abnormal body shape
Introduction
Introduction Body abnormality refers to the significant difference between the length of a person and the length of a normal person of the same race, age, and gender. Under normal circumstances, people's growth and development have certain rules. Children and adolescents are in a period of growth and development, and the percentage of growth in infants and young children is relatively high. At 13 and 14 years old, there is another rapid increase, and the physical changes after adulthood are small. Factors affecting body shape development include: the effects of genetic and physical factors on growth and development; nutritional deficiencies and metabolic disorders such as iodine deficiency (local dysentery) vitamin D deficiency (rickets) systemic chronic diseases caused by Confucianism; endocrine dysfunction such as Growth and development disorders such as growth hormone (GH), thyroid hormone, insulin and sex hormones are common, and the nervous system, especially hypothalamic dysfunction, often causes growth and development disorders.
Cause
Cause
mechanism
First, congenital factors
Genetic and physical factors are associated with tall and short stature. Such as constitutional giant disease, delayed growth of physical growth or delayed puberty, familial short stature and so on.
Second, nutrition or metabolic disorders
Adults suffering from chronic diseases causing severe systemic nutrition or metabolic disorders can cause growth and development disorders, such as schistosomiasis, vitamin D deficiency rickets, iodine deficiency thyroid, chronic liver disease, chronic kidney disease, diabetes, Congenital or acquired cardiovascular disease, etc., cause developmental disorders and produce strains.
Third, central nervous system diseases
Such as encephalitis, meningitis, tuberculosis, syphilis, tumors, etc., the incidence of infants and children, can cause growth and development disorders.
Fourth, endocrine dysfunction
Growth hormone, thyroid hormone, insulin and sex hormones are closely related to growth and development.
(a) growth hormone (GH)
1. Excessive growth hormone excessive secretion of GH in the anterior pituitary gland, mainly seen in the anterior pituitary GH secretory cell tumor, a small number of hyperplasia or adenocarcinoma. Excessive GH acts directly on systemic tissue cells (except L in the brain or hypertrophy through the growth hormone medium (Sorna-tomdin, SM) for promoting the growth of the body; GH acting on the liver and kidney forming the growth factor) (SM), SM and cartilage collagen tissue and other proteins increased synthesis, promote bone growth; due to enhanced protein anabolism, systemic soft tissue and organ hypertrophy. Pituitary GH secretory tumor occurs before the formation of giant disease, such as occurs Before and after puberty, a plastic hypertrophy of the rubbery end is formed. If it occurs in the adult bone marrow, it forms a plastic hypertrophy.
2. The growth hormone is too small. The onset of pituitary preservation of Confucianism begins in infants and children and children, due to insufficient or lack of GH secretion or growth retardation caused by p. It is currently believed that GH acts on certain target organs such as liver and kidney, and produces interleukin (SM). After SM binds to protein, it acts through blood circulation to various tissues of the body. According to the response of GH and SM to exogenous GH, the Confucianism is divided into 4 types:
(1) Work type: The M value of plasma GH stone is lower than normal, this type is more common. After administration of exogenous GH, SM levels were significantly elevated. The treatment with GH is better.
(2) Type II: plasma GH levels are high and SM is low. It may be that the lack of GH receptor in the liver cannot cause SM. Laron is a genus.
(3) Type III: plasma GH, SM water is low, not sensitive to exogenous GH, and may be abnormal in the anterior pituitary and liver.
(4) Type IV: Plasma GH and SM are normal, and exogenous GH is ineffective, but SM can be synthesized, which may be caused by the surrounding tissue being insensitive to SM, such as pygrng strain.
