Height, Rare Disease FAQ

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...

Hypotonicity, music therapy The baby girl is currently over 3 months old, weighing 4700g (birth weight 2950g), measuring 61cm in height (birth length 53cm), and has a head circumference of 38.4cm (birth head circumference 33cm). She was induced at 41 weeks and delivered vaginally...

Is there a high suspicion of Marfan syndrome? Recently, I've been experiencing some tightness in my chest and a desire to cough. After researching online, I discovered that this could be related to a genetic condition, and I find that I match many of the characteristics. I w...

The sclera of the daughter appears bluish? Dear Dr. Jian, Hello. My daughter is currently about 82 days old. Around the age of 2 months, I suddenly noticed that her sclera appears bluish. She was born weighing 3432 grams and measuring 51 centimeters. Her current weight is approx...

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...

excuse me? Hello Dr. Hsu, I have a 5-year-and-1-month-old boy who is 102 cm tall and weighs 14 kg. Is there a concern regarding developmental delay? He has two older brothers, and his energy and learning abilities are normal. However, there is a significant difference in his gr...

Precocious puberty? Hello, Doctor: My daughter is 10 years old and is about to enter the fourth grade, with a height of only 139 cm. She has recently started menstruating and is showing signs of breast development. Is this considered precocious puberty? Is it possible to artifici...

Long-term weight issues below 3% body weight? Dr. Hsu: Hello, my daughter is currently nearly 1 year and 8 months old and weighs only 7.5 kg, which is far below the growth chart's 3rd percentile. She was born full-term (38 weeks and 4 days) at only 2308 grams, and this has b...

Growth delay issues!! Hello! My child is a boy, born in November 2004. He is currently 101 cm tall and weighs 14.5 kg. Last time, he had a cold and we took him to see Dr. Long Yao-jin at Madou New Building Hospital. Dr. Long suggested that we take our child to you for an evaluati...

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...

Growth retardation My child is in the third grade of elementary school, but their height is only 120.2 cm. Their daily routine is normal, appetite is good, and they are very active. The mother is 152 cm tall and the father is 170 cm tall. Should I be concerned that this is a meta...

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 ...

Short stature? Hello, doctor. My son is going to start junior high school this year and he is a boy currently measuring 158 cm in height. I have been worried about whether he will grow taller because his Adam's apple is already quite prominent, and he has a lot of pubic hair...

Is it feasible to delay development in order to gain time for height increase? Dear Dr. Lin, My daughter seems to have inherited her short stature from her father's side, as her height has consistently been below the 5th percentile on growth charts since she was young. We c...

I want to grow up? The child is seven years old this year. She is in the first grade of elementary school, with a height of 70-75 cm and a weight of 7-7.5 kg. She is unable to express herself and cannot walk, and is currently undergoing rehabilitation. Chromosomal testing has ret...

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 ...

My nephew was suspected of having Down syndrome? Dear Dr. Lin, Hello, my nephew is nine months old. He was previously seen at your clinic (Taipei Mackay Memorial Hospital) and there were concerns about the possibility of Down syndrome. However, I am unsure of the results. Recent...

Where is the best place to receive treatment for congenital adrenal hyperplasia? Hello Dr. Jian, My child is a boy, currently 5 years and 8 months old, attending kindergarten. He is not yet six years old. Due to his height growth, we recently took him to the hospital for an exa...

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...

Vaginal infection!!! I experience vaginal infections 1 to 2 times every month, and this has been ongoing for several years. Each infection is accompanied by white and yellow-green chunky discharge, and there is also itching in the vulvar area. This year, I had one instance of hav...