Topic 4 Management

​Management

Short term management
(emergency)

ED management:

People who have classic CAH are at risk of a life-threatening condition called adrenal crisis. This emergency needs to be treated right away. Adrenal crisis can happen within the first few days after birth. It also can be triggered at any age by an infectious illness or physical stress such as surgery.

1. DRSABCD

2. IV Fluid Resuscitation:

• 0.9% normal saline bolus: 20 mL/kg IV over 15–30 minutes
  Repeat if still hypotensive or dehydrated

• Reverses dehydration and shock from salt-wasting. Replaces sodium and restores circulatory volume. 

3. Administer Stress Dose Steroids 

• Hydrocortisone Sodium Succinate (IV)

• <6 weeks: 25 mg initial dose, then 5-10mg every 6h

• Replaces missing cortisol and provides partial mineralocorticoid support. 

Protocol

4. Treat hypoglycemia if glucose <3.3 mmol/L

• 2–5 mL/kg D10 (give 2-5mL of 10% dextrose in water/kg of body weight)

• Low blood sugar can cause seizures and coma. 

5. Treat hyperkalemia if K+ > 6.0

• Adrenal crisis leads to potassium retention (no aldosterone). Hyperkalemia can cause arrhythmias or cardiac arrest.

6. Monitor 

• Cardiac monitor, BP, oxygen - Recheck glucose, Na⁺, K⁺ every 2–4 hrs

• To detect deterioration early. Ongoing correction of fluid, glucose, and electrolytes is essential to recovery.

7. Admit to Pediatric Unit or PICU

8. Maintenance therapy

Multiple Choice

A 2-day-old neonate with suspected salt-wasting CAH presents with lethargy, hypotension, and vomiting. What is the first priority in emergency management?

• Start maintenance hydrocortisone orally

• Administer fludrocortisone IM

• Give IV 0.9% saline bolus 20 mL/kg

• Draw bloods for hormone tests before doing anything

Multiple Choice

What is the correct stress-dose steroid regimen for a neonate <6 weeks old in adrenal crisis?

• 5 mg hydrocortisone once daily

• 25 mg hydrocortisone initial dose, then 5–10 mg every 6 hours

• 100 mg hydrocortisone stat

• 10 mg prednisolone twice daily

​Long term management: Salt

• Due to 21-hydroxylase deficiency, the adrenal glands can’t produce enough aldosterone.

• Leads to salt-wasting crises: hyponatremia, hyperkalemia, dehydration.

Management

• Fludrocortisone (synthetic mineralocorticoid) to replace aldosterone.

• Salt supplementation (especially in infancy).

• Monitor:

  • Serum sodium, potassium

  • Renin levels to adjust fludrocortisone dosing.

​Long term management: Sugar

Glucocorticoid therapy; to mimic the natural circadian rhythm of cortisol (helps maintain blood sugar levels) and suppress excess ACTH to control excess androgens

• hydrocortisone (usually for kids),

• prednisolone/dexamethasone for adults

During stress --> need to manage levels with ‘stress doses’ = taking higher glucocorticoid doses temporarily.

Injectable hydrocortisone if cannot be taken orally.

​Long term management: Hormone therapy

In the baby case:
- XX indicate genetically female but with virilised external genitalia (male-like physical characteristics in a female individual)

Disrupted/delayed puberty --> estrogen therapy can support the development of secondary sex characteristics and regulate menstrual cycle

Multiple Choice

In a baby with 21-hydroxylase deficiency, which of the following is the main reason fludrocortisone is prescribed?

• A) To reduce blood sugar levels
  

• 
  B) To replace missing mineralocorticoid hormone (aldosterone)
  

• 
  C) To increase cortisol production
  

• D) To block androgen effects

Multiple Choice

Glucocorticoid therapy is a pharmacological management option for blood sugar levels, what other role can it play with an individual with CAH

• increase ACTH levels to lower androgen levels

• decrease excess ACTH to control low androgen levels

• increase ACTH levels to increase androgen levels

• decrease excess ACTH to control excess androgen levels

Multiple Choice

Why might a person with CAH and an XX karyotype need long-term estrogen therapy?

• A) To suppress immune system activity

• B) To reduce aldosterone levels

• C) To support puberty and menstrual cycle regulation

• D) To increase testosterone production

​Decisions a parent needs to make

• What gender (if any) to raise the child as

• Indication and or timing for genital tract surgeries

• Indication and or timing for hormone treatment

• Psychological wellbeing of the young person and family

• Discordance between the parents’ view on how to intervene/raise the child, and that of the multidisciplinary team may ensue

​Surgeries

When

• In the past, surgeries to ensure that genitals match the sex recorded at birth were commonplace

• Usually they took place before the child was 2 years old

• More recently, people who are intersex and advocates have spoken out against such surgeries, calling for parents to allow their children to choose whether to get surgeries/treatments and which ones when they are old enough

• Also the ACT introduced a bill in 2023 to prevent surgical alteration of sex characteristics unless with personal consent/in an emergency

​Surgeries

What was done during surgery?

Removal of gonads

Cliteroplasty → reducing the size of the clitoris

Vaginoplasty

Adverse effects of surgery

• Loss of sexual function and sensation

• Loss of fertility

• Urinary tract issues (eg. incontinence)

• Incorrect gender assignment

• Adult patients feeling unhappy and violated by surgery

• Loss of autonomy

​Surgeries

Current opinions regarding surgery

Currently according to the RACGP there’s no consensus on the need or optimal timing of many surgical interventions, but

The standard practice is not to remove gonads solely to align with the gender of childraising

The risk of germ cell tumour development needs to be considered


Hormone therapy to delay surgery

GnRH agonist therapy can be used to suppress puberty, and allow intersex children to avoid the development of secondary sexual characteristics that may distress them

Also extends the decision-making timeframe for the patient if endogenous hormone is not consistent with their gender identity

Multiple Choice

What treatment is currently indicated to support the autonomy of intersex patients?

• GnRH agonist therapy to suppress puberty

• Removal of gonads to lower risk of germ cell tumour

• Ensuring surgeries are completed by the time the child is 2 years old

• Allowing the multidisciplinary team to make decisions about the child’s treatment

Prevention

​No way to actually prevent it.

A possible way to prevent the need for feminisation surgery is Dexamethasone.

Multiple Choice

Who might the DEX treatment be applied to?

• An unaffected 46 XY foetus

• Any foetus at risk of developing CAH

• An unaffected 46 XX foetus

• An affected 46 XX foetus