Little Miss Jealous ~ Congenital Adrenal Hyperplasia

It was an early summer’s morning and Little Miss Jealous was walking down the long, narrow road envious of Little Miss Perfect. She was everything Little Miss Jealous ever wanted to be: tall, slim and beautiful! Little Miss Jealous didn’t like the way she looked; she had excess hair and spots on her face, which always made her feel upset. Consequently, she always felt embarrassed in public, frightened that people may mistake her for Mr. Moustache.

Therefore, she decided to get help and went to see Mr. Doctor. She explained her symptoms and he decided to carry out further investigations. He sent her for a blood test, looking in particular for the hormone 17-hydroxyprogesterone, electrolyte and glucose level. Throughout the week, he sent her for a corticotrophin stimulation test, an ultrasound and also took a sample of her cells for genetic analysis to confirm the diagnosis. Mr. Doctor then called Little Miss Jealous back into the surgery to discuss her results.

‘Is everything okay?’ panicked Little Miss Jealous.

‘Yes, Little Miss, nothing to be worried out. You have a genetic condition called congenital adrenal hyperplasia, CAH for short. It is autosomal recessive, and one child in every 18,000 born in Great Britain has this condition. It occurs in boys aswell as girls, and often it is more severe in their case,’ explained Mr. Doctor.

‘What does this mean?’ said Little Miss Jealous, spitefully.

‘It is nothing of particular concern in your case. CAH causes a deficiency of the enzyme 21-hydroxylase, which results in a lack of cortisol production and thus may lead to aldosterone deficiency and androgen excess. A high level of androgen causes excess hair and spots, which is the cause in your situation,’ explained Mr. Doctor calmly.

Little Miss Jealous continued to turn green with envy. ‘Why me?’ she asked. ‘I just want to look pretty and not have all this extra hair on my face. It makes me look manly. It’s not fair!’

‘Oh, my dear, it’s nothing to get jealous about. It’s in your genes, and you have the mild non-classic form. This is more common in individuals with CAH and is also the primary cause of high androgen levels. However, there is also a classic form, which is much worse. This severe type is sub-classified into salt-sparing and salt-losing, of which the latter can be very dangerous if it is not carefully controlled. The severity is dependent on the amount of 21-hydroxylase deficiency that you have,’ continued Mr. Doctor.

‘Oh’, groaned Little Miss Jealous, coming to terms with the fact that she is not suffering alone.

‘Additionally, some females with classic CAH are born with ambiguous genitalia, which may be even more confusing for them. However, some boys with this type of CAH may have no signs at birth except subtly hyperpigmentation and possible penile enlargement. Futhermore, the age at diagnosis depends on the severity of aldosterone deficiency,’ clarified Mr. Doctor. ‘Patients with salt-losing CAH typically present at 7-15 days after birth with vomiting, weight loss and dehydration. It can be quite distressing, Little Miss Jealous. The condition is dependent on the extent of enzyme deficiency, exclusive to each individual suffering from the condition. Whilst some may be unaffected, others may have apparent symptoms. You are thus one of the patients with non-classic CAH, presenting with hyperandrogenism early in adulthood.’

‘Can it be controlled, Mr. Doctor?’ asked Little Miss Jealous calmly, her envy reducing as she began to understand the spectrum of the condition.

‘The management is dependent on the age of presentation, type and severity of CAH. Classic CAH requires management with daily tablets of hydrocortisone and fludrocortisone. Salt-losing patients often need sodium chloride supplementation and an increased dose of hydrocortisone, especially during periods of febrile illness, surgery and trauma. These patients should always carry a medical emergency identification to specify that they have adrenal insufficiency. Non-classic CAH patients like you do not always need treatment, only those with symptoms. Hydrocortisone is indicated in patients with androgen excess, and sometimes adjuvant anti-androgen therapy or the oral contraceptive pill may also be beneficial. Treatment may also be stopped when the symptoms resolve,’ reassured Mr. Doctor.

Little Miss Jealous’ eyes lit up with happiness. She imagined not having to worry about having extra hair and spots on her face and was pleased she came to the doctor for help.

‘Now now, Little Miss Jealous, it is important for me to tell you a few things so you don’t become envious of others. Some CAH patients do not always grow to their optimum height, as excess steroid can suppress growth. There is also a risk of obesity, hypertension and diabetes, so remember to maintain your balanced diet and continue to exercise! Some affected females may also suffer from infertility, but do not worry, as this is not relevant in your case. I am going to give you medication so we can manage your symptoms better and you will feel happier. Does this sound okay?’ asked Mr. Doctor.

‘Yes,’ cheered Little Miss Jealous. ‘Thank you, Mr. Doctor! Thank you!!’

‘No problem, Little Miss Jealous. Always remember, we are all unique and being different isn’t a bad thing!’

Little Miss Jealous smiled and waved goodbye to Mr. Doctor. As she walked back down the long, narrow road, she realised she had nothing to be jealous about – she was just as beautiful as Little Miss Perfect!

Shrinal Kotecha

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