Understanding Yellowing Eyes: Is It Related to Liver Function?
Liver function The whites of my eyes always appear yellow, and I have sufficient sleep. I wonder if this is related to liver function? I do not have antibodies for Hepatitis B, so I need to get vaccinated for Hepatitis B. I have oily skin and have been experiencing acne since gra...
Dr. Hou Jiawei reply Rare Disease
1. If the sclera (the white part of the eye) appears yellow, it is important to check for jaundice. It is recommended to have a blood test to assess liver function, as well as an ultrasound and bilirubin levels. 2. Oily skin is more prone to acne. In addition to facial cleansin...[Read More] Understanding Yellowing Eyes: Is It Related to Liver Function?
Understanding CNP Growth Factor for Achondroplasia Treatment in Taiwan
Regarding medications for achondroplasia? Hello, doctor! I would like to ask about medications for achondroplasia. I have seen other websites introducing "CNP protein growth factor" as a medication for patients with achondroplasia. I would like to know if "CNP prot...
Dr. Hou Jiawei reply Rare Disease
CNP (C-type natriuretic peptide) growth factor was proposed in 2005 by a research team led by Professor Kazuhisa Nakao at Kyoto University, based on experiments conducted on mice, suggesting it may help individuals with achondroplasia to increase height. This drug has not yet bee...[Read More] Understanding CNP Growth Factor for Achondroplasia Treatment in Taiwan
Understanding Congenital Adrenal Hypoplasia: Key Questions and Testing Options
Congenital Adrenal Hyperplasia Thank you, Dr. Hou, for your previous response. I have the following questions: 1. The physician at National Taiwan University informed me that the genes and chromosomes are normal. If this condition is caused by genetic and chromosomal factors, sho...
Dr. Hou Jiawei reply Rare Disease
1. This disease typically has normal chromosomes and is caused by single-gene abnormalities, with more common (to be tested first) and less common (testing for corresponding genes after the more common ones are found to be normal) genetic variations. 2. Sometimes, blood tests for...[Read More] Understanding Congenital Adrenal Hypoplasia: Key Questions and Testing Options
How Often Should You Assess Adrenal Function in Congenital Adrenal Insufficiency?
Congenital Adrenal Hyperplasia (CAH) How often should adrenal function assessments be performed?
Dr. Hou Jiawei reply Rare Disease
Congenital adrenal hypoplasia can be caused by deletions of the DAX-1 gene on the X chromosome or the SF1 gene on chromosome 9. After pharmacological treatment, adjustments to the medication dosage should be made every 1-3 months based on blood pressure, electrolyte levels, and s...[Read More] How Often Should You Assess Adrenal Function in Congenital Adrenal Insufficiency?
Understanding Gender Dysphoria: A Journey Through Rare Disorders
Disorder of Secondary Sexual Characteristics? Hello Dr. Hou, I am a 40-year-old male, but life has played a trick on me, as my physique is almost feminine (a normal triangle shape rather than the male inverted triangle). This means I have some female characteristics; for instanc...
Dr. Hou Jiawei reply Rare Disease
Secondary sexual characteristics and body changes are initiated with sexual development; however, boys can also secrete small amounts of estrogen, and girls can secrete small amounts of androgens. As a result, some girls may experience denser body hair and fine, light-colored hai...[Read More] Understanding Gender Dysphoria: A Journey Through Rare Disorders
Understanding Adrenal Crisis: Causes, Symptoms, Treatment, and Care
What is an adrenal crisis? What is an adrenal crisis? What are its causes? What are the clinical symptoms? What is the treatment? How should patients with this condition be cared for? Thank you!
Dr. Hou Jiawei reply Rare Disease
Adrenal crisis is caused by either congenital or acquired adrenal insufficiency, with symptoms ranging from mild to severe. Mild symptoms include weakness, fatigue, nausea, and vomiting, while severe cases may present with hypoglycemia, hypotension, or even shock. There are many ...[Read More] Understanding Adrenal Crisis: Causes, Symptoms, Treatment, and Care
Understanding Type I Collagen Metabolism and Genetic Testing for Rare Diseases
Medical Genetics Endocrinology and Metabolism Hello Doctor: Thank you for your explanation regarding the tests for Osteogenesis Imperfecta (OI) related to Xiao Jing. You mentioned the quantification of type I collagen metabolites and blood tests, as well as COL1A1 and COL1A2 gene...
