What Is Proportional Dwarfism?

Dwarfism is caused by a genetic disease that causes disproportionate growth of short stature and bones. According to the American villain company, a 5,000-member organization that is open to people under 4 feet 10 inches tall, 400 children with severe dwarfism are born each year by parents of normal height.

Dwarfism is caused by a genetic disease that causes disproportionate growth of short stature and bones. According to the American villain company, a 5,000-member organization that is open to people under 4 feet 10 inches tall, 400 children with severe dwarfism are born each year by parents of normal height.

Dwarfism causes delayed growth of the body due to insufficient growth hormone secretion caused by various reasons. The cause of dwarfism can be attributed to both innate and acquired factors. Most of the congenital factors affect the growth and development of the fetus due to the deficiency of the parents' blood, most of which are related to genetics, and the general intellectual development is normal.

nickname

Dwarfism

English name

Dwarfism

Multiple groups

The child is not developing normally

Common causes

Genetically related

Common symptoms

Adults are 120 cm tall

Etiology and pathology of dwarfism

Dwarfism

Common causes of dwarfism in children:

1. Diseases of the skeletal system such as cartilage dystrophy and anti-vitamin D rickets.

Dwarfism

2. Chromosomal abnormalities include congenital stupidity (21 trisomy syndrome), feline syndrome (deletion of short arm of chromosome 5) and congenital ovarian dysplasia.

3 Metabolic defects of innate enzymes such as mucopolysaccharidosis and hepatic glycogen accumulation.

4 Endocrine disorders such as pituitary dwarfism, hypothyroidism (cretinism).

5. Kidney diseases such as tubular acidosis and Fanconi syndrome.

6. Familial dwarfism and primary dwarfism, delayed physical growth or delayed puberty.

7. Application of long-term high-dose corticosteroids.

TCM etiology of dwarfism

The name of the disease in Chinese medicine is vain, and the weight is heavy.

Definition and interpretation

Pituitary dwarfism refers to growth and developmental disorders caused by hypothyroidism of the pituitary gland in the body before puberty, lack of or insufficient growth hormone (GH) secretion, or insensitivity to auxin.

The etiology of this disease can be attributed to both innate and acquired factors. Congenital factors mostly affect the growth and development of the fetus due to the deficiency of parents' essence and blood; acquired factors may be due to food poisoning, or suffering from a fever disease, or high fever burn fluid, consuming blood and essence, causing atrophy of the veins and affecting growth and development. ; Or due to chronic illness due to spleen and kidney deficiency, insufficient blood and qi, can not nourish the brain. Patients with brain tumors are mostly caused by coagulation of phlegm turbidity toxin, but phlegm coagulation of phlegm or stasis of phlegm and blood stasis is related to yin and yang disorders of the body, visceral loss, and other factors. Onset patients, all have righteousness and deficiency.

Chinese medicine believes that the occurrence of this disease is related to the loss of spleen and kidney, insufficient blood and qi, cohesion of water and dampness, and deficiency of yin and yang. The kidney is the congenital essence. It contains the essence, the main bone, the marrow, and the brain. The kidney mainly grows, develops, reproduces, and the kidney essence is deficient, but the growth and development are retarded. Congenital deficiency causes damage to the spleen and stomach, and qi and blood deficiency , The liver was out of support, the muscles and bones were soft, so that the figure was short and the hair was pygmy.

Causes of Dwarfism in Western Medicine

Dwarfism

The disease can be divided into two types: primary and secondary. The etiology of the primary is unknown. Most of them are caused by congenital hypoplasia or genetic disease. They may be autosomal recessive, familial, and insufficient growth hormone alone. Mainly, boys are more common than girls, and the male to female ratio is about 2 to 4:10. Secondary cases can be secondary to hypothalamic-pituitary diseases, such as tumors, infections, traumatic brain injury, surgery or radiotherapy and other factors, directly damage the pituitary, or damage the hypothalamus, or interrupt the pituitary portal vein and cause disease. Hypothalamic-pituitary tumors are an important cause of secondary pituitary dwarfism.

