ICL

general

• family of inherited enzyme deficiencies that impair normal corticosteroid synthesis by the adrenal cortex

• most common enzyme deficiency is 21-hydroxylase deficiency (90% of cases)

• rare enzyme deficiencies resulting in CAH include 17-alpha-hydroxylase deficiency, 11-beta-hydroxylase deficiency, and 3-beta hydroxysteroid dehydrogenase deficiency

• Androgen Insensitivity Syndrome

diagnostic factors

• virilisation

• genetic predisposition

• weight loss

• failure to thrive

• vomiting

• poor feeding

• irregular menses

• infertility

• male-pattern baldness (females)

risk factors

• genetic predisposition

investigations

primary

• serum 17-hydroxyprogesterone

• rapid ACTH stimulation test

• serum cortisol

• serum 11-deoxycorticosterone

secondary

• plasma renin activity

• pelvic and adrenal ultrasound

treatment

acute: during surgery, febrile illness, or other stress

• stress dose glucocorticoid

ongoing: classical CAH form

*presenting with salt-wasting or the simple virilizing form that manifests at birth and/or in the neonatal period

• infant/child

• 1st glucocorticoid

• plus mineralcorticoid + NaCl

• adjunct growth hormone +/- gonadotrophin-releasing hormone analogue

• adjunct genital surgery

• adult

  • 1st glucocorticoid

  • 2nd mineralcorticoid

ongoing: non-classical form

*representing a less severe form of the disorder which lacks genital ambiguity, is not immediately life-threatening

• child

• • 1st glucocorticoid

  • adjunct growth hormone +/- gonadotrophin-releasing hormone analogue

  • adjunct oral contraceptive

• adult

  • 1st glucocorticoid

  • adjunct oral contraceptive

differentials

• Addison's disease

• Polycystic ovarian syndrome

• Gender dysphoria