Understanding Congenital Adrenal Hyperplasia: Risks, Treatment, and Concerns
Congenital Adrenal Hyperplasia (CAH) Hello Dr. Wu, I apologize for bothering you. My girlfriend was diagnosed with a condition related to pediatric endocrinology when she was in kindergarten. The health insurance documentation states the diagnosis as "congenital adrenal hype...
Dr. Wu Wanru Reply:
Twenty years ago, the understanding of this disease was vastly different from today. Advances in molecular genetics have significantly improved our ability to identify genetic inheritance patterns. However, this group of disorders involves a wide range of enzymes, and different t...[Read More] Understanding Congenital Adrenal Hyperplasia: Risks, Treatment, and Concerns
Understanding Congenital Adrenal Hyperplasia: Risks, Treatment, and Concerns
I would like to ask a few questions about rare diseases, please! Hello, Doctor. I apologize for bothering you. My girlfriend was diagnosed with a condition related to "congenital adrenal hyperplasia" during her kindergarten years, which is associated with enzyme deficie...
Dr. Jian Yingxiu Reply:
Congenital adrenal hyperplasia has several subtypes. Please consult your girlfriend and her physician to understand the necessity of medication. If genetic counseling is needed, bring your girlfriend and her medical history to a genetic counseling clinic at a medical center to de...[Read More] Understanding Congenital Adrenal Hyperplasia: Risks, Treatment, and Concerns
Understanding Hair Loss and Abnormal ANA Levels in an 8-Year-Old
An 8-year-old child with hair loss and abnormal ANA (antinuclear antibody) levels? Hello, a child (8 years old) initially had a small patch of alopecia areata, which later progressed to widespread hair loss. Blood tests showed an antinuclear antibody (ANA) titer of 1:320, with co...
Dr. Lin Sixie Reply:
Hello Peggy: Based on the description, the hair loss does not yet meet the criteria for lupus erythematosus. It is recommended to seek evaluation and treatment from a pediatric dermatologist at a medical center.[Read More] Understanding Hair Loss and Abnormal ANA Levels in an 8-Year-Old
Which Medical Specialty Should You Consult for Neurofibromatosis?
Which medical specialty should one consult for neurofibromas? Hello, Doctor: I would like to ask, I have a rare disease called neurofibroma, and I have seen many doctors. Most of them are seeing this for the first time or mentioned that they did not study this rare disease in med...
Dr. Liu Qingshan Reply:
1. Genetic and diagnostic issues: Consult a neurologist. 2. Aesthetic concerns: Consult a plastic surgeon or dermatologist. 3. Intracranial nerve tumor compression: Consult a neurosurgeon.[Read More] Which Medical Specialty Should You Consult for Neurofibromatosis?
Understanding Rare Neuromuscular Diseases: Diagnosis and Testing Options
Neuromuscular diseases Hello Dr. Chen, I have been experiencing weakness in my limbs recently. I went to Kaohsiung Medical University for relevant tests, but they couldn't find any issues. I ultimately chose to pay out of pocket for whole exome sequencing. 1. I would like ...
Dr. Chen Shunsheng Reply:
Clinical presentation should be the basis for decision-making; it cannot be generalized. It is important to consult several physicians from relevant specialties in clinical practice.[Read More] Understanding Rare Neuromuscular Diseases: Diagnosis and Testing Options
Understanding 3p26.3 Microdeletion: Implications for Fetal Health and Development
Amniotic fluid chip genetic abnormality shows a microdeletion of 0.92 Mb at chromosome 3p26.3? We are already far along in the pregnancy. Since discovering fetal heart abnormalities at 21 weeks, we underwent amniocentesis and genetic testing. The genetic testing revealed a deleti...
Dr. Wu Wanru Reply:
The information you are looking for pertains to symptoms caused by large deletions in the 3p region, rather than the VOUS (variants of uncertain significance) that you have currently tested positive for. However, these variants can be found in both normal and abnormal cases, and ...[Read More] Understanding 3p26.3 Microdeletion: Implications for Fetal Health and Development
Understanding Left-Sided Weakness and Pain: Possible Causes and Solutions
Numbness and weakness in the left arm and from the calf to the knee? Hello, doctor. I am a 19-year-old student. Recently, I've been experiencing some issues on the left side of my body, and I would like to consult you. I've noticed weakness and a tingling sensation in m...