The pituitary changes of primary pituitary dwarfism include: congenital absence of pituitary, congenital hypoplasia and lack or decrease of eosinophils. Pituitary atrophy, fibrosis or cystic change with calcification. In addition to changes in the pituitary gland, it is often accompanied by varying degrees of atrophy of the gonads, thyroid, and adrenal cortex, and visceral and skeletal growth is stagnant at an early stage. Secondary tumors of the hypothalamus-pituitary site are more common, of which craniopharyngioma is the most common, and pituitary chromocytoma rarely occurs in children, but it can also start early and cause dwarfism. ^[1]

Clinical manifestations of dwarfism

Dwarfism pituitary dwarf

Endocrine dwarf. Due to congenital (primary) or acquired (secondary) reasons, the anterior pituitary dysfunction and insufficient growth hormone secretion hinder the body's growth and development. The main clinical manifestations of pituitary dwarf are: 1) stunted growth, no adolescent onset period, and the appearance of "old child" premature aging in adulthood; 2) short body but symmetrical trunk, limbs and head ratio 33) delayed growth of epiphysis, Bone age is lower than its actual age; 4) Stunted sexual organs, secondary sexual characteristics are not developed; 5) Sella can be normal (primary pituitary dwarf) or enlarged (secondary pituitary dwarf caused by tumor); 6) Except for inadequate growth hormone secretion in the laboratory, gonadotropin is often lacking, and the secretion of several other anterior pituitary gonadotropins can be normal or low.

Various chronic infections, systemic diseases, and severe malnutrition in childhood can cause central nervous system dysfunction, leading to dystrophic dwarfism of systemic nutritional metabolism. Although these dwarfisms have their own etiology and clinical manifestations, they are all related to the hypophyseal secretory function, and the dwarf symptoms are similar.

Dwarf cretinism

Thyroid hormone is closely related to bone maturation. When the thyroid energy is low in childhood, the ossification of cartilage and the growth of teeth are hindered, and the time for the appearance of long ossification centers is significantly delayed, which affects the development and maturity of the bone pathways, resulting in short stature. The clinical features of this disease are: 1) obstructed facial development, baby face, large tongue extension, 2) major long bone development disorders such as femur, tibia, etc., so the body proportion is short lower body, upper body length; 3) sexual development Late or unaffected; 4) Low intelligence.

Cretin's disease, also known as drowsiness, is caused by hypothyroidism in the fetus or infancy. If hypothyroidism occurs later, it is called myxedema.

Dwarfism Cartilage Development Disorder

Due to the weak cartilage growth ability and the slow development of the long bone path, this disease forms a severely short malformation. It has a family inheritance and is not endocrine. The clinical manifestations are: 1) the length of the trunk bone is usually normal, and the limbs are significantly shorter, and the lower body is significantly shorter than the upper body; 2) the lordosis, the abdomen is stiff, the hips are posterior, and the fingers are short; 3) the mental development is normal; 4) The sex organs are normal and reproductive.

Dwarfism ovarian hypoplasia

This disease, also known as Turner syndrome, is a congenital genetic defect in women. The patient's ovarian hypoplasia was accompanied by dwarfism. Its characteristics are: 1) the closer to puberty, the slower the growth and development; 2) the reproductive organs are underdeveloped and the primary amenorrhea; 3) the body is short and stout, with a shield-shaped chest; 4) the patient's urine has a significant increase in gonadotropin, which is related to Pituitary dwarfism is just the opposite.

In addition, there are primordium dwarf, precocious dwarf, short, all of which are physical, not pathological, and genetic.

Classification of dwarfism

Dwarfism cartilage dystrophy

It is a chromosomal dominant inheritance, mainly due to the formation of chondrocytes in the metaphysis of long bones, which affects the length of the bones, making the bones thicker but not growing. The children's limbs are short, but the trunk principal is longer, so the upper body is longer than the lower body. However, the hip joint has short fingers, flat fingers, low nose bridge, large head circumference, prominent forehead, abdomen protrusion, lumbar lordosis, prominent kyphosis, and normal intelligence. X-ray examination of the long bones revealed that the long bones were short, with increased curvature and swelling at both ends.

Congenital dwarfism

Also known as Down syndrome, is caused by autosomal abnormalities. The child is often short, with special face and mental retardation. The child has a low nasal bridge, two eyes wide apart, the outer condyles of the two eyes outward, the mouth is half open, the tongue is often extended, the palms are often continuous, and the little fingers are short and directional. Internal curvature, sometimes with congenital heart disease, chromosome analysis can confirm the diagnosis.