(two) thyroid hormone deficiency or deficiency
In the fetal period and children and adolescents, thyroid hormone deficiency and stagnation are mainly found in areas with serious environmental iodine deficiency. The iodine deficiency in the environment during pregnancy is severe, and the concentration of indole-iodine ions in the plasma of pregnant women is reduced, which makes the thyroid hormone (T and T.) secreted by the thyroid gland insufficient. Most of the blood T3 binds to thyroxine-binding globulin (TBG) with only a small amount of free T3L, and the bound Ts cannot pass through the placental barrier. During pregnancy, due to the increase of estrogen, the blood TBG increases, so there are fewer free T3 children. The free T3 through the placenta can not meet the needs of the fetus. The T3 and T4 required by the fetus must be secreted by the fetus's own thyroid gland. However, the iodine required for the fetal synthesis of T3 must come from the mother. The fetus is clearly at a disadvantage in the competition with maternal intake of iodine. Due to insufficient iodine, the fetus's T3 is insufficient, the growth and development of the fetus, especially the brain's differentiation and developmental disorders, the brain weight is reduced, the cortex is thinned, the nerve cells are reduced in size, and the arrangement is disordered or displaced. Due to the developmental disorder of the cortical motor area, the patient develops nervous sputum oil in the collar developmental disorder and causes deafness; due to the developmental disorders of the frontal lobe and parietal lobe, the mental retardation is low. If the environment is still iodine-deficient after birth, due to the growth and developmental disorders caused by thyroxine deficiency after birth, it not only makes the body short, the bones are backward, and there is puberty. The lack of thyroid hormones hinders the development of the body due to protein synthesis disorders in various tissues.
(3) Sex hormone deficiency or deficiency
Gonadal dysfunction occurs before bone marrow fusion. Due to lack of sex hormones, bone can be delayed, bones are overgrowth, body size is high, limbs are slender, second sex is absent, and gonadal dysplasia.
(4) The main lesions of congenital tissue disease (Marfan syndrome) are manifested in the bone, eye and cardiovascular system. High body, slender limbs, less subcutaneous fat, myopia, crystal dislocation and congenital cardiovascular disease.
Examine
an examination
Related inspection
Child growth and development test growth hormone challenge test growth hormone
First, medical history
(1) Family history
Genetic factors have a certain influence on the tall and short stature, and should pay special attention to understanding.
(2) History of pregnancy and childbirth
The mother's history, nutritional status, and childbirth history (premature birth, dystocia, etc.) during pregnancy can cause growth and development disorders in infants.
(3) Children and pre-puberty development, nutritional status, and the history of various chronic diseases should be inquired in detail.
Adolescence is a transitional period from children to adults. Normal puberty development is divided into: 1 initial stage, with a sudden increase in physical form, girls 9-12 years old, boys 10-13 years old. In the middle of the second period, the development of secondary sexual characteristics was dominant, and the growth rate of the body type gradually slowed down. The girls were 13-16 years old and the boys were 14-17 years old. 3 Late stage, reaching the stage of maturity, 17-23 years for women and 18-24 years for men. Such as the early development of puberty, may be early puberty, precocious puberty, physical giants, etc., should look for the cause. Children and pre-pubertal chronic disease history such as liver disease (cirrhosis), tuberculosis (spinal, meningeal congenital or acquired cardiovascular disease, diabetes, certain infectious diseases (schistosomiasis) can affect fertility development. The history of malnutrition, environmental iodine deficiency, and vitamin D deficiency is of great significance for the etiological diagnosis of short stature.
Second, physical examination
There are certain rules for the growth and development of normal people. According to the large amount of measurement data on the body length and body weight of normal men and women, the normal standard value is obtained as the basis for assessing whether the body is normal. Therefore, for each patient should be measured: height, weight; also measure the finger distance: the maximum distance between the left and right fingers when the two arms are leveling; measure the amount of the upper part (the distance from the top of the head to the upper edge of the pubic symphysis X) The ratio of the upper edge of the pubic symphysis to the sole of the foot) and the ratio of the upper/lower part are used as an auxiliary index for judging. The secondary sexual characteristics and the development of the gonads should also be checked to see if they are consistent with age, gender, and physical development. Whether the appearance is rough or not. Face, hypertrophy of the extremities, enlargement of internal organs, and increased subcutaneous connective tissue often lead to diagnostic clues.
Third, laboratory inspection
(1) Determination of plasma growth hormone (RIA method)
Normal human basal state (average 0.38 nmol/L in 2 years old in the morning air; 0.19 nmol/L in 2-4 years; 0.047-0.14 nmol/L in 4-16 years. Giant disease and acromegaly > 200.94 nmol/L; can not be detected in pituitary Linru. The peak of GH occurs during normal sleep, and the GH tumor disappears regularly.
