Pediatric asymmetric stature-short stature-sexual dysplasia syndrome

Introduction to children's asymmetrical body-dwarf-sexual dysplasia syndrome Asymmetryshortstatuevariationsinsexual development syndrome (also known as Silver Syndrome, Russell-Silver syndrome, congenital side hypertrophy, congenital asymmetry - pygmy-gonadin hyperplasia syndrome, this disease is congenital Sexually transmitted diseases, in addition to half-body hypertrophy and a variety of congenital anomalies, 2/5 cases found low blood sugar at the same time, 2 / 3 have renal dysfunction. Zhang Mingtong et al. reported in 1987 that a girl had diabetes. basic knowledge The proportion of illness: 0.0001%-0.0003% Susceptible people: young children Mode of infection: non-infectious Complications: mental retardation hypoglycemia

Asymmetric body in children - the cause of short stature - sexual dysplasia syndrome

(1) Causes of the disease

The cause of this symptom has not been fully elucidated.

(two) pathogenesis

The pathogenesis is unclear. For congenital disorders, there are chromosomal abnormalities, and the white blood cell nucleus has a chimeric chromosome combination (45, X/46, XY). Therefore, it may be considered that the fertilized egg is divided into two different sizes during intrauterine development. Caused by different cells, Roget suspects that the fetus is in the uterus, and some pathological processes in the diphtheria-pituitary region are secondary. In addition, intrauterine factors may be placental abnormalities, placenta is too small, X-ray irradiation, drug influence or infection. Wait.

Asymmetric body in children - short stature - sexual dysplasia prevention

The cause of this disease has not yet been fully elucidated. The prevention method refers to the prevention method of congenital diseases, and the preventive measures should be from pre-pregnancy to prenatal:

Pre-marital medical examination plays an active role in preventing birth defects. The size of the effect depends on the examination items and contents, including serological examination (such as hepatitis B virus, treponema pallidum, HIV) and reproductive system examination (such as screening for cervical inflammation). General medical examinations (such as blood pressure, electrocardiogram) and asking about the family history of the disease, personal medical history, etc., do a good job in genetic disease counseling.

Pregnant women should avoid harmful factors as far as possible, including away from smoke, alcohol, drugs, radiation, pesticides, noise, volatile harmful gases, toxic and harmful heavy metals, etc. In the process of antenatal care during pregnancy, systematic screening of birth defects is required, including Regular ultrasound examination, serological screening, etc., if necessary, a chromosome examination.

Once an abnormal result occurs, it is necessary to determine whether to terminate the pregnancy; the safety of the fetus in the uterus; whether there is sequelae after birth, whether it can be treated, how to prognose, etc., and take practical measures for diagnosis and treatment.

The prenatal diagnostic techniques used are: 1 amniocentesis cell culture and related biochemical tests (amniotic puncture time is appropriate for 16 to 20 weeks of pregnancy); 2 maternal blood and amniotic fluid alpha-fetoprotein determination; 3 ultrasound imaging (applicable in about 4 months of pregnancy) 4X line examination (after 5 months of pregnancy) is beneficial for the diagnosis of fetal skeletal malformation; 5 chromatin determination of villus cells (40 to 70 days of conception), predicting fetal sex to help diagnose X-linked genetic diseases; 6 application gene linkage analysis; 7 fetal microscopy.

Through the application of the above technology, the birth of a fetus with severe genetic diseases and congenital malformations is prevented.

Asymmetric body in children - short stature - sexual dysplasia syndrome complications Complications, hypoxia, hypoglycemia

The difference in length of the lower limbs can lead to scoliosis, multiple deformities, mental retardation, abnormal renal function, tendency to hypoglycemia, and Wilm tumors.

Children's asymmetrical body-dwarf-sexual dysplasia syndrome symptoms common symptoms fifth finger short curved scoliosis pulmonary artery stenosis mouth angle sag ventricular septal defect precocious

This disease is a congenital disorder, both men and women can be sick, abnormal performance at birth, mainly the following clinical manifestations.

Half-length hypertrophy

The sides of the body are asymmetrical, accounting for 78%, the degree can be different, can be the whole half of the body, or only the skull, spine, one or part of the limb, the difference between the length of the lower limb can lead to scoliosis, the development of bilateral ossification centers There is a difference sooner or later. Although the normal human limbs may have a certain degree of asymmetry on both sides, the patient's asymmetry is far beyond the normal range.

2. Birth low weight

At birth, low body weight and small body accounted for 93%. Zhang Mingtong reported that 1 case was born with a body weight of 1960g.

3. A variety of congenital anomalies

Such as wide forehead, wide eye distance, sagging angle, skin hemangioma and so on.

4. Skeletal abnormalities

With the skull, the facial bone is obvious, and it is expressed as a small face, a triangular face, etc., and may have a short bend of the fifth finger, and the toe changes.

5. Cardiovascular damage

10% to 20% of cases with room or ventricular septal defect, tetralogy of Fallot, pulmonary stenosis, primary pulmonary hypertension.

6. Other anomalies

Individuals have mental retardation, mental retardation, abnormal renal function, hypospadias, abnormal skin, hyperpigmentation, low blood sugar episodes, and Wilms tumors (about 10%).

7. Sexual developmental abnormalities

34%, showing precocious puberty, mainly girls, Stool reported cases of menarche from 9 to 11 years old, Zhang reported 1 case of 10 years of menarche, most of the pubic hair is early, sexual organs development and physical development The skeletal age is delayed, and urinary gonadotropin can also be elevated. Even if it is asymptomatic, the vaginal mucosa has exfoliated cells as evidence of estrogen stimulation. Zhang Mingtong reported 11 and a half years old, blood FSH 4.5mU/ml, LH 10mU /ml, urinary gonadotropin 39.6U/24h, these three gonadotropin values have reached the high value of normal adult women of childbearing age.

Examination of children's asymmetrical body-dwarf-sexual dysplasia syndrome

1. Urine gonadotropin can increase the vaginal mucosa with exfoliated cells as evidence of estrogen stimulation.

2. Gonadotropin increases blood FSH, LH, and urinary gonadotropin increase.

X-ray examination of bone age and age development is inconsistent, bone age is backward; 5th finger is short and curved, and toe; half of the skull, spine or limb bones are larger than the contralateral side, echocardiography, chest radiograph, electrocardiogram and angiography can be seen congenital heart Abnormal changes such as vascular malformations.

Diagnosis and differential diagnosis of asymmetrical body-dwarf-sexual dysplasia in children

The diagnosis of this syndrome is mainly based on its clinical features and laboratory and X-ray examination.

Different from simple congenital cardiovascular disease, identification with precocious puberty, children with precocious puberty, bone age often have early performance.

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