Congenital Adrenal Hyperplasia
The Brazilian Addisonian Association aims to clarify with simple and non-medical language to families and patients with Congenital Adrenal Hyperplasia (CAH) about the characteristics of this pathology, based on real experiences of patients and parents of children with CAH of all types. . All the information provided here has a scientific basis and the final text was reviewed by renowned and respected endocrinologists worldwide on this subject. When searching for HAC on the internet, many articles on Addison's Disease come together, to understand their differences and similarities, here is an explanation:
Both are diseases that cause adrenal insufficiency, the difference is in the cause of these
symptoms. In CAH patients are born with the disease and their symptoms appear
in the first days of life. In Addison's disease , it usually develops
adulthood and is acquired by some other condition (infection, inflammation,
autoimmunity, surgery ...) The similarity between both is precisely in the
treatment, which is the same for both diseases, rare and difficult to diagnose
and can lead to death if not identified and treated properly.
Addison's disease is more rare than CAH and due to our needs
equivalents and common goals we are united to be stronger in the fight
for access to medications, treatment and benefits to which we are entitled.
What is Congenital Adrenal Hyperplasia?
To understand the disease it is important to understand the real meaning of this name:
HYPERPLASIA: means increased growth
ADRENAL: it is located on the kidneys (Ad-Renal: juxtaposed to the kidney) and is also called the adrenal gland. It is responsible for the production of several hormones that are essential to life and that also defend our body in situations of danger and physical stress:
Adrenaline , Cortisol , Aldosterone and sex hormones ( Testosterone ).
CONGENITAL: name given to every disease that had its origin at birth, that is, it was inherited from the parents' genetics.
So, Congenital Adrenal Hyperplasia (CAH) means: "increased growth of the adrenal gland from birth".
Types of CAH
Classical Form: This is the type that presents the symptoms of adrenal insufficiency even at birth. In the last decade in Brazil this disease has been included in the tests of the Pezinho Test.
It is divided into two types:
Classical Salt-Wasting Form: It is the most common and most severe form, affecting approximately 70% of children with CAH, as aldosterone secretion is minimal, salt is lost, which leads to hyponatremia, hyperkalemia and increased plasma renin activity. , evolving to rapid dehydration and weight loss.
Classical Simple Virilizing Form: In female patients, their genitalia (sexual organ) are virilized (masculinized) - this aesthetic modification still occurs inside the mother's womb and, at birth, it may appear that the child is male, despite having no testicles and having an uterus and ovaries on ultrasound examination. Cortisol synthesis is impaired, which results in increased androgen activity, but there is sufficient enzyme activity to maintain aldosterone production at normal levels or only slightly decreased.
Non-Classical: In this type of CAH, symptoms do not appear immediately at birth, can manifest in childhood, adolescence or adulthood and are less complicated than classic-type symptoms.
In people with CAH their production of cortisol is insufficient and therefore needs to be replaced by drugs that replace the lack of cortisol (hydrocortisone and / or cortisone acetate).
In patients with CAH classic salt-wasting form, patients have also altered the production of another hormone very important for the maintenance of life: aldosterone, it controls the amount of water and minerals (sodium and potassium) in our body, without it we lose salt in the urine and dehydrate quickly.
In cases of salt loss, the replacement of the insufficient hormone aldosterone is done through medication (fludrocortisone) and the supplementation of sodium through the intake of table salt by babies in the breastfeeding phase. Once they start eating salty food, the salt in their meals is sufficient for adequate replacement.
Considering that the hormones cortisol and aldosterone are essential for the maintenance of life, if the disease is not diagnosed in time, patients die.
To prevent this from happening it is important to collect the foot test, available in practically all Brazilian states. (We will talk about it in a specific topic).
In the absence of the heel prick test, the diagnosis of CAH in girls with the Simple Virilizing form can be made earlier due to the evident alteration of the genitalia, which occurs due to excess testosterone, but in boys the diagnosis may be later, as the effects of the excess of the hormone testosterone (virilization) are not so perceived.
However, the newborn screening Test is able to diagnose this form of CAH as well.
Why does the skin darken and the genitals become virile?