(2) Glucose inhibition test (oral glucose tolerance test)
Hyperglycemia and acromegaly have elevated blood glucose, and GH is not inhibited to below 0.24 nmol/L.
(III) Determination of growth factor C (SMC)
The normal value is 75-200 ng/ml, and the GH tumor is significantly elevated.
(D) Determination of plasma insulin-like growth factor (IGF-1)
Adolescent males were (435+ng/ml, females were (570 t 25)+ng/ml. Female puberty IGF-I was significantly lower than the above values, supporting the diagnosis of Laron and Pygmy dwarfism. IGF-I was significantly elevated in GH tumors. high.
(5) The increase of 24H urinary GH concentration is helpful for the diagnosis of GH tumor.
(6) Incentive test
1. Exercise test climb stairs, boarding and other sports 10 minutes before and after the test 30.60, 90, 120dn blood sampling GH, normal people peak at 30 or 60min, peak > 0.33 nmol / L. The peak of pituitary Linrui.
2. Insulin hypoglycemia test Oral insulin 0.05-0.IU/kg intravenous injection, before and after injection 30, 60, 90, 120 dn blood sampling, blood glucose, GH, normal reaction after excitation GH> ng / ml, pituitary Sisters GH.
3. Arginine stimulation test arginine 0.5 g / kg intravenous injection, method and clinical significance of the same insulin test. The test should first check the thyroid function. If the function is reduced, it can affect the result. It should be treated first and corrected.
4. L-dopa test weight
(7) TBll excitement test
After excitation, plasma GH>basic value plasma GH50%, and the absolute value of plasma GH increased by >0.47 nmol/L, supporting the diagnosis of GH tumor.
(8) Human growth hormone releasing hormone (GHRH) test
Intravenous GH RH 10ug/kg, GH>7 nmol/L after injection to rule out the diagnosis of pituitary Baorui.
(9) Other tests
Thyroid function test; examination of gonadal function (FSH, LH, E, T) adrenal function test and chromosome examination. Blood calcium, phosphorus, blood sugar check, etc.
Fourth, equipment inspection
X-ray film such as the lateral position of the skull to observe the size of the saddle, whether the anterior or posterior sinus is damaged, whether the mandible is growing, whether the skull is thickened or osteoporosis, and whether there is a lesion in the skull. X-ray bone film to observe whether the bone marrow fusion, ossification center growth and development, bone age is delayed (pituitary dwarf patients at least 4 years delay) Cranial CT, MRI for the diagnosis of pituitary microadenomas.
Diagnosis
Differential diagnosis
First, the differential diagnosis of body size
(1) Giant disease and acromegaly
Gigantism and acromegaly (Acromeg-aly) are anterior pituitary growth hormone cell adenomas, hyperplasia or adenocarcinoma, which secrete excessive growth hormone (GH), causing hypertrophy and endocrine of soft tissues, bones and internal organs. A metabolic disorder.
1. Giant disease begins before puberty (before bone marrow is not fused). It is generally considered that the height exceeds the average of three races of the same race, the same age, and the same sex as the giant syndrome. The literature reports that adult males are more than 2.0 m tall and females are greater than 1.85 m. In the early stage, patients with giant disease showed excessive growth and development, proportional development of the whole body, overgrowth of the trunk and internal organs, muscle development, early development of gonads, strong sexual desire, increased basal metabolic rate, high blood sugar or diabetes. Late patients begin to decline, lack of energy, muscle relaxation, limb weakness, gonad atrophy, mental retardation, reduced metabolic rate, and slow heart rate. The recession lasted about 4-5 years and generally died in the early years. Mostly GH cell proliferation.