Dr. Hou Jiawei reply Rare Disease
1. Quantification of type I collagen metabolites: For example, pyridinoline cross-linked telopeptide of collagen type I and carboxy-terminal propeptide of procollagen type I are elevated in patients with osteogenesis imperfecta (OI). 2. Quantifying type I collagen metabolites can...[Read More] Understanding Type I Collagen Metabolism and Genetic Testing for Rare Diseases
Understanding Osteogenesis Imperfecta: Diagnosis, Follow-Up, and Treatment Options
Medical Genetics Endocrinology and Metabolism Hello, doctor: What examinations are performed during the initial visit for a patient with Osteogenesis Imperfecta (OI)? What follow-up examinations are conducted afterward? In Taiwan's healthcare system, besides calcium suppleme...
Dr. Hou Jiawei reply Rare Disease
Osteogenesis Imperfecta (OI), commonly referred to as "glass bone disease," is primarily caused by a hereditary defect in type I collagen, leading to decreased bone strength and increased susceptibility to fractures. Initial evaluations upon first consultation typically...[Read More] Understanding Osteogenesis Imperfecta: Diagnosis, Follow-Up, and Treatment Options
Can Rare Growth Disorders Be Treated? Understanding Medical Options
Will I be this petite for a lifetime? Hello, doctor! If a person has a condition that prevents them from growing taller forever, and has been subjected to unusual looks or ridicule since childhood... this condition can indeed cause significant stress. Is there any emergency treat...
Dr. Hou Jiawei reply Rare Disease
There are many reasons for not growing taller, but medical interventions can still offer opportunities for help: 1. Administration of growth hormone 2. Specific oral medications 3. Limb lengthening surgery. The first two options require that there is still growth plate space, whi...[Read More] Can Rare Growth Disorders Be Treated? Understanding Medical Options
Understanding Growth Issues in Children: When to Seek Medical Help
Children who do not grow properly? Hello, I have a 2-year and 5-month-old son who eats 4 to 6 meals a day, but his weight has not increased for over a year. He has taken various Chinese herbal medicines to improve his constitution, but it hasn't helped; he only weighs 10 kil...
Dr. Hou Jiawei reply Rare Disease
During this period, the baby's weight gain has indeed been insufficient, which may indicate an underlying health issue. It is necessary to take the child to a medical facility for diagnosis to determine whether the growth delay is due to gastrointestinal, dietary, nutritiona...[Read More] Understanding Growth Issues in Children: When to Seek Medical Help
Concerns About Marfan Syndrome: Growth, Surgery, and Treatment Updates
Concerns about Marfan syndrome? Dear Dr. Hou, My daughter is 12 years old and is about to enter the first year of junior high school. She is 168 cm tall and weighs 46 kg. Approximately two years ago, she was diagnosed with suspected Marfan syndrome. Her current symptoms include ...
Dr. Hou Jiawei reply Rare Disease
The treatment for Marfan syndrome primarily focuses on symptomatic management. Utilizing low-dose estrogen can promote early closure of the growth plates, thereby slowing growth and reducing the severity of scoliosis. Additionally, bone density should be assessed to determine app...[Read More] Concerns About Marfan Syndrome: Growth, Surgery, and Treatment Updates
Can You Still Grow Taller After a Certain Age? Exploring Rare Conditions
Increase in height? I would like to ask the doctor if I can still grow taller at my age. I used to take traditional Chinese medicine (bone growth medicine) but it didn't seem to work, and I'm currently only 150 cm tall. I heard from my instructor that her daughter grew ...
Dr. Hou Jiawei reply Rare Disease
Taking traditional Chinese medicine (bone growth medicine) does not directly stimulate height increase. It is recommended to first assess the bones and growth plates. If there is still space in the growth plates, specific medications may be used to assist growth after a detailed ...[Read More] Can You Still Grow Taller After a Certain Age? Exploring Rare Conditions
Understanding Mitochondrial Disorders: Treatment Options for Children
Mitochondrial pathology Hello Dr. Hou, my son is currently five years old, weighing 9 kilograms and measuring 90 centimeters in height. He has been diagnosed with mitochondrial disease and has poor kidney development at birth, along with renal tubular acidosis. He is currently on...
Dr. Hou Jiawei reply Rare Disease
Mitochondrial dysfunction is one of the causes of primary renal tubular acidosis, which can lead to growth and developmental delays. Renal tubular acidosis can be classified into distal and proximal types. Distal renal tubular acidosis occurs when the kidneys are unable to excret...[Read More] Understanding Mitochondrial Disorders: Treatment Options for Children
Understanding Pheochromocytoma: Rarity, Risks, and Recovery Insights
Pheochromocytoma? Pheochromocytoma is indeed considered a rare tumor. The incidence is estimated to be about 2 to 8 cases per million people per year. Your friend's long-standing issues with unstable blood pressure and chest discomfort, which led to a diagnosis of pheochromo...