CAH is a genetic disease that, depending on the degree of impairment, can manifest itself inside the mother's belly. The fetus, when conceived, already has the genetic load defined as being male or female, what will develop the child's external genital organs is the presence of the sexual hormones present in the baby.
The adrenal gland is also responsible for the production of the sex hormones androstenedione and testosterone . As the production of cortisol is reduced, the brain increases the production of a hormone called ACTH that stimulates the increase in the production of adrenal hormones, so by genetic defect cortisol does not increase its production, but sex hormones do. This explains why the penis of a boy with CAH is slightly enlarged at birth and girls have masculine characteristics in their genitals due to the excess production of testosterone still inside the mother's belly and when they are born.
Depending on the degree of impairment of the genitalia, they need sexual confirmation by means of genetic (karyotype) or clinical (ultrasound) tests for biological confirmation of the male or female gender before registration with the civil registry office. It is very important that every baby with a male genital aspect has the testicles palpable in the scrotum. A male-looking genitalia without palpable testicles should be investigated for CAH.
Darkened skin is explained by the increase in the hormone ACTH (adrenocorticotrophic hormone) as the name says it is responsible for stimulating the adrenal to produce cortisol. It has a composition similar to melanin, which gives pigmentation to the skin, as its production is exaggerated in the bloodstream, the skin is darkened. Signs of lack of cortisol can be seen more with darkening of the folds of the hands, scars, gums and the genitalia itself.
Rapid weight loss shortly after birth is the result of a lack of cortisol and aldosterone that cause rapid dehydration and lead babies to salt loss crises.
The prognosis of the disease is directly related to early diagnosis, correct adherence to treatment, daily use of medications, periodic follow-up with the endocrinologist and special care in cases of physical stress.
The degree of ambiguity of the genitalia is directly related to the lack of cortisol and the excess of testosterone production . It can present in the girl only with enlargement of the clitoris (mild virilization) up to a male genitalia, without a palpable testicle (and with female internal organs).
Dr. Andrea Prader, a Swiss pediatric endocrinologist, developed a virilization scale in the 1950s (Prader, A. 1954), called the Prader virilization scale.
Prader virilization scale
The general objectives of the treatment of CAH are to supply the deficiencies of the hormones affected by the deficiency of the hormones (cortisol and aldosterone) in order to prevent the crisis of adrenal insufficiency and to reduce the excess of androgenic steroids.
In this way it is possible to prevent the loss of salt and promote adequate growth and puberty, with preservation of the potential of final height. However, excess glucocorticoid (hydrocortisone or prednisone) should be avoided in the treatment of the disease. Treatment is indicated for all patients with the classic form of the disease.
In childhood, preference should be given to short-acting glucocorticoids orally, hydrocortisone. The recommended solution is to dilute a macerated tablet in a small amount of liquid immediately before administration. Unfortunately, the formulation is in tablet form and requires this care with dilution. In addition, another difficulty is the lack of commercialization of the medication in Brazil, requiring its preparation in handling pharmacies, which can lead to quality control problems with the potential to alter the effectiveness.
For patients with the classic salt-wasting form, treatment includes in addition to glucocorticoid replacement, mineralocorticoid replacement (fludrocortisone). For children on exclusive breastfeeding or using infant formulas, sodium chloride ( table salt) diluted in water and offered between feedings. The amount of sodium in breast milk / formulas is insufficient to meet the demand of these patients.
Patients and family members should be instructed on prevention, recognition of symptoms and changes in treatment during stressful situations. If oral intake is not compromised, during stressful situations (eg: temperature> 37.5ºC, surgery, major trauma), the dose of glucocorticoid should be doubled or tripled while the stress lasts (infectious or inflammatory conditions, small procedures). If oral intake is compromised, intravenous or intramuscular hydrocortisone should be administered. The dose of fludrocortisone does not need to be increased in stressful situations. Patients and caregivers should be instructed on how to identify the disease, such as the use of an identification card , bracelet or necklace describing that they are on chronic corticosteroid therapy due to CAH. In addition, there must be an alert for priority assistance in emergency situations.