Dr. Chen Shunsheng Reply:
Please seek medical attention at a neurology center as soon as possible. This should not be related to posture, and it is important to rule out any potential lesions in the right hemisphere of the brain or cervical spinal cord. Please make an appointment promptly. The association...[Read More] Understanding Left-Sided Weakness and Pain: Possible Causes and Solutions
Exploring Rare Oral Health Issues: Symptoms, Diagnosis, and Treatment
Diagnosis and Treatment of Oral Health Issues Hello Doctor, I have been experiencing symptoms for over five months now, but recently the bloody taste in my mouth has intensified. Sometimes it feels like it's coming from my throat, and at other times I sense a bloody taste in...
Dr. Chen Shunsheng Reply:
Your issue is quite complex and involves multiple specialties. It is recommended that you visit a medical center's Department of Oral Medicine and Otolaryngology in person. The primary concern is to rule out the possibility of head and neck tumors.[Read More] Exploring Rare Oral Health Issues: Symptoms, Diagnosis, and Treatment
Understanding PRUV: Key Considerations for Expecting Mothers After 28 Weeks
At 28 weeks, PRUV was only discovered, and genetic testing was not performed earlier. How can we further confirm the fetal condition? The patient is a 33-year-old woman who had a delayed labor resulting in a cesarean section for her first pregnancy. During her second pregnancy at...
Dr. Wu Wanru Reply:
Currently, what you are seeing are normal variations commonly found on ultrasound, with little correlation to rare diseases. However, there is always a possibility of unexpected findings (although the probability is extremely low). If you are very concerned about this possibility...[Read More] Understanding PRUV: Key Considerations for Expecting Mothers After 28 Weeks
Understanding ALS: When Symptoms Persist Despite Normal Test Results
Suspecting that you have amyotrophic lateral sclerosis (ALS)? I started experiencing weakness in my hands and feet in December 2017, and it has progressively worsened. I feel that my limbs are becoming less agile, and I have also developed muscle twitching, numbness, and soreness...
Dr. Lai Xiangrong Reply:
Amyotrophic lateral sclerosis (ALS), also known as Lou Gehrig's disease, is characterized by significant muscle weakness and/or atrophy. Other prominent symptoms include difficulty swallowing, cramps, or muscle stiffness. Muscle weakness may affect the limbs and/or result in...[Read More] Understanding ALS: When Symptoms Persist Despite Normal Test Results
Understanding Chromosomal Abnormalities: Navigating Rare Disease Concerns
Chromosomal abnormalities Hello Doctor: I would like to consult you because a few weeks ago I underwent amniocentesis, and the report indicated an abnormal karyotype of 45,X[3]/46,XY[21]. I asked my obstetrician, and he mentioned that if I have a child, there is a possibility of ...
Dr. Jian Yingxiu Reply:
Hello: Several days have passed, and I am wondering what decision you have made. Regardless of your choice, I am sure it is what you believe is best for the baby. If you need anything in the future, please feel free to reach out to us. Wishing you all the best.[Read More] Understanding Chromosomal Abnormalities: Navigating Rare Disease Concerns
Understanding Right-Sided Umbilical Vein PRUV: Genetic Links and Risks
Right umbilical vein PRUV Hello Dr. Chen, I underwent a high-level ultrasound at 22 weeks of pregnancy and was diagnosed with "PRUV (Persistent Right Umbilical Vein)" on the right side, which is considered rare and has limited related cases. Could this be caused by gene...
Dr. Chen Ming Reply:
For your safety, please consult a well-known obstetrician in your area. There are no certainties in this matter; only amniocentesis can provide a definitive diagnosis for Down syndrome. NIPS (Non-Invasive Prenatal Screening) has a sensitivity of 99%, but it cannot definitively de...[Read More] Understanding Right-Sided Umbilical Vein PRUV: Genetic Links and Risks
Understanding the Impact of Chromosome 15q11.2 Microdeletions on Rare Diseases
Chromosomal deletion The deletion at 138275 is located at the long arm of chromosome 15, specifically at q11.2, within the region from 22,770,421 to 23,282,798, which corresponds to OMIM (615656). What potential impacts could this have? The blood test has confirmed it is heredita...