Dwarfism mucopolysaccharidosis

Thomas Dilward

It is caused by congenital mucopolysaccharide metabolism disorder, which causes excessive storage of mucopolysaccharide in various tissue cells in the body. Normal at birth. Symptoms begin to appear from 6 months to 2 years of age. The child has a short stature, progressive mental retardation, thick skin, dry hair, wide eye distance, sunken nose, large tongue, often accompanied by hearing impairment, hepatosplenomegaly , The head is large and square, and the fingers are thick and short. X-ray examination showed hyperskeletonization of the whole body, enlargement of the saddle, premature closure of the cranial suture, narrow proximal and wide distal ribs, shaped like a streamer. Mucopolysaccharides increased in children's urine.

Dwarfism renal tubular acidosis

It is congenital or acquired renal tubular dysfunction, which causes growth retardation in children, and is often accompanied by anorexia, fatigue, weakness, polydipsia, polyuria, and thirst. X-ray examination showed osteoporosis and epiphyseal changes of long bones, calcification in the kidney area, blood biochemistry showed hyperchloric metabolic acidosis, low potassium, and alkaline or neutral urine.

Dwarf cretinism

It is congenital hypothyroidism or absent, commonly known as stunting syndrome (see endocrine disease, hypothyroidism for details).

Dwarfism familial short stature

It is related to the family's physical type. Although the body length is insufficient to some extent, its growth rate, bone and tooth development, and sexual maturity are normal, and there is no manifestation of abnormal endocrine function.

The prevention and treatment of dwarfism is mainly based on the primary disease. Here we mainly introduce the prevention and treatment of cretinism. Iodized salt should be supplied to goiter endemic areas to reduce the incidence.

Dwarfism

There have been different opinions on the pathogenic mechanism of parasitic disease dwarfism (schistosomiasis dwarfism). Early scholars (Heng Dingchuan et al., 1931) believed that the obstacles to growth and development were similar to cretinism, that is, caused by hypothyroidism in the body; others have also proposed (Wu Guang et al., 1942) that it is related to pituitary and hypothyroidism . After liberation, some scholars in China (Huang Mingxin et al., 1956, 1960; Cheng Decheng, Diao Youfang, 1957; Guo Bangfu et al., 19853 Zheng Zhaoling et al., 1959), after observing and studying a large number of cases, first, according to the clinical manifestations of patients Observation of common characteristics (symmetrically short stature, undeveloped sexual organs, no significant decrease in intelligence, etc.), which are considered to be different from the main manifestations of cretinism 3 Second, according to the pathological anatomy of the patient's body (its special lesions except for short stature, reproductive organs And secondary sexual dysplasia, each endocrine gland, especially the pituitary gland, shows degeneration and atrophy), consistent with the above clinical manifestations; third, according to the young rabbits infected with Schistosoma japonicum 75 after weaning for 10-31 days Anatomy results after 86 days of Treaty of 100 (except for the general pathological changes of schistosomiasis, all infected rabbits showed growth staying in the immature stage, retarded osteogenesis, retarded growth of long bones and cartilage, slender trabeculae, and various endocrine glands There are varying degrees of atrophy, thyroid and adrenal atrophy, follicles of the ovary or small epithelial cells of the testis degenerate, and the pituitary gland Anterior eosinophilic rough cells decrease), the same changes after pituitary resection in animals, and also consistent with the clinical manifestations of schistosomiasis in humans. Therefore, it is proposed that the important cause of dwarfism caused by schistosomiasis in childhood is the decline of anterior pituitary function, which leads to physical developmental disorders in patients with schistosomiasis. ^[2]

Examples of dwarfism

Dwarfism the most famous dwarf

General Tom Thumb (Charles S. Strydon) (above) is a child born to normal-height parents in 1838. When Tom took him to the circus at the age of 11 at PT Barnum and advertised it on the poster as "General from England", he was only 25 inches tall and weighed only 15 pounds. Thumb Tom became a celebrity and traveled the world, meeting leaders and royals, including Abraham Lincoln, Queen Victoria, and Prince Albert. When Thumb Tom got married, he was married to the little bride Livignoux Warren, and they stood on a grand piano to entertain 2,000 guests. Thumb Tom died of a stroke at the age of 45 on July 15, 1883. More than 10,000 people attended his funeral.

