Makindo Medical Notes.com

An inherited Enzyme defect in one or more of the pathways to produce glucocorticoids, mineralocorticoids and sex steroids can lead to failure to suppress ACTH and secondary adrenal hyperplasia and overproduction of other steroid hormones along functioning pathways.

About

• First reported in 1865 by the Neapolitan anatomist De Crecchio
• An autosomal recessive disorder
• Loss of cortisol production causes loss of negative feedback and overproduction of other adrenal steroids
• There is both deficiency and excess of certain hormones

Aetiology

• A defect in the production of cortisol/aldosterone leads to
• An Adrenocortical crises with a lack of feedback leads to increased ACTH so increased androgen production
• The commonest cause is a defect in the CYP21 gene

Virilisation

• Females are born with virilised (male looking) genitalia, so confused as to the sex of the baby may occur. The clitoris is enlarged. Ambiguous genitalia. The appearance of pubic hair at a very early age
• Boys will have an enlarged penis, small testicles, early puberty, acne and a deep voice.The appearance of pubic hair at a very early age

Clinical

Management: Suppress activity with Steroids, Hydrocortisone, Fludrocortisone

• IV Steroids e.g. Hydrocortisone in those unable to take oral steroids
• Oral Steroids e.g. dexamethasone or Prednisone to reduce CRF and ACTH and Adrenal stimulation
• Surgery may be needed to correct genital ambiguity

Adrenocortical crises

• IV N-saline, IV steroids - Hydrocortisone, IV glucose, Fludrocortisone not usually needed except if salt-losing form