MENU

congenital adrenal hyperplasiaAs of 2020, 1 in every 20,550 children are screened with Congenital Adrenal Hyperplasia (CAH) through the Expanded Newborn Screening (ENBS). Congenital Adrenal Hyperplasia is a spectrum of disorders due to a deficiency or complete lack of one of the enzymes in the cortisol synthesis pathway leading to the deficiency of the hormone cortisol and incomplete development of the genitals sometimes leading to infertility. This is a genetic disorder that is inherited when both parents are carriers of the defective gene. Newborns are suspected to have this condition when they present with the following features or symptoms:

● Ambiguous genitalia at birth where the genitals look to be somewhere in between a female or a male form
● Salt wasting due to the lack of the hormone cortisol in the first week of life: poor feeding, vomiting, weight loss or poor weight gain, excessive sleepiness, dehydration, electrolyte imbalances, and potentially fatal hypovolemia and shock if untreated or not diagnosed by newborn screen.

Through early detection or screening, newborns can be given treatment to prevent life threatening shock. Treatment includes daily glucocorticoids to replace the deficient hormone cortisol and to help normalize electrolyte imbalances. Other interventions include sodium chloride supplementation for the electrolyte imbalances and surgical options for ambiguous genitalia. Because children with CAH will be maintained on glucocorticoids, they must be monitored in terms of their hormone levels, electrolyte levels, normal growth and sexual development and annual bone age assessment because of these medications on the bones. Prolonged use of steroids or glucocorticoids as replacement for the deficient hormone cortisol may lead to the following side effects:

● Protein catabolism - Muscle wasting, thinning or decreased growth of the bones and delayed wound healing
● Decreased absorption of calcium from the diet
● Increased of nutrients such as calcium, potassium, zinc, vitamin C, nitrogen through the urine
● Sodium retention leading to increased blood pressure or early onset hypertension

These side effects can be lessened or managed through nutrition and lifestyle practices. The following are some nutrition tips for children with CAH that are maintained on glucocorticoids:

1. Maintain a diet with adequate Calcium and Vit. D or consider taking Calcium and Vitamin D supplements to prevent osteoporosis with long term use of the drug.

Prolonged glucocorticoid use affects calcium absorption and may affect bone health in the long-term leading to decreased growth or height and even weak bones with an increased risk of injury. Even though glucocorticoids negatively affect Calcium absorption, this can be overridden by taking higher amounts of calcium from calcium rich foods such as Milk, Tofu and edible fish bones from sardines and bangus. Bone health can also be maintained by taking Vitamin D rich foods such as Milk or by having adequate sunlight exposure. When dietary sources are not enough, consult your pediatrician for suitable Calcium and Vitamin D supplements for your child.

2. Eat adequate Protein to support growth and development.

Protein is the building block of bones and muscles especially during the rapid growth stage of children. Thus, by giving adequate amounts of good quality protein such as milk, chicken, fish, pork, beef or eggs or protein from plant-based sources such as beans and legumes - you will be able to counter the muscle wasting or muscle thinning effects of glucocorticoids.

3. Eat foods rich in Potassium to help maintain electrolyte imbalance.

Due to the effects of glucocorticoids, there can be increased excretion of Potassium in the urine leading to electrolyte imbalances. Low potassium levels may lead to muscle weakness and even affect normal heart rhythm. Thus, give adequate potassium from fruits, vegetables, and root crops such as banana and kamote to maintain normal potassium levels.

4. Eat foods rich in Zinc and Vitamin C to support wound healing and the immune system.

Zinc and Vitamin C work together in speeding up wound healing and in maintaining a strong immune system. Zinc rich food items include shellfish and seafood, beef, liver, pork, tokwa, chicken, fish, oatmeal, whole wheat bread, corn, beans and legumes. Vitamin C rich foods include bell pepper, guava, strawberry, broccoli, papaya, cauliflower, mango, pomelo, atis, melon, ponkan, guyabano, dalanghita, pineapple, tomato, carrot, tiesa and gisantes.

5. Eat salty foods in moderation or eat a low sodium diet.

Prolonged glucocorticoid use may lead to sodium retention which may contribute to high blood pressure or early onset hypertension in children. Thus, eat sodium rich foods such as processed food such as sausage and hams, and chips in moderation.

In general, a balanced and varied diet rich in Calcium, Vitamin D, and plenty of fruits and vegetables can help your child maintain a good nutritional status even with the use of long term glucocorticoids. By also staying physically active since early childhood can also promote bone and muscle strength, prevent glucocorticoid-induced childhood obesity and improve health status by adulthood. Prevention and awareness is key. So, remember to do the Early Newborn Screening (ENBS) soon after birth so you can take action for your child’s health and future!

/AET

References:

Newborn Screening Reference Center (2020). NBS Statistics. Newborn Screening Reference Center. Retrieved from https://www.newbornscreening.ph/index.php?option=com_content&view=article&id=83:nbs-statistics&catid=32:statistics&Itemid=57

Sewell, R. & Nokoff, N. (2022). Clinical Overview: Congenital Adrenal Hyperplasia. ClinicalKey. Retrieved from https://www.clinicalkey.com/#!/content/derived_clinical_overview/76-s2.0-B9780323755702002277.

Raymond, J. L., & Morrow, K. (2020). Krause and Mahan’s Food and the Nutrition Care Process E-Book. Elsevier Health Sciences.