30-year-old Xiaofang has felt that she is a little different from other girls since she was a child, she has never had a period, and there are no signs of development of girls of the same age during puberty, but this secret has always been buried deep in her heart. It wasn't until recently, when she came to Zhejiang Provincial Tongde Hospital, that she found out that she was suffering from a rare disease, but unfortunately......
She never had her period when she was an adolescent
Xiaofang comes from a remote rural area, and since she was a child, she knew that she could only change her fate by studying. Since the age of 14, she has worked hard all the way, from the best junior high school in the county to graduate from a well-known university in the provincial capital.
When she was young and ignorant, her mother found that Xiaofang had never come to her period, and she had taken her to the township health center to see her, but limited to the medical level at that time and the local area, no results were diagnosed. After that, it was gone, and this matter became a secret in Xiaofang's heart.
He is 145 cm tall and has no uterus and ovaries
Xiaofang was found to have thyroid cancer during this year's physical examination, and she chose to come to the Department of Nail and Breast Surgery of Zhejiang Provincial Tongde Hospital for surgical treatment. When the doctor was admitted to the hospital for a medical history, Xiaofang revealed that she had never had a period.
So, the doctor arranged a gynecological ultrasound, and the ultrasound report turned out to be "not seen at all, the uterus and ovaries". The doctor of the nail and breast surgery department immediately invited the doctor of the endocrinology department for a consultation.
Through detailed examination and physical examination, the endocrinologist found that Xiaofang was only 145cm tall, short in size, with high cheekbones, short jaw, elbows turned out, breasts basically not developed, and the vulva was naïve. Thyroid cancer was excluded from this hospitalization, and diabetes was also found.
Based on the above characteristics, endocrinologists highly suspect that Xiao Fang has Turner syndrome.
Doctors then perfected a peripheral blood chromosome test, which is the gold standard for testing for Turner syndrome. The results of the examination confirmed that Xiaofang had one less chromosome than normal people, and some cells had only one sex chromosome, which belonged to the chimeric type of Turner syndrome (45,X/46,XX).
When the chromosome report came out, Xiaofang finally understood that her years of trouble, short stature and amenorrhea, turned out to be this disease.
The endocrinologist told her that the disease could only improve lifelong adulthood with standardized treatment before puberty. But fortunately, Xiaofang is a chimeric type, but some cells have chromosomal deletions, and the symptoms are relatively mild.
After thyroid cancer surgery, Xiaofang will continue to follow up in the endocrinology outpatient clinic, actively control blood sugar, and under the doctor's arrangement, check for diseases that are easy to be complicated by Turner syndrome, such as hypertension, aortic disease, osteoporosis, etc. Subsequently, Xiaofang also hopes to become an ordinary woman through sex hormone replacement therapy.
What is Turner Syndrome?
Turner syndrome, also known as congenital ovarian hypoplasia syndrome, is the only chromosomal monosomy syndrome in which humans can survive. Normal women have two X chromosomes, and people with Turner syndrome have one X chromosome intact and the other sex chromosome completely or partially missing, or have a structural abnormality. About 1 in 2,500 to 4,000 live births of female babies with Turner syndrome.
What are the characteristics of Turner syndrome?
1. Short stature
Almost all girls with Turner syndrome are short stature, and if left untreated, they will be 20 cm shorter than normal in adulthood, and basically no more than 150 cm.
2. Gonadal dysplasia
It is manifested as naïve vulva, non-development of genitals and secondary sexual characteristics, and a small number of girls have breast development, but sexual development is stagnant or even regressive during puberty, and it is manifested as premature ovarian failure.
3. Developmental abnormalities and congenital malformations
There are often neck webs, shield chest, elbow valgus, skin black nevus, ptosis of the upper eyelids, small jaws, and some patients have short fourth metacarpal bone, crooked toes, exotic warts of the femur and tibia, and phalanges dysplasia;
4. It is easy to be complicated with autoimmune diseases
The most common is autoimmune thyroiditis, and others such as diabetes, juvenile idiopathic arthritis, inflammatory bowel disease, and celiac disease are high-risk groups.
5. Changes in intellectual and neurocognitive function
Most patients have normal intelligence, and some may have specific types of Xi disorders, including attention deficits, hyperactivity disorders, and Xi disorders.
Is it necessary to test for Turner syndrome in girls who have stunted growth or poor menstruation during puberty?
Severe idiopathic short stature, such as being -2 standard deviations taller than peers and unexplained delayed puberty, are all indications for karyotyping. In general, karyotyping of peripheral blood can diagnose Turner syndrome, which means that a blood test can be done.
Turner syndrome was diagnosed
Will you be short for life and unable to have children?
No, lifelong short stature can be avoided by aggressive treatment as early as possible. Generally, recombinant human growth hormone growth promotion therapy is started at the age of 4-6 years to increase the adult height of patients, and through the supplementation of sex hormones, normal pubertal development can be simulated, sexual development can be induced and secondary sexual characteristics can be maintained.
The vast majority of women with Turner syndrome have early-onset ovarian insufficiency, and only about 2%~5% can successfully conceive naturally. Therefore, it is important to have early counseling on ovarian reserve and fertility preservation. The only way to preserve fertility in prepubertal girls is through cryopreservation and transplantation of ovarian tissue;
Turner syndrome itself is not a contraindication to pregnancy, and multidisciplinary screening, including endocrinology, reproduction, cardiovascular, obstetrics and gynecology, etc., is required before planning pregnancy, which can help these women achieve their desire to become mothers.
In addition to short stature and fertility problems
What are the other complications of Turner syndrome?
The most common and harmful complication of Turner syndrome is cardiovascular problems, and the risk of congenital and acquired cardiovascular diseases is 70%~80%, including bivalvation of the aortic valve, coarctation of the aorta, aortic dissection (fatal cause), aortic dilation, hypertension, and ischemic heart disease. In addition, the more common complications include urinary tract malformations, osteoporosis, cancer risk, hearing abnormalities, hypothyroidism, and cognitive-behavioral symptoms.
In terms of intelligence, Turner syndrome is close to normal, except that logical thinking is slightly worse, and most math scores are not good, but otherwise it seems to be okay.
Even if you are diagnosed with Turner syndrome, don't be discouraged, people with Turner syndrome can do well at work. For example, five-time world gymnastics champion Missy Marlowe, 1984 Oscar winner for Best Supporting Actress Linda Hunt, Hollywood actress Saoirse Ronan, actress Janette Krankie, and medical geneticist Catherine Ward Melver are all patients with Turner syndrome.
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