Skip to main content
SpringerLink
Log in

Adrenal Steroid Metabolism Disorders

  • Chapter
Inborn Metabolic Diseases

  • 283 Accesses

Summary

Congenital adrenal hyperplasia is a classic metabolic disease. It encompasses almost the totality of defects of the adrenal steroidogenesis. Recent advances have been due to the finding that the 21-hydroxylase enzyme is located within the human leukocyte antigen (HLA) complex on chromosome 6. This allowed genetic studies, and prompted prenatal diagnosis, which could be extended with steroid measurements in amniotic fluid. Molecular biology is now providing new patterns of steroidogenic p450 cytochromes and will probably allow a better understanding of many clinical and biological variants. Treatment has remained largely unchanged, but long-term evaluations provide new guidelines for surgical genital repair, corticoid therapy, and psychological support. Prenatal diagnosis and eventually prenatal treatment are major tools to reduce the risk of sexual ambiguity in females. Finally, besides the classical forms, a whole set of late diagnosed or even nonclinical forms have been described in children and adults. The other disorders of adrenal steroid synthesis are briefly discussed.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 74.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Bonaccordi AC, Adler I, Figueiredo JG (1987) Male infertility due to congenital adrenal hyperplasia: testicular biopsy findings, hormonal evaluation, and therapeutic results in three patients. Fertil Steril 47: 664–670

    Google Scholar 

  2. Grumbach MM, Conte FA (1985) Disorders of sexual differentiation. In: Wilson JD, Foster DW (eds) Williams textbook of endocrinology, 7th edn. Saunders, Philadelpha, pp 312–401

    Google Scholar 

  3. Miller WL (1988) Gene conversions, deletions, and polymorphism in congenital adrenal hyperplasia. Am J Hum Genet 42: 4–7

    PubMed  CAS  Google Scholar 

  4. New M1, White PC, Pang S, Dupont B, Speiser PW (1989) The adrenal hyperplasias. In: Scriver CR, Beaudet AL, Sly WS, Valle D (eds) The metabolic basis of inherited disease, 6th edn. McGraw-Hill, New York, pp 1881–1918

    Google Scholar 

  5. White MC, New M1, Dupont B (1987) Congenital adrenal hyperplasia. N Engl J Med 316: 1519–1524, 1580–1586

    Google Scholar 

  6. Josso N, Fortier-Beaulieu M, Fauré C (1969) Genitography in intersexual states. A review of 86 cases, with new criteria for the study of the uro-genital sinus. Acta Endocrinol (Copenh) 62: 165–180

    CAS  Google Scholar 

  7. Kuttenn F, Couillin F, Girard F, et al. (1985) Late-onset adrenal hyperplasia in hirsutism. N Engl J Med 313: 224–231

    Article  PubMed  CAS  Google Scholar 

  8. Sizonenko PC, Schindler AM, Kohlberg IJ, Paunier L (1972) Gonadotropins, testosterone and estrogen levels in relation to ovarian morphology in 11-beta-hydroxylase deficiency. Acta Endocrinol (Copenh) 71: 539–550

    CAS  Google Scholar 

  9. Rutgers JL, Young R, Scully RE (1988) The testicular “tumor” of the adrenogenital syndrome. A report of six cases and review of the literature on testicular masses in patients with adrenocortical disorders. Am J Surg Pathol 12: 503–513

    Google Scholar 

  10. Wischusen J, Baker HWG, Hudson B (1981) Reversible male infertility due to congenital adrenal hyperplasia. Clin Endocrinol 14: 571–577

    Article  CAS  Google Scholar 

  11. Speiser PW, Dupont B, Rubinstein P, Piazza A, Kastelan A, New MI (1985) High frequency of nonclassical steroid 21-hydroxylase deficiency. Am J Hum Genet 37: 650–667

    PubMed  CAS  Google Scholar 

  12. Donohoue PA, van Dop C, McLean RH, White PC, Jospe N, Migeon CJ (1986) Gene conversion in salt-losing congenital adrenal hyperplasia with absent complement C4B protein. J Clin Endocrinol Metab 62: 995–1002

