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Congenital Adrenal hyperplasia

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Version Jan 2023

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

Name	Gene	Clinical	Investigations
21-hydroxylase def (95%)	CYP21	virilizing, ambiguous genitalia, salt loss in 70%	Glucocorticoid deficiency, mineralocorticoid deficiency and androgen excess . Low Na, High K, Low glucose, low BP. male babies show early puberty. Elevated 17-hydroxyprogesterone concentrations. Elevated Testosterone and Androstenedione, ACTH levels elevated
11B-hydroxylase def (5%)	CYP11B1	virilizing, ambiguous genitalia in females, salt retention, HTN	Low cortisol and aldosterone. Slight increase in 17(OH)progesterone. Elevated 11-deoxycortisol and testosterone and androstenedione
17-hydroxylase def (v rare)	CYP17	non-virilizing, intersex in boys. low K+ (high 11-DOC)	Low cortisol and aldosterone. Low 17(OH) progesterone, Low testosterone and DHA and androstenedione

Management: Suppress activity with Steroids, Hydrocortisone, Fludrocortisone

IV Steroids e.g. Hydrocortisonein 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

PLEASE NOTE LEGAL ADVICE: The contents are under continuing development and improvements and may contain errors of omission or fact. The official launch will be at the end of 2018. Feedback vital and always welcome at drokane at gmail.com. This is not to be used for the assessment, diagnosis or management of patients. It should not be regarded as medical advice. It is only for educational purposes. Please adhere to your local protocols. If you are unwell please seek healthcare advice from your doctor. This does not replace senior or specialist advice. If you do not accept this then please do not use the website. If you need medical advice, please consult a doctor or other appropriate medical professional. If you are a medical professional and you need advice then speak to your senior or colleagues.

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