The smallest dwarf villain

Lucia Lassat is the smallest woman ever. When she was born in 1863, she weighed only 8 ounces and was 7 inches tall. When she grew up, she was only 20 inches tall and weighed no more than 8 pounds. When she was wearing a Victorian frilly skirt and sitting on an adult's thigh, she was easily mistaken for a ceramic doll. She was the most expensive glamour in the show at the time, earning $ 20 an hour when her monthly salary averaged $ 20. Despite special care for her fragile life, she died unfortunately while traveling by train in 1890. At that time, the train stopped on the Rocky Mountain due to a snowstorm. There was no heating in the car, no matter how many quilts she covered, her weak body could not keep warm. She froze there like a toy figurine, and was finally frozen to death.

Dwarf Island

In 2004, archaeologists made an astonishing discovery while unearthing the once thriving civilization of dwarven civilization on the island of Flores, where Indonesia's dragons and baby elephants live. Human bones from 95,000 to 12,000 years ago indicate the existence of a complex society where a person's height does not exceed three feet. Scientists are not yet sure why they could have existed for so long in an isolated bliss world when our other, taller ancestors ruled other parts of the earth. The cause of their extinction seems certain: the island's volcano erupted exactly 12 thousand years ago. ^[3]

Dwarf palm doll

Little boy holding Charlotte as if holding a doll

According to the British "Daily Mail" report, a 2-year-old girl in the UK, Charlotte Garside, is the youngest girl in the world. She is less than 56 cm tall, smaller than many of her toys and looks like Like a doll on the palm.

Charlotte and her family live in a small seaside village near Hull. She has a rare form of congenital dwarfism, but doctors have not yet determined what it is. This rare dwarfism has only 100 patients worldwide. The doctor said that she is currently half the height of an average child of the same age and does not know if she can continue to grow.

Charlotte's parents said that she was diagnosed with congenital dwarfism three months after birth, and that her body was very small and only her doll's clothes were suitable for her. She can't eat or digest, so she can only put in a stomach tube to enter milk powder. She can insert a stomach tube for 11 hours a day. Charlotte has three older sisters, and they are all in good health. ^[4]

Clinical diagnosis of dwarfism

TCM syndrome differentiation

1. Kidney essence deficiency:

Symptoms: Weak endowment, congenital deficiency, short stature, thin body, delayed closing of the cardia, stunted growth, and soft muscles and bones. The tongue is red and moss-less, and its veins are thin.

Syndrome analysis: congenital deficiency, deficient kidney essence, delayed development, short stature; deficient essence blood, thin body, soft bones and crests, and delayed closing of the cardia.

2. Kidney Yang is weak:

Symptoms: pale complexion, dull face, indifferent expression, short stature, fragile bones, soft bones and bones, chills, cold limbs, and swollen limbs. Tongue fat, yellow or white greasy, thin pulse.

Syndrome analysis: kidney main bone, kidney deficiency, bones are fragile, muscles and bones are soft, short body; kidney yang deficiency cannot reach the muscle surface, warm skin, cold limbs, cold limbs, edema, pale tongue, thin pulse ; Kidney deficiency and spleen are pale, pale, and dull.

3 Lung and kidney deficiency:

Symptoms: thin body, coughing, shortness of breath, shortness of sweat, fear of cold, short stature. The tongue is pale and mossy, and the veins are thin and weak.

Syndrome analysis: chronic illness, asthma, lung deficiency and kidney. The lung is the master of qi, and the kidney is the root of qi. The deficiency of kidney qi is not stable, and the qi is lost. Therefore, exhale more but less inhale. , Can not reach the muscle surface, chills and cold, limbs are not warm, the surface is not solid, cough is easy to sweat out, tongue is weak, pulses are thin and weak, body shape is thin, short stature, all are the symptoms of kidney yang deficiency .

4 Spleen and stomach weakness:

Symptoms: pale, pale body, poor appetite, short stature, late closing of the cardia, soft muscles, and thinning hair. The tongue is pale, greasy, and has weak pulses.

