More than 7000 rare diseases have been described.
So why are we exploring, congenital adrenal hyperplasia first? One of our first real-life experiences with rare diseases was congenital adrenal hyperplasia (CAH) when Child and Youth care Zimbabwe hosted its first-ever support group. So, we thought it would be a great idea for our first experience to be the first rare disease we explore with you.
1 in 16000 children globally are affected by congenital adrenal hyperplasia
The recorded number of patients in Zimbabwe is 30. But just because a disease is rare doesn’t make it insignificant or less important. It becomes even more important because this means the advocacy and support these patients usually receive is reduced. This blog and various organizations in Zimbabwe are determined to change that narrative.
Congenital adrenal hyperplasia is a group of autosomal recessive disorders characterized by a deficiency in one of the enzymes required to make a specific hormone. It refers to a group of genetic disorders that affect the adrenal glands.
Some of the important hormones normally produced are cortisol, androgens and mineralocorticoids. The most common form of CAH being deficiency of 21 hydroxylase. There is Classic CAH which can be divided into salt wasting CAH or simple virilizing CAH. Non-Classic CAH is the mildest form and usually shows up later in childhood, adolescence or adulthood. There are other different forms of CAH which we will not delve into for now.
There are various symptoms associated with CAH. Classic CAH symptoms usually include ambiguous genitalia, enlarged penis (in those assigned male at birth), premature signs of puberty, insufficient cortisol, adrenal crisis, excess androgens and altered growth. In salt wasting CAH the patients also present with dehydration, low sodium levels, and low blood pressure. Individuals with non-classic CAH may have irregular periods, masculine characteristics i.e. facial hair, and deepening of the voice.
Diagnosis can be made prenatally using amniocentesis or chorionic villous sampling. New borns can also be screened for 21 hydroxylase deficiency. Other important diagnostic techniques include a physical exam, blood and urine tests and genetic testing. Unfortunately in Zimbawe there are no genetic tests or genetic screening that is done so diagnosis is largely based on clinical findings. If tests are required samples are sent to neighbouring South Africa.
The treatment stage involves referral to a pediatric endocrinologist for example our very own Doctor Matyanga- Mureriwa who works tirelessly with CAH patients in Zimbabwe . The patients are given hormone replacement therapy and reconstructive surgery and psychological support. Infants and children are usually given a form of cortisol called hydrocortisol. Adults take hydrocortisone, prednisolone or dexamethasone. Patients can be given fludrocortisone to replace aldosterone. People with CAH are also advised to wear medical alert bracelets or necklaces to alert medical professionals. Patients with Non classic CAH may not need treatment if they are not experiencing any symptoms but they may be given low doses of cortisol . Girls who are born with ambiguous genitalia may need reconstructive surgery.
Now that we have a better understanding of CAH we can make a commitment to changing the stigma. This is a lifelong condition therefore it needs lifelong support and advocacy. Facing a condition like CAH can take a mental, psychological and financial toll on both the patients and their families. In Zimbabwe on 28 June 2022 the first CAH support group was launched. So, if you or anyone you know has been affected by this condition contact Child and Youth Care Zimbabwe at 0777510370 or visit Sally Mugabe hospital.
Remember:
From your RareZim Medics
Chiedza Mahari and Tariro Madamba
