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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.

Congenital Hypothyroidism

Congenital hypothyroidism is a partial or complete loss of function of the thyroid gland (hypothyroidism) that affects infants from birth (congenital). Congenital hypothyroidism may lead to irreversible mental retardation when left untreated during the first year of a child’s life. It can be prevented with early diagnosis through the Expanded Newborn Screening and timely treatment with medications. The thyroid gland is located at the neck and is responsible for producing thyroid hormone - which has a role in metabolism and normal brain development in early life. It starts to develop during the first 3 weeks of pregnancy and continues to develop until birth. Babies with genetic anomalies may have an underdeveloped thyroid but their brain development can still be protected by the mother’s thyroid hormone while in the womb. Mothers who are iodine deficient may develop hypothyroidism and may not have enough thyroid hormone to share with the developing fetus - making the baby at high risk of also developing congenital hypothyroidism which may lead to mental retardation.

Fruits Vegetables anti cancer

Good nutrition has always been a part of cancer prevention and supportive therapy for those who are experiencing cancer or are recovering from recent treatment. Here are vegetables and fruits with cancer protective properties that you can try to eat more or add into your diet:

1. Red
• Red colored fruits and vegetables contain lycopene which may protect against prostate cancer. Food sources include tomatoes and tomato products, papaya, pink grapefruit and watermelon.

2. Red and Purple
• Red and purple fruits and vegetables contain anthocyanins and polyphenols that help prevent cancer formation, decrease inflammation and provide antioxidant support. Food sources include berries, grapes, red wine, plums, purple cabbage and peanuts.

3. Orange
• Orange fruits and vegetables contain Alpha and beta carotene that help protect against oral, esophageal, pharynx, larynx, and lung cancers. It also helps improve the immune system. Sources include carrot, mango, pumpkin and sweet potato

G6PD Deficiency

Did you know that 1 out of 60 newborns have been diagnosed with G6PD Deficiency in the Philippines as of 2020? G6PD Deficiency is a genetic disorder that causes a deficiency of the G6PD enzyme that helps replenish substances that protect our red blood cells from oxidative damage. The lack of this enzyme makes our red blood cells prone to damage when triggered by infection, certain foods and drugs. Newborns may appear normal or healthy until they get sick or ingest a trigger food or drug. Thus, it is important to do the Expanded Newborn Screening for parents to be aware as soon as possible and to be watchful of the following symptoms:

• Paleness or yellowish discoloration of the skin
• Dizziness or Headache
• Rapid and strong heartbeats
• Weakness
• Abdominal pain
• Tea colored urine

Thyroid Cancer

Thyroid cancer is a malignant tumor of the thyroid gland which is located around your throat area. It is more common in women aged 30 - 50 years old. The people who are at risk of having this condition are those with history of childhood exposure to high energy radiation to the head and neck from X-rays and other sources and those with family history of Thyroid cancer. Symptoms include:

• A firm to hard and painless lump on the neck
• Hoarseness
• Shortness of breath
• Difficulty swallowing due to an obstructing lump around the throat
• Enlarged lymph nodes

Newborn ScreeningThe first week of October is National Newborn Screening Week as mandated by RA # 9288 or “The Newborn Screening Act of 2008”. It aims to promote early detection and management of several congenital disorders which may lead to mental retardation or death when left untreated. Early diagnosis of these diseases will prompt early treatment which can improve health outcomes and help ensure normal growth and development. Currently, we have the Expanded Newborn Screening (ENBS) which increased the screening panel of disorders from 6 to 28 conditions. ENBS is done immediately 24 hours at birth where a few drops of blood are taken from the infant’s heel and blotted on a special absorbent paper and submitted to the Newborn Screening Center (NSC) for processing. The disorders that are screened are:

Endocrine Disorders
• Congenital Hypothyroidism
• Congenital Adrenal Hyperplasia

Amino Acid Disorders
• Homocystinuria
• Hypermethioninemia / Methionine AdenosineTransferase Deficiency
• Maple Syrup Urine Disease
• Phenylketonuria
• Tyrosinemia Type I
• Tyrosinemia Type II, III