Dr. Chen Ming Reply:
Please scan your report and send it to [email protected]. Additionally, call 04-7238595 ext. 7244 to request assistance from a genetic counselor to add me to the Chang Gung Memorial Hospital outpatient clinic. God bless you. [The case results do not specify the genome version...[Read More] Understanding the Impact of Chromosome 15q11.2 Microdeletions on Rare Diseases
Exploring One-Stop IVF Solutions for Rare Disease Challenges
One-stop IVF services Hello Dr. Chen, I have undergone in vitro fertilization (IVF) at National Taiwan University Hospital and have also had preimplantation genetic screening (PGS). Today, I came across information online regarding a comprehensive IVF service. The reason we are...
Dr. Chen Ming Reply:
Understood. Since the outpatient services at National Taiwan University are temporarily suspended, you may want to first call the genetic counselor at Changhua Christian Hospital or visit the outpatient clinic there for inquiries.[Read More] Exploring One-Stop IVF Solutions for Rare Disease Challenges
Understanding Y Chromosome Deletions: Risks and Concerns for Your Baby
Chip, Y chromosome mutation abnormalities? Hello Doctor, I have a baby boy. I underwent amniocentesis, and the results were normal. However, the chromosomal analysis indicated a deletion in the AZFc region of the Y chromosome, which is a mutation rather than hereditary. I am curr...
Dr. Chen Ming Reply:
In principle, it only affects fertility, but it is recommended to consult a specialist in an outpatient clinic for formal advice.[Read More] Understanding Y Chromosome Deletions: Risks and Concerns for Your Baby
Amniotic Membrane Repair and Fluid Infusion After Water Break?
Is it appropriate to perform amniotic membrane repair and amniotic fluid infusion after the rupture of membranes? Hello Doctor, I would like to ask for your advice. I underwent a McDonald cerclage at 16 weeks, and at 20 weeks, I experienced cervical softening with slight bleedi...
Dr. Chen Ming Reply:
Peace: Your issue is not solely related to ruptured membranes; it also involves cervical structural instability. Essentially, amniotic membrane repair requires specific conditions: for example, the uterine cavity must be confirmed to be free of infection, and the cervical structu...[Read More] Amniotic Membrane Repair and Fluid Infusion After Water Break?
Understanding Balanced Chromosomal Translocation in Pregnancy: Expert Advice
Chromosomal balanced translocation Dr. Chen: Hello, I am currently almost 20 weeks pregnant. During the amniocentesis, it was found that there is a balanced translocation involving the 4th and another chromosome. The amniotic fluid chromosomal microarray report showed no pathogen...
Dr. Chen Ming Reply:
You can call 04-7238595 ext 7244 during business hours for inquiries.[Read More] Understanding Balanced Chromosomal Translocation in Pregnancy: Expert Advice
Understanding Chromosomal Abnormalities: PGS and PGD Options for Parents
Chromosomal abnormalities Hello Dr. Chen: I am pregnant with a pair of twins who have chromosomal abnormalities, specifically a microdeletion at the 22q11.21 region detected through amniocentesis with chromosomal microarray analysis. We ultimately decided to terminate the pregnan...
Dr. Chen Ming Reply:
This issue is very complex. Please come to the Department of Genetic Medicine at National Taiwan University or the Changhua Christian Hospital outpatient clinic for a face-to-face discussion. God bless.[Read More] Understanding Chromosomal Abnormalities: PGS and PGD Options for Parents
Diet and Exercise Guidelines for Managing Tourette Syndrome in Children
Diet and Exercise for Tourette Syndrome Hello, Doctor: I would like to ask the following two questions. 1. Regarding dietary considerations for Tourette syndrome, the doctor mentioned avoiding shellfish, nuts, chocolate, and caffeine, which seems to align with a low-copper diet...
Dr. Lin Guanglin Reply:
A. Dietary recommendations for children with Tourette syndrome include: 1. Avoiding foods and beverages that contain caffeine. 2. Increasing the intake of fruits and vegetables. 3. If tests reveal elevated levels of copper in the body, it is necessary to limit high-copper foods; ...[Read More] Diet and Exercise Guidelines for Managing Tourette Syndrome in Children
Will My Child Inherit Genetic Issues from My Mother with Intellectual Disability?
If my child has the same genetic deletion as my mother (who has an intellectual disability), will my child have issues? I found that my second child has a DNA segment deletion in the 1p22.3 region, which is the same genetic deletion as my mother (who has intellectual disabilities...
Dr. Chen Ming Reply:
It seems that this segment cannot fully explain your mother's condition because you are doing well. You can come and discuss it after returning to the country.[Read More] Will My Child Inherit Genetic Issues from My Mother with Intellectual Disability?