2. Acromegaly onset in the adolescence, the latter slippery can be developed into a gelatinous hypertrophy. Giants patients continue to be stimulated by excessive GH after the bone marrow is closed, and can develop into acromegaly. The onset is slow, and the symptoms are divided into two phases: 1 early (formation period) multiple endocrine glands are hyperactive. The earliest manifestations of the hand and foot are progressive and progressive, and the appearance is rough and the typical appearance is anthropomorphic. Due to the soft tissue hyperplasia of the head and face, the scalp, thickening and thickening of the skin, multiple wrinkles, thick lips, large tongue, large speech, low speech and low pitch; the growth of the head bones makes the face grow. The mandibular enlargement causes the teeth to be sparse, the eyelids are up, the forehead bones, and the tibia are enlarged and prominent; the ear and nose are grown; the appearance is ugly. The long bones of the limbs cannot grow but can be thickened. The back of the back of the hand is thick and wide, and the fingers and toes are short and thick, forming acromosis. The skin of the whole body is thickened, rough, sebum overflows, hair increases, and pigmentation. Male testicles increase, sexual desire is strong; female breasts can be accompanied by galactorrhea, but less menstruation or even trouble. Patients often have headaches, mainly in the frontal and bilateral fronts. The basal metabolic rate is increased, blood lipids, blood sugar are increased, blood phosphorus is increased, and blood calcium and alkaline phosphatase are normal. The course of disease is longer and more than ten years or more. X-ray examination showed enlargement of the sella, hairy changes of the fingertips, osteoporosis of the spine and deformity; 2 patients with more forgetfulness in the recession period, followed by apathetic, metamorphosis, skin, hair and muscle decay, pituitary adenoma enlargement And surrounding tissue compression group, surrounding target gland hypofunction group. Due to metabolic disorders. Low resistance, more deaths from infection, complications of diabetes, heart failure and so on. The diagnosis basis of this disease: typical anthropoid appearance, acromegaly and other signs; height male > 2.0 m, female > 1.85 m; X-ray skeleton characteristics; relevant laboratory tests to support the diagnosis of this disease.
(2) Constitutional giant disease
There is no significant difference compared to the height of pituitary giant disease. The constitutional giant is a normal variant, non-pathological and may be related to heredity. The growth and development of various parts of the body are well-proportioned, no endocrine dysfunction, no metabolic disorders, no laboratory evidence, no abnormal findings on X-ray bone fragments.
(3) Advance puberty
Adolescence is a transitional period from child development to adulthood. It usually begins with the appearance of male and female signs until physical development stops. This period of growth reached the highest speed. If a woman is 8 years old, the male begins to develop sexually before the age of 9 and is called preteen. Due to the early onset of puberty, the child grows up to the highest speed, and the height is far beyond the other children of the same age. Sexual development is early, and the second sexual characteristics appear earlier, but the final height is no different from that of the adult. No endocrine dysfunction and metabolic disorders exist.
(4) Sexual dysfunction and high body type
Due to sexual dysfunction before bone marrow fusion. Due to insufficient or lack of gonadotropins (androgens and estrogens), bone marrow fusion is delayed and bone overgrowth is caused.
1. Hypothalamic hypogonadism. The hypothalamus secretes a variety of hormones (called release hormones). Any lesions in the hypothalamus, such as craniopharyngioma, glioma, inflammation, etc., can cause hypothalamic gonadotropin-releasing hormone ( GnRH) is lacking or insufficient. Such as early onset, in addition to 5; from hypogonadal dysfunction, but also formed a large body type, accompanied by other hypothalamic dysfunction, such as diabetes insipidus, mood swing, sleep disorders, thermoregulatory disorders, appetite changes 0 fat or Thin and so on. If it is a tumor, there may be local compression symptoms such as headache, visual field defect, and decreased vision. X-rays can be found in saddle changes and saddle-area lesions. Reduced gonadotropin in the urine. The performance of hypopituitarism.
2. In patients with pituitary gonadotropin deficiency hypofunction, except for hypogonadism, other pituitary functions are normal. Testicular development is not developed during male development, and testicular biopsy germ cells are immature. Urinary gonadotropin levels are reduced. May be related to heredity.
3. Gonadal lesions cause sexual dysfunction
Cui Wan Jingqu tube hypoplasia (Klinedeiter synthesis); hereditary disease, due to sex chromosome aberrations, sex chromosome examinations are mostly (47)XXY or (48)XXXY group type, can also be XXY/XY, XXY/XXY, The clinical manifestations of chimeric types such as XY/XXY are male appearance, low sexual function, high body size, and mild mental retardation. Cui Wