Patient's question:
What is congenital phenylketonuria and hypothyroidism?Doctor's answer:
The diagnosis of phenylketonuria (PKU) is based on symptoms in children such as intellectual disability, yellow hair, pale skin, and delayed motor and language development, along with elevated phenylalanine levels in blood tests. It can be diagnosed by ruling out other diseases that may cause elevated phenylalanine levels. PKU is a treatable genetic metabolic disorder, and early treatment yields better outcomes. It can also be detected prenatally through newborn screening, allowing for early diagnosis, timely treatment, and prevention of the disease. For families with a child already diagnosed with PKU, if they wish to have another child, prenatal diagnosis can determine whether the fetus has PKU.Medical Advice: Hypothyroidism is a syndrome caused by a deficiency or insufficiency of thyroid hormone secretion. The causes of hypothyroidism include:
① of the thyroid gland, such as thyroiditis, excessive glandular destruction due to surgery or radioactive isotope treatment, or developmental abnormalities;
② Impaired synthesis of thyroid hormone, such as long-term iodine deficiency, long-term antithyroid drug treatment, congenital thyroid hormone synthesis disorders, or idiopathic hypothyroidism possibly caused by an autoimmune antibody (TSH receptor-blocking antibody);
③ Lesions of the pituitary or hypothalamus.
It can be classified into cretinism and myxedema based on the age of onset.
General symptoms:
- Cold intolerance
- Dry, rough, yellowish skin with little sweating
- Sparse, dry hair
- Brittle nails with cracks
- Fatigue
- Drowsiness
- Poor memory
- Reduced intelligence
- Slow reaction
- Mild anemia
- Weight gain
Special symptoms:
- Pale, waxy complexion
- Facial edema
- Dull gaze
- Swollen eyelids
- Apathetic expression
- Quiet speech
- Hoarse voice
- Mumbled speech
Cardiovascular system:
- Slow heart rate
- Weak heart sounds
- Generalized cardiac enlargement
- Often accompanied by pericardial effusion
- Post-disease myocardial fibrosis, deposition of mucopolysaccharides (PAS stain positive), and interstitial fibrosis, known as hypothyroid cardiomyopathy, etc.