31/07/2025
Part 5: Wrapping Up Our Series on Congenital Adrenal Hyperplasia (CAH)
Let’s bring everything together, from what CAH is to how it’s diagnosed, treated, and managed ,so we can work toward building healthier futures for affected children.
🧬 What is CAH?
CAH is a genetic disorder affecting the adrenal glands, which leads to a deficiency of cortisol and/or aldosterone and an overproduction of androgens (male hormones). It’s usually caused by mutations in the 21-hydroxylase enzyme gene.
⚠️ How Does CAH Present?
Its presentation depends on the type and severity:
Classic CAH (Severe Form):
May present in newborns with:
* Ambiguous genitalia in females
* Vomiting, dehydration, and failure to thrive
* Salt-wasting crisis (life-threatening if untreated)
* Severe electrolyte imbalance
Non-Classic CAH (Milder Form):
🧒 May present later with:
* Early puberty
* Acne, excess hair growth (hirsutism)
* Irregular periods in adolescent girls
* Infertility in adults
* Often misdiagnosed or overlooked
🧪 Diagnosis
🩺 Confirmed with:
* Elevated 17-hydroxyprogesterone levels
* Electrolyte imbalance
* ACTH stimulation test
* Genetic testing (if available)
Newborn screening (where available) can help in early detection and prompt treatment.
💊 What Treatments Are Life-Saving?
* Hydrocortisone: Replaces missing cortisol
* Fludrocortisone: Replaces aldosterone in salt-wasting types
* Salt supplementation in infants
* Regular monitoring and dose adjustments during stress, illness, or growth
For non-classic CAH, mild symptoms may be managed with low-dose glucocorticoids, and in some cases, no treatment may be needed—just observation and support.
❤️ Living a Healthy, Happy Life with CAH
Children with CAH can thrive when they receive:
* Timely diagnosis
* Consistent medication
* Regular endocrinology follow-ups
* Emotional and social support
* A stigma-free environment
* Equal access to education and opportunities
🎯 There is no cure yet, but with the right care, children with CAH can lead full, healthy lives.
Let’s continue to raise awareness, eliminate stigma, and advocate for early diagnosis and compassionate care.
Stay connected with PESK as we continue to simplify complex pediatric health topics one condition at a time.
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