable them to cope. These mechanisms seem to be helpful and necessary to maintain a high level of well-being despite impairment, which is in turn reflected by a high quality of life.

Key words

Quality of life Evaluation Congenital adrenal hyperplasia Adult female patients 



attitudes towards sexuality questionnaire


body image questionnaire


congenital adrenal hyperplasia


everyday life questionnaire


Freiburger coping with illness questionnaire


Munich Life Dimension List


Psychological General Well-Being index


profile of mood states


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  1. 1.
    Aaronson N, Beckmann J (1987) The quality of life of cancer patients. Springer Verlag, Berlin Heidelberg New YorkGoogle Scholar
  2. 2.
    Appelt H, Strauß B (1989) Psychoneuroendocrinology and sexuality. Thieme, StuttgartGoogle Scholar
  3. 3.
    Baker SW (1980) Psychosexual differentiation in the human. Biol Reprod 22:61–71Google Scholar
  4. 4.
    Beckmann D, Richter HE (1975) Gießen Test (G.T.). Huber, BernGoogle Scholar
  5. 5.
    Bullinger M, Hasford J (1991) Evaluating quality-of-life measures for clinical trials in Germany. Controlled Clin Trials 12:919–1055Google Scholar
  6. 6.
    Bullinger M, Naber D (1991) Quality of life after bypass and valvular surgery: results of a prospective study. In: Rychlik P (ed) Heart failure: quality of life (Vol 1), Springer Verlag, Berlin Heidelberg New York, pp 164–188Google Scholar
  7. 7.
    Bullinger M, Pöppel E (1988) Lebensqualität in der Medizin: Schlagwort oder Forschungsansatz. Dtsch Ärzteblatt 85:679–680Google Scholar
  8. 8.
    Bullinger M, Gross M, Heinisch M, Ludwig M (1991) POMS und PGWB als Methoden zur Erfassung der Lebensqualität. In: Bullinger M, Ludwig M, Steinbüchel N (eds) Hofgrefe und Huber, Stuttgart, pp 91–99Google Scholar
  9. 9.
    Bullinger M, Kirchberger I, Steinbüchel N von (1993) Der Fragebogen Alltagsleben. Z Med Psychol 2:121–131Google Scholar
  10. 10.
    Calman KC (1987) Definitions and dimensions of quality of life. In: Aaronson NK, Beckman JH, Bernheim JL; Zittoun R (eds) The quality of life of cancer patients. Raven Press, New York, pp 1–10Google Scholar
  11. 11.
    Dittmann RW, Kappes M, Kappes ME, Berger D, Stegner H, Willig RH, Wallis H (1990) Congenital adrenal hyperplasia I: gender-related behavior and attitudes in female patients and sisters. Psychoendocrinology 15:401–420, 421-434Google Scholar
  12. 12.
    Dittmann RW, Kappes M, Kappes ME, Berger D, Meyer-Bahlburg HFL, Stegner H, Willig RH, Wallis H (1990) Congenital adrenal hyperplasia I: gender-related behavior and attitudes in female salt-wasting and simple-virilizing patients. Psychoendocrinology 15:401–420,421-434Google Scholar
  13. 13.
    Doerner G, Poppe I, Stahl F, Kolzsch J, Uebelhack RU (1991) Gene and environment-dependent neuroendocrine aetiogenesis of homosexuality and transexualism. Exp Clin Endocrinol 98 141–150Google Scholar
  14. 14.
    Donald CA, Ware JE (1982) The quantification of social contacts and social ressources. Rand cooperation, Santa Monica Report No R 2937-HHSGoogle Scholar
  15. 15.
    DuPuy HJ (1984) The psychological general well-being (PGWB) index. In: Wenger NK, Mattson ME, Furberg CD, Elinson J (eds) Assessment of quality of life in clinical trials of cardiovascular therapies. Lejacq Publishers, New York, pp 170–183Google Scholar
  16. 16.
    Ehrhardt AA, Baker SW (1977) Males and females with congenital adrenal hyperplasia. A family study of intelligence and gender-related behaviour. In: Lee PA, Plotwick LP, Kowarski AA, Migeon CJ (eds) Congenital adrenal hyperplasia. University Park Press, Baltimore, pp 447–461Google Scholar
  17. 17.
    Ehrhardt AA, Meyer-Bahlburg HFL (1981) Effects of prenatal sex hormones on gender-related behaviour. Science 211:1312–1318Google Scholar
  18. 18.
    Federman DD (1987) Psychosexual adjustment in congenital adrenal hyperplasia. N Engl J Med 316:209–211Google Scholar
  19. 19.
    Furberg CD (1985) Assessment of quality of life. In: Friedman LL, Furberg C, Furberg C, Demets D (eds) Fundamentals of clinical trials. PSG Publishing Co, Littletown, pp 161–170Google Scholar
  20. 20.
    Heinisch M, Ludwig M, Bullinger M (1991). The Munich life dimension list. In: Bullinger M, Ludwig M, Steinbüchel N von (eds) Lebensqualität bei kardiovaskulären Erkrankungen. Hofgrefe und Huber, Stuttgart, pp 73–90Google Scholar
  21. 21.
    Hurtig AL, Radhakrishnan, Reyes HM, Roesenthal IM (1983) Psychological evaluation of treated females with virilizing congenital adrenal hyperplasia. J Pediatr Surg 8:887–893Google Scholar
  22. 22.