Dr. Hou Jiawei reply Rare Disease
Pheochromocytoma is a rare metabolic disorder that arises from the growth of chromaffin cells in the adrenal gland or the extra-adrenal sympathetic nervous system. Extra-adrenal pheochromocytomas account for 15% of adult cases and 30% of pediatric cases. Patients with pheochromoc...[Read More] Understanding Pheochromocytoma: Rarity, Risks, and Recovery Insights
Navigating Rare Disease: Insights on Methylmalonic Acidemia in Infants
Rare inquiry Hello Dr. Hou, my sister's child was diagnosed with methylmalonic acidemia during the newborn screening follow-up. However, the child had been drinking formula for three months before going to the hospital and has never shown any symptoms. The growth curve is in...
Dr. Hou Jiawei reply Rare Disease
In general, symptoms of vitamin B12 non-responsive methylmalonic acidemia (MMA) are relatively pronounced and severe. Even with dietary management, there may be residual effects. Further understanding is needed to determine whether it is a mild or transient form of MMA. Additiona...[Read More] Navigating Rare Disease: Insights on Methylmalonic Acidemia in Infants
Understanding Growth Delays: A Guide to Rare Diseases in Children
Failure to thrive? Hello Dr. Hou, my daughter is currently one year and six months old, weighing 7.7 kg and measuring 73 cm in height, with a head circumference of 42 cm. She is not crawling, walking, or saying "daddy." Last year, due to developmental delays, we consult...
Dr. Hou Jiawei reply Rare Disease
At 18 months of age, the child's growth parameters show a weight of 7.7 kg, height of 73 cm, and head circumference of 42 cm, indicating growth retardation and microcephaly. Additionally, there are concerns regarding delayed motor and language development, poor appetite, and...[Read More] Understanding Growth Delays: A Guide to Rare Diseases in Children
Understanding Rare Disorders: A 28-Year-Old with Unusual Aging Symptoms
A 28-year-old person who looks like they are 50 years old? Hello Doctor, I am a 28-year-old male presenting with the following symptoms: 1. Almost complete hair loss, with no hair roots in the central part of my scalp and low hair density on the sides (I started experiencing ...
Dr. Hou Jiawei reply Rare Disease
The presence of typical frontal baldness or male pattern baldness that begins in the twenties to thirties is highly indicative of androgenetic alopecia. Additionally, abnormal thick hair growth on the chest and back that does not grow tall may suggest excessive secretion of adren...[Read More] Understanding Rare Disorders: A 28-Year-Old with Unusual Aging Symptoms
Understanding Mitochondrial Diseases: Testing and Genetic Inheritance Concerns
Mitochondrial diseases Hello Dr. Hou, I would like to ask if mitochondrial diseases can always be detected through testing. My daughter underwent clinical observation in neurology and a DNA test, which revealed abnormalities in her DNA, but it could not be definitively diagnosed,...
Dr. Hou Jiawei reply Rare Disease
In addition to red blood cells, mitochondria are present in every cell of the body and are responsible for producing the energy necessary for growth and survival. Mitochondria have their own DNA, which is inherited solely from the mother. Therefore, mitochondrial DNA is passed do...[Read More] Understanding Mitochondrial Diseases: Testing and Genetic Inheritance Concerns
Understanding Methylmalonic Acidemia: Insights and Concerns for Families
Worried about grandma? My grandson has been confirmed by the hospital to have methylmalonic acidemia. However, he has gained 2 kilograms and grown 6 centimeters in height while drinking milk for the past two months, and he seems to be in good spirits. I have great respect for doc...
Dr. Hou Jiawei reply Rare Disease
Symptoms of methylmalonic acidemia vary by individual, but most are related to different mutations causing the deficiency. Some children may experience transient elevations in methylmalonic acid due to immature enzyme function at birth, and retesting is recommended.[Read More] Understanding Methylmalonic Acidemia: Insights and Concerns for Families
Contacting Doctors for Growth Hormone Treatment: Your Guide
Height growth issues! Administering growth hormone! Please respond? Is there a way to get in touch with the doctor? Could you please leave your contact information? I would like to ask my parents to visit the hospital to understand more, or can we come directly to your hospital t...
Dr. Hou Jiawei reply Rare Disease
You can directly schedule an outpatient evaluation, thank you![Read More] Contacting Doctors for Growth Hormone Treatment: Your Guide