    Article  PubMed  CAS  Google Scholar 

  13. Zadik Z, Kahana L, Kaufman H, Benderli A, Hochberg Z (1984) Salt loss in hypertensive form of congenital adrenal hyperplasia (11 ß-hydroxylase deficiency). J Clin Endocrinol Metab 58: 384–387

    Article  PubMed  CAS  Google Scholar 

  14. Bongiovanni AM (1984) Congenital adrenal hyperplasia due to ß-hydroxysteroid dehydrogenase deficiency. Pediatr Adolesc Endocrinol 13: 72–82

    Google Scholar 

  15. Pang S, Levine SL, Stoner E, et al. (1983) Nonsalt-losing congenital adrenal hyperplasia due to 3 ß-hydroxysteroid dehydrogenase deficiency with normal glomerulosa function. J Clin Endocrinol Metab 56: 808–818

    Article  PubMed  CAS  Google Scholar 

  16. Pang S, Lerner AJ, Stoner E, et al. (1985) Late onset adrenal 3 ß-hydroxysteroid dehydrogenase deficiency. 1. A cause of hirsutism in pubertal and post-pubertal women. J Clin Endocrinol Metab 60: 428–439

    Google Scholar 

  17. Degenhart HJ (1984) Prader’s syndrome (congenital disorders of adrenal hyperplasia). Pediatr Adolesc Endocrinol 13: 125–144

    Google Scholar 

  18. Mantero F, Scaron C (1984) Enzymatic defects of steroidogenesis: 17 a-dehydroxylase. Pediatr Adolesc Endocrinol 13: 83–94

    Google Scholar 

  19. Zachmann M, Prader A (1984) 17,20-Desmolase deficiency. Pediatr Adolesc Endocrinol 13: 95–109

    Google Scholar 

  20. Ulick S (1984) Selective defects in the biosynthesis of aldosterone. In: New MI, Levine LS (eds) Adrenal disease in childhood. Karger, Basel, p 145

    Google Scholar 

  21. Hugues IA, Winter JSD (1976) The application of a serum 17OH-progesterone radioimmunoassay to the diagnosis and management of congenital adrenal hyperplasia. J Pediatr 88: 766–773

    Article  Google Scholar 

  22. Young MC, Robinson JA, Read GF, Riad-Fahmy D, Hugues IA (1988) 17OH-Progesterone rhythms in congenital adrenal hyperplasia. Arch Dis Child 63: 617–623

    Google Scholar 

  23. Zerah M, Pang S, New MI (1987) Morning salivary 17-hydroxyprogesterone is a useful screening test for nonclassical 21-hydroxylase deficiency. J Clin Endocrinol Metab 65: 227–232

    Article  PubMed  CAS  Google Scholar 

  24. Madan K, Shoemaker J (1980) XY females with enzyme deficiencies of steroid metabolism: a brief review. Hum Genet 53: 291

    Article  PubMed  CAS  Google Scholar 

  25. Virdi NK, Rayner PH, Rudd BT, Green A (1987) Should we screen for congenital adrenal hyperplasia? A review of 117 cases. Arch Dis Child 62: 659–662

    Article  PubMed  CAS  Google Scholar 

  26. Forest MG, Bethuel H, Couillin P, Boué A, David M et al. (1981) Prenatal diagnosis of congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency by steroid analysis in the amniotic fluid of mid-pregnancy: comparison with HLA typing in 17 pregnancies at risk for CAH. Prenat Diagn 1: 197–207

    Article  PubMed  CAS  Google Scholar 

  27. Hugues IA, Dyas J, Riad-Fahmy D, Laurence KM (1987) Prenatal diagnosis of congenital adrenal hyperplasia: reliability of amniotic fluid steroid analysis. J Med Genet 24: 344–347

    Article  Google Scholar 

  28. Pang S, Pollack MS, Loo M, et al. (1985) Pitfalls of prenatal diagnosis of 21 hydroxylase deficiency congenital adrenal hyperplasia. J Clin Endocrinol Metab 61: 89–97