    Klingensmith GJ, Garcia SC, Jones HW, Migeon CJ, Blizzard RM (1977) Glucocorticoid treatment of girls with congenital adrenal hyperplasia: effects on height, sexual maturation and fertility. J Pediatr 90:996–1004Google Scholar
  23. 23.
    Kuhnle U, Heinzlmann M, Bullinger M, Schwarz H-P. In: Michels HP (ed). Rehabilitation chronisch kranker Kinder und Jugendlicher. Krankheitserfahrung und Lebenssituation von Frauen mit congenitalem adrenogenitalen Syndrom. Ergebnisse eines Tiefeninterviews. Thieme, Stuttgart (in press)Google Scholar
  24. 24.
    Kuhnle U, Bullinger M, Schwarz H-P, Knorr D (1993) Partnership and sexuality in adult female patients with congenital adrenal hyperplasia. First re sults of a cross-sectional quality of life evaluation. J Steroid Biochem Molec Biol 45:123–126Google Scholar
  25. 25.
    Lazarus B (1978) Stress and coping. McGraw Hill, New YorkGoogle Scholar
  26. 26.
    Marcus H, Nusius P (1986) Possible Selves. Am Psychologist 41:954–969Google Scholar
  27. 27.
    McNair D, Lorr M, Droppelman LF (1971) EITS manual for the profile of mood states. Educational and industrial testing service. San Diego, CaliforniaGoogle Scholar
  28. 28.
    Meyer-Bahlburg (1984) Psychoendocrine-research on sexual orientation: current status and future options. In: Vries CJ De, Bruin JPC De, Uyling HBM, Comer MA (eds) Sex differences in brain, progress research in brain. Elsevier, Amsterdam, pp 375–398Google Scholar
  29. 29.
    Money J, Lewis V (1966) IQ, genetics and accelerated growth: adrenogenital syndrome. Bull Johns Hopkins Hospital 118:365–373Google Scholar
  30. 30.
    Money J, Schwartz M (1977) Dating, Romantic and nonromantic friendships, and sexuality in 17 early-treated adrenogenital females, aged 16-25. In: Lee PA, Plotnick LP, Kowarski AA (eds) Congenital adrenal hyperplasia. University Park Press, BaltimoreGoogle Scholar
  31. 31.
    Money J, Schwartz M, Lewis V (1984) Adult heterosexual status and fetal hormonal masculinisation and demasculinization: 46XX congenital virilizing adrenal hyperplasia and 46XY androgen-insensitivity syndrome compared. Psychoneuroendocrinology 9:405–414Google Scholar
  32. 32.
    Mulaikal RM, Migeon CJ, Rock JA (1987) Fertility rates in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. N Engl J Med 316:178–182Google Scholar
  33. 33.
    Muthny A, Koch U, Stegie R (1989) Freiburger Krankheitsverarbeitungsfragebogen (FKV). Beltz Test, WeinheimGoogle Scholar
  34. 34.
    Nie N, Hull CH, Steinbrenner K (1985) The statistical package for the social sciences. SPSS. McGraw Hill, OxfordGoogle Scholar
  35. 35.
    Orth DN, Kovacs WJ, DeBold CR (1992) The Adrenal Cortex. In: Wilson JD, Foster DW (eds) Williams textbook of endocrinology, 8th edn. WB Saunders, Philadelphia, pp 489–619Google Scholar
  36. 36.
    Prader A (1954) Der Genitalbefund beim Pseudohermaphroditismus femininus des kongenitalen, adrenogenitalen Syndroms. Morphologie, Häufigkeit, Entwicklung und Vererbung der verschiedenen Genitalformen. Helv Paediatr Acta 9:231–242Google Scholar
  37. 37.
    Reinisch JM, Sanders SA (1984) Prenatal gonadal steroidal influences on gender-related behaviour. In: Vries CJ De, Bruin JPC De, Uyling HBM, Comer MA (eds) Sex differences in brain, progress research in brain. Elsevier, Amsterdam, pp 407–416Google Scholar
  38. 38.
    Slijper FME (1984) Androgens and gender role behaviour in girls with congenital adrenal hyperplasia (CAH). In: Vries CJ De, Bruin JPC De, Uyling HBM, Comer MA (eds) Sex differences in brain, progress research in brain. Elsevier, Amsterdam, pp 417–422Google Scholar
  39. 39.
    Swaab DF, Fliers E (1985) A sexually dimorphic nucleus in the human brain. Science 228:1112–1115Google Scholar
  40. 40.
    Wenzel U, Schneider M, Zachmann M, Knorr-Murset G (1978) Intelligence of patients with congenital adrenal hyperplasia due to 21-hydroxylase-deficiency, their parents and unaffected siblings. Helv Paediatr Acta 13:13–16Google Scholar
  41. 41.
    White PC, New MI, Dupont B (1987) Congenital adrenal hyperplasia. New Engl J Med 316:1519–1524, 1587-1596Google Scholar
  42. 42.
    Wood-Dauphinee S, Troidl H (1989) Endpoints for clinical studies: Conventional and innovative variables. In: Troidl H, Spitzer WO, McPeek B, Mulder DS, McKneally MF (eds) Principles and practice of research strategies for surgical investigators. Springer Verlag, Berlin Heidelberg New York, pp 53–68Google Scholar

Copyright information

© Springer-Verlag 1995

Authors and Affiliations

  • Ursula Kuhnle
    • 1
  • Monika Bullinger
    • 1
  • H. P. Schwarz
    • 1
  1. 1.Institut für Medizinische PsychologieLudwig-Maximilians-Universität MünchenMünchenGermany

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