Classic congenital adrenal hyperplasia with virilisation and salt-wasting: from birth to the adult life

Bratisl Lek Listy. 2011;112(11):651-2.

Abstract

Aim: Our objective was to show the way the classic CAH presents after birth as a severe condition and develops to the adult life, effecting growth, height and weight, appearance, fertility, relationships and quality of life.

Case: We report the case of a 23-years-old female with the classic Congenital Adrenal Hyperplasia (CAH) from birth, diagnosed due to genital pigmentation, clitoromegaly and salt-wasting crisis, treated with glucocorticoid replacement (hydrocortisone, fludrocortisone and NaCI), followed by genital surgery, until the adult life when she continues treatment with fludrocortisone and prednisolone.

Conclusion: A treatment challenge is to effectively control the excess androgen symptoms by using the lowest possible glucocorticoid dose. Patients well-being can be accomplished by team work, adapted therapy, continues follow-up and patient's compliance (Ref. 15).

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adrenal Hyperplasia, Congenital / complications*
  • Adrenal Hyperplasia, Congenital / diagnosis
  • Adrenal Hyperplasia, Congenital / drug therapy
  • Child
  • Child, Preschool
  • Female
  • Follow-Up Studies
  • Humans
  • Hyponatremia / complications
  • Infant
  • Infant, Newborn
  • Steroid 21-Hydroxylase
  • Virilism / complications*
  • Young Adult

Substances

  • Steroid 21-Hydroxylase