Seeking Medical Guidance for Short Stature and Rare Disorders
Adults with a stature resembling that of children should consult an endocrinologist? I am currently 44 years old and 131 cm tall. I would like to apply for a disability certificate. When I visited the endocrinology department at Taoyuan Hospital, I encountered Dr. Dong, who quest...
Dr. Jian Yingxiu Reply:
Hello: For height-related issues, please consult the "Pediatric Endocrinology Department" at major medical centers to investigate the underlying causes. Regarding the disability handbook, under the new regulations, in addition to the diagnosis made by a specialist, the ...[Read More] Seeking Medical Guidance for Short Stature and Rare Disorders
Understanding Growth Disorders in Children: Causes and Solutions
Pediatric Growth Abnormalities Dear Dr. Jian, My son is a sixth grader and stands at 179.5 cm tall. While many parents would be pleased with such height, he has several concerning issues that I would like your advice on regarding management or further medical evaluation. 1. He ...
Dr. Jian Yingxiu Reply:
In this situation, in addition to parathyroid issues, it may be necessary to consider structural abnormalities of the bones or other congenital metabolic disorders. It is recommended that you bring your previous test results and promptly visit a genetic counseling clinic at a med...[Read More] Understanding Growth Disorders in Children: Causes and Solutions
Navigating Rare Diseases: Which Specialist Should You Consult?
What should I do??? Current medications: Fosamax (Alendronate), Bio-cal (Calcium supplement) for about four to five years. Medical history: (2002) Surgery on the right ear ossicles, post-operative hearing worsened. (2003) Right femur fracture surgery. (2007) Due to poor healing f...
Dr. Lin Xuanpei Reply:
Hello, the symptoms you described in your first question may indicate not only an allergy but also the possibility of sensory abnormalities. It would be advisable to consult an experienced dermatologist for an evaluation and necessary tests. You may also ask the dermatologist if ...[Read More] Navigating Rare Diseases: Which Specialist Should You Consult?
Genetic Counseling for Carnitine Deficiency: Understanding Risks and Prevention
Genetic counseling for carnitine deficiency? Hello, during my first pregnancy, I terminated the pregnancy after the prenatal checkup revealed that the baby had a cleft lip. In my second pregnancy, the baby's chromosomal analysis showed 46,XX,t(4;14)(q33;32.3) with the mother...
Dr. Lin Xuanpei Reply:
Carnitine deficiency can be broadly categorized into two main types: secondary and primary. Secondary carnitine deficiency primarily results from inadequate dietary intake or excessive consumption due to certain specific diseases, leading to a decrease in serum carnitine levels. ...[Read More] Genetic Counseling for Carnitine Deficiency: Understanding Risks and Prevention
Understanding Elevated Bilirubin Levels in Newborns: When to Seek Further Care
Liver and gallbladder diseases The baby is currently over one month old, but has a high bilirubin level. The first test showed T-BILIRUBIN 7.2, DIRECT-BILIRUBIN 3.8; the second test showed T-BILIRUBIN 7.1, BILIRUBIN 3.6; and the third test showed T-BILIRUBIN 5.6, BILIRUBIN 3.1. I...
Dr. Xie Kaisheng Reply:
Based on your description, your baby is experiencing pathological jaundice, indicating that there is an issue with the production and processing of bilirubin in their body, which requires further evaluation and treatment. Generally, neonatal jaundice should be closely monitored u...[Read More] Understanding Elevated Bilirubin Levels in Newborns: When to Seek Further Care
Is Adrenoleukodystrophy Considered a Chronic Disease?
Regarding Adrenoleukodystrophy (ALD) Is adrenal leukodystrophy considered a chronic disease?
Dr. Jian Yingxiu Reply:
Congenital metabolic disorders (52) are classified as chronic diseases.[Read More] Is Adrenoleukodystrophy Considered a Chronic Disease?