Syndrome analysis: The spleen and stomach are weak, and the blood and blood are inadequate. Therefore, the complexion is pale, the body is thin, the appetite is weak, and the stature is short; the spleen and kidney are soft, the bones are thin, the hair is thin, the tongue is thin, and the pulse is weak.

5. Liver and Kidney Yin Deficiency:

Symptoms: dizziness, uncomfortable complexion, anxious tendons, numb limbs, short stature, women's menstruation, or amenorrhea, infertility, men's nocturnal emission, hot flushes, night sweats, dry mouth The tongue is red and moss-less, and its veins are thin.

Syndrome analysis: deficiency of kidney yin, endogenous heat deficiency, discoloration, hot flushes, night sweats, dry throat, short stature, women's menstruation, nocturnal emission, men's spermatozoa; kidney yin deficiency means water does not contain wood, causing liver yin Insufficient, can not glory on the head and face, then dizziness, anxiety of veins, numbness of the limbs, red tongue and less moss, pulse count.

Western medicine diagnosis of dwarfism

Diagnostic criteria

Diagnostic criteria for pituitary dwarfism: height is 2S or 3rd percentile below normal age and gender of the same sex (determined by Stadiometer); growth rate <4cm / year; X-ray bone age lags behind the same age, same Normal mean gender is over 2 years old (evaluated according to Greulich-pyle atlas); three growth hormone (GH) challenge tests (referring to levodopa, clotin and GHRH challenge tests); peak blood GH are all <10ng / L; excluded Other factors that cause growth lag.

Dwarfism

Diagnosis: According to the patient's stunted growth, short stature, slow growth rate, X-ray bone age lags behind children of the same age, blood, pituitary hormones, and various pituitary target gland function tests, and exclude other factors that cause growth and development lag. .

Physical signs: more than 1 to 2 years of age, the onset of growth is slower, the growth rate does not exceed 4cm per year, short stature, most of the height is less than 130cm, the body is relatively symmetrical. In children, the cardia is closed late, tooth growth is delayed, and long bones are short. The brain develops normally and the intelligence is similar to that of his peers. The hair is less soft, the skin is more delicate, the skin is rich in subcutaneous fat, the bone age is younger than the age, the muscle development and physical strength are not the same as those of the children, and the personality is often kept childish. Adolescence is often delayed, and secondary sexual characteristics are absent. If there is also a gonadotrophin deficiency, it is always sexually naive. Male testes are small or cryptorchidism, the prostate is small, beards, axillary hair, and pubic hair are absent. The tone is high and fine. Women present with a naive uterus, primary amenorrhea, underdeveloped breasts, arms, and vulva, without axillary and pubic hair. From development to adulthood, the skin elasticity diminishes and wrinkles, but the face is still immature / forms a characteristic little old child appearance.

The age of secondary dwarfism growth retardation is more than 4 years old, and there may be manifestations of increased intracranial pressure such as visual impairment, headache, vomiting, and neurological symptoms such as half body weakness, lethargy, convulsions, and concurrent diabetes insipidus.

Imaging diagnosis: X-ray examination

X-rays of the wrist bone, elbow joint, and long bone end are often used to observe the appearance of the ossification center to determine the bone age, and to estimate the degree of bone age behind the actual age. The saddle is usually small. If the saddle is enlarged due to pituitary tumors and bone is damaged, further CT or MRI should be performed.

Laboratory diagnosis: GH secretion measured by growth hormone changes with age, the concentration is higher within 2 years of age, and it is maintained at a lower level in adulthood, about 1 to 5 ng / ml. The GH of pituitary dwarfism is significantly reduced, and even its basic value cannot be measured. The blood GH concentration can be measured 1 hour after night sleep or after exercise, or further challenge test.

The normal value of growth hormone is 0.34 to 1.90kU / L for males and 0.45 to 2.2kU / L for females. Pituitary dwarfism is lower than this value.

Challenge test

(1) Insulin hypoglycemia stimulation test: ordinary insulin 0.05 0.11U / kg, which is pushed in intravenously immediately. The normal response is a drop of 2.8mmol / L (or 50mg / dl) in blood glucose after excitement, or less than 50% of fasting glucose GH> 10g / L.