    Article  PubMed  CAS  Google Scholar 

  29. Mornet E, Boue J, Raus-Demay M, et al. (1986) First trimester prenatal diagnosis of 21-hydroxylase deficiency by linkage analysis of HLA-DNA probes and by 17-hydroxyprogesterone determination. Hum Genet 73: 358–364

    Article  PubMed  CAS  Google Scholar 

  30. Morel Y, André J. Uring-Lambert B, Hauptmann G et al. (1989) Rearrangements and point mutations of P450c21 genes are distinguished by five restriction endonuclease haplotypes identified by a new probing strategy in 57 families with congenital adrenal hyperplasia. J Clin Invest 83: 527–536

    Article  PubMed  CAS  Google Scholar 

  31. Rosier A, Weshler N, Leiberman E, Hochberg Z, Weidenfeld J et al (1988)11 Beta-hydroxylase deficiency congenital adrenal hyperplasia; update of prenatal diagnosis. J Clin Endocrinol Metab 66: 830–838

    Google Scholar 

  32. Hugues IA (1988) Management of congenital adrenal hyperplasia. Arch Dis Child 63: 1399–1404

    Article  Google Scholar 

  33. Rappaport R, Limai JM (1977) Linear growth and suppressive effects of hydrocortisone and 9 β-fluorohydrocortisone in long term therapy in congenital adrenal hyperplasia. In: Lee PA, Plotnick LP, Kowarski AA, Migeon CJ (eds) Congenital adrenal hyperplasia. University Park Press, Baltimore, pp 263–272

    Google Scholar 

  34. Hugues IA, Wilton A, Lole CA, Gray OP (1979) Continuing need for mineralocorticoid therapy in salt-losing congenital adrenal hyperplasia. Arch Dis Child 54: 350–355

    Article  Google Scholar 

  35. Rappaport R, Cornu G, Royer P (1968) Statural growth in congenital adrenal hyperplasia. J Pediatr 73: 760–766

    Article  PubMed  CAS  Google Scholar 

  36. Guest R, Rappaport R, Philippe F, Thibaud E (1983) Survenue de vergetures graves chez des adolescents atteints d’hyperplasie surrénale congénitale par défaut de 21-hydroxylation et traités par la dexaméthasone. Arch Fr Pediatr 40: 453–456

    PubMed  CAS  Google Scholar 

  37. Richards GE, Grumbach MM, Kaplan S, et al. (1978) The effect of long acting glucocorticoids in menstrual abnormalities in patients with virilisation congenital adrenal hyperplasia. J Clin Endocrinol Metab 47: 1208–1215

    Article  PubMed  CAS  Google Scholar 

  38. Clayton GW (1986) Patterns of growth from birth to maturity in infants and children with congenital adrenal hyperplasia. Acta Endocrinol (Copenh) 279: 295–304

    CAS  Google Scholar 

  39. DiMartino-Nardi J, Stoner E, O’Connell A, New MI (1986) The effect of treatment on final height in classical congenital adrenal hyperplasia. Acta Endocrinol (Copenh) 279: 305–314

    CAS  Google Scholar 

  40. Knorr D, Bidlingmaier F, Dörr HG, Höller W, Albert ED, Scholz S (1988) Congenital adrenal hyperplasia, diagnosis, treatment and monitoring. In: Imura I, Shizuma K, Yoshida S (eds) Progress in endocrinology. Elsevier, Amsterdam, pp 165–170

    Google Scholar 

  41. Mulaikal RM, Migeon CL, Rick JA (1987) Fertility rates in female patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency. N Engl J Med 316: 178–182

    Article  PubMed  CAS  Google Scholar 

  42. Urban MD, Lee PA, Migeon CJ (1978) Adult height and fertility in men with congenital virilizing adrenal hyperplasia. N Engl J Med 299: 1392–1396

    Article  PubMed  CAS  Google Scholar 

  43. Hendren WH, Donohoe PK (1980) Correction of congenital abnormalities of the vagina and perineum. J Pediatr Surg 15: 751–763

    Article  PubMed  CAS  Google Scholar 

  44. Nihoul Fekete C, Philippe F, Thibaud E, Rappaport R, Pellerin D (1982) Résultats à moyen et long terme de la chirurgie réparatrice des organes génitaux chez les filles atteintes d’hyperplasie congénitale virilisante des surrénales. Arch Fr Pediatr 39: 1316

    Google Scholar 

  45. Federman DD (1987) Psychosexual adjustment in congenital adrenal hyperplasia editorial. N Engl J Med 316: 209–211

    Article  PubMed  CAS  Google Scholar 

  46. David M, Forest MG (1984) Prenatal treatment of congenital adrenal hyperplasia resulting from 21-hydroxylase deficiency. J Pediatr 105: 799–803

    Article  PubMed  CAS  Google Scholar 

  47. New MI, White PC, Speiser PW, Crawford C, Dupont B (1988) Genetic disorders of adrenal hormone synthesis. In: ( mura H, Shizume K, Yoshida S (eds) Progress in Endocrinology. Elsevier Science Publishers. Amsterdam, pp 55–72

    Google Scholar 

  48. Pang S, Wallace MA, Hofman L, Thuline HC, Dorche C, Lyon IC, et al. (1988) Worldwide experience in newborn screening for classical congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Pediatrics 81: 866–874

    PubMed  CAS  Google Scholar 

  49. Dupont B, Oberfield SE, Smithwick EM, Lee TD, Levine LS (1977) Close genetic linkage between HLA and congenital adrenal hyperplasia (21-hydroxylase deficiency). Lancet 2: 1309–1311

    Article  PubMed  CAS  Google Scholar 

  50. Couillin P, Boué J, Bétuel H, Hors J, Gebuhrer L, Boué A (1987) Particular interest of HLA typing for genetic counselling in families with congenital adrenal hyperplasia. Haematologia 20: 25–30

    PubMed  CAS  Google Scholar 

  51. Miller MW, Levine LS (1987) Molecular and clinical advances in congenital adrenal hyperplasia. J Pediatr 111: 1–17

    Article  PubMed  CAS  Google Scholar 

  52. White PC, New MI, Dupont B (1984) HLA-linked congenital adrenal hyperplasia results from a defective gene encoding a cytochrome P-450 specific for steroid 21-hydroxylation. Proc Natl Acad Sci USA 81: 7505–7509

    Article  PubMed  CAS  Google Scholar 

  53. Matteson KJ, Phillips JA III, Miller WL, Chung BC, Orlando PJ et al (1987) P450XXI (steroid 21-hydroxylase) gene deletions are not found in family studies of congenital adrenal hyperplasia. Proc Natl Acad Sci USA 84: 5858–5862

    Article  PubMed  CAS  Google Scholar 

  54. Zachmann M, Tassinari D, Prader A (1983) Clinical and biochemical variability of congenital adrenal hyperplasia due to 11 β-hydroxylase deficiency: a study of 25 patients. J Clin Endocrinol Metab 56: 222–229

    Article  PubMed  CAS  Google Scholar 

Download references

Authors
  1. R. Rappaport
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Department of Pediatrics, University Hospital, Oostersingel 59, 9713 EZ, Groningen, The Netherlands

    John Fernandes M. D. (Professor of Pediatrics) (Professor of Pediatrics)

  2. Clinique de Génétique Médicale, Hôpital des Enfants Malades, 149, rue de Sèvres, 75743, Paris Cedex, France

    Jean-Marie Saudubray M. D. (Professor of Pediatrics) (Professor of Pediatrics)

  3. Department of Pediatrics, Tohoku University, School of Medicine, 1-1 Seiryo-machi, Sendai 980, Japan

    Keiya Tada M. D. (Professor of Pediatrics) (Professor of Pediatrics)

Rights and permissions

Reprints and permissions

Copyright information

© 1990 Springer-Verlag Berlin Heidelberg

About this chapter

Cite this chapter

Rappaport, R. (1990). Adrenal Steroid Metabolism Disorders. In: Fernandes, J., Saudubray, JM., Tada, K. (eds) Inborn Metabolic Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-02613-7_34

Download citation

  • DOI: https://doi.org/10.1007/978-3-662-02613-7_34

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-662-02615-1

  • Online ISBN: 978-3-662-02613-7

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics

Search

Navigation