(2) Arginine stimulation test: 5% to 10% arginine 0.5g / kg is slowly intravenously administered within 30 minutes, and the blood GH reaches a peak after 30 to 60 minutes, with a peak value> 7ng / ml and <5ng / ml Diagnostic significance.

(3) Levodopa (L-Dopa) test is generally 10mg / kg, which is a reliable challenge test by oral administration.

(4) Coronine test: Oral clonidine 0.15mg / m2 body surface area.

The above four tests were performed to measure blood GH value before and 30, 60, 90, and 120 minutes after administration. It is normal to have a GH value above 5ng / ml in any two tests, otherwise it is a growth hormone deficiency.

5. Growth hormone releasing hormone (GHRH) test After GHRH 10g / kg intravenous injection, serum GH> 7ng / ml can exclude pituitary dwarfism.

Dwarfism

6. Thyroid, gonadal, and adrenal cortex function tests. Pituitary dwarfism often has peripheral endocrine gland dysfunction, which can measure thyroid, gonadal, and adrenal cortex hormone levels and corresponding pituitary hormone levels. Differential diagnosis

It is usually difficult to judge whether the growth and development of children aged 1 to 2 years is retarded. When they reach 5 to 6 years old, especially when they are near puberty, the diagnosis of dwarfism is not difficult, but the differential diagnosis is more complicated.

Differential diagnosis of dwarfism

1. Differentiating pituitary dwarf from other causes of dwarfism

(1) Constitutional dwarf: The age of the ossification center and the epiphysis of the patients with this disease are several years later than normal, the stature is short, and the development of gonads and secondary sexual characteristics are later than normal. Growth hormone levels were normal, and the sick children did not have any pituitary disease manifestations and other endocrine dysfunctions.

(2) Hereditary or racial dwarf: in some regions or certain ethnic groups (such as certain blacks in Africa), the physical characteristics are dwarves, there is no pituitary disease, and there is no response to exogenous growth hormone, which is a normal dwarf.

(3) Primitive dwarf (intrauterine dwarf): developmental retardation from the beginning of the embryo, the body is very small at birth, body length is only 30-35cm, weight is less than 2400g, accompanied by various congenital malformations of the body, especially the brain development is backward This kind of dwarf is ineffective for exogenous growth hormone treatment.

(4) Endocrine gland disease with dwarf body type: such as endemic cretinism and sporadic cretinism, retarded brain development, dementia or deafness, and low thyroid function, except for short limbs, significantly lower intelligence Delayed epiphyseal development, increased serum cholesterol and protein-bound iodine. Another example is Turner Syndrome with hypogonadism, short stature, primary amenorrhea, deformities such as cervical webbing, elbow eversion and congenital heart disease, mental retardation, and chromosomal abnormalities.

2. Chronic diseases caused by dwarfism include schistosomiasis dwarfism; growth and development disorders caused by chronic malnutrition; dwarfism caused by poor growth of bones and cartilage and chronic visceral diseases cause short stature.

Dwarf test

1. Growth hormone challenge tests commonly include arginine, insulin, clonidine, L-dopa, exercise, and sleep challenge tests. Growth hormone peak <10ng / ml.

Dwarfism

2. 12h nocturnal growth hormone stimulation test showed reduced pulse.

3 The growth hormone releasing hormone test identifies pituitary and hypothalamic lesions.

4 Growth media measurements are often below normal.

5. Blood T3, T4, and TSH were mostly normal or low.

6. Bone age determination is often delayed.

7. Women undergo chromosome tests to exclude Turner syndrome.

8. Head-occupying lesions can be used for skull X-rays and CT imaging.

Dwarfism Treatment

1. There are strict indications for the application of growth hormone. The younger the age of application of growth hormone, the better. For each dose of 0.7U / kg of recombinant DNA growth hormone (hGH), one week's dose is better for daily injection. The drug is reduced for 2 weeks, and it is reduced for a few months and maintained for 1 to 2 years, or even 5 to 6 years or longer. It can also be injected subcutaneously with hGH 0.12U / kg once a day for one year. The growth rate in the initial use stage is often significantly accelerated, and the height and weight increase rapidly, but the callus and sexual characteristics do not change significantly. After treatment, 50% of patients can reach normal height. During the course of treatment, abundant protein must be supplied. Since 1985, GHRH has been bioengineered for clinical use. Its usage is GHRH1-29 (groliberin) 30-60 g / kg and hGH (genotrepuin) 0.1 U / kg, 30 minutes before going to bed every night with a microinjector pump for continuous subcutaneous injection of the abdominal wall. The course of treatment is 6 months, and 40% to 80% of cases respond to GHRH stimulation.

2. When androgen is treated with hGH, it should not be applied at the same time or prematurely, so as to avoid early bone fusion. For those with poor GH efficacy, synthetic steroid hormones such as nandrolone phenylpropionate can be used, but it is necessary to master to make the bone age significantly less than the age, and generally the bone age is more than 5 years behind. If the diagnosis is clear, it should be applied from the age of 8 to 12 years; when the suspect is diagnosed, the drug should be started after the age of 14 years, the dose is 1 to 1.5 mg / kg, every 2 weeks, intramuscular injection, and the treatment period is half a year. After 3 to 6 months of rest, the treatment can be repeated, but the bone age needs to be reviewed. If the difference between bone age and age is less than 3 years, this medicine is temporarily not used. After treatment, the height can be increased by about 10cm per year, the appetite is increased, the weight is increased, the muscles are strong, the physical strength is strong, and the external genitalia is developed. The male effect is better than the female.

3 Chorionic gonadotropin (HCG) is generally considered to be better applied from near sexual developmental age. The dosage is 500 ~ 1000U, subcutaneous injection, twice a week, a course of treatment for half a year; or 1000U once every other day, intramuscular injection, 500U after 2 weeks, twice a week, a course of treatment from March to April, can get a certain effect, Stimulating the development of gonadal and secondary sexual characteristics.

Dwarfism

4 Thyroid preparation is the most suitable for those with hypothyroidism, or combined with Nandrolone phenylpropionate plus a small dose of thyroid tablets 20 ~ 40mg / day. Generally should not be applied routinely, otherwise the effect of hGH will be reduced.

(B) surgery or radiation therapy

Patients with dwarfism caused by intracranial tumors should be treated surgically. Transcranial or transsphenoidal surgery can be used, plus postoperative radiotherapy; those with tumors less than 1 cm2 can consider linear accelerator radiation therapy or gamma power therapy.

After treatment with growth hormone, pituitary dwarfism can promote growth, correct metabolic disorders, promote protein synthesis, strengthen the use of fat storage, and normalize glucose metabolism. The application of anabolic steroids can promote protein synthesis and growth, but the adverse effects of virilization and rapid bone growth should be avoided or reduced; peripheral endocrine glands (thyroid, adrenal cortex, gonads) have reduced function and are replaced by supplements of corresponding hormones And Chinese medicine treatment, play a certain role in promoting growth and development and alleviating related symptoms.

Dwarf preventive care

Children with intrinsic symptoms should actively prevent the occurrence of heart failure and infection. Intrinsic prevention refers to the prevention of congenital diseases. Preventive measures should extend from pre-pregnancy to pre-natal:

Pre-marital medical examinations play a positive role in preventing birth defects, and the magnitude of the effects depends on the inspection items and content, mainly including serological tests (such as hepatitis B virus, Treponema pallidum, HIV), reproductive system tests (such as screening for cervical inflammation), General physical examination (such as blood pressure, electrocardiogram) and asking family history of the disease, personal past medical history, etc., do a good job of counseling genetic diseases.

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

Once abnormal results occur, it is necessary to determine whether to terminate the pregnancy; the safety of the fetus in the uterus; whether there are sequelae after birth, whether they can be treated, what is the prognosis, and so on. Take practical measures for diagnosis and treatment.

The prenatal diagnostic techniques used are: amniotic fluid cell culture and related biochemical examinations (the amniocentesis time is preferably 16 to 20 weeks of pregnancy); determination of blood and amniotic fluid alpha-fetoprotein in pregnant women; ultrasound imaging (applicable around 4 months of pregnancy) ); X-ray examination (after 5 months of pregnancy) is beneficial for the diagnosis of fetal skeletal deformity; Sexual chromatin measurement of villous cells (at 40 to 70 days of conception), predicting the sex of the fetus to help diagnose X-linked genetic diseases; Application of genetic linkage analysis; fetal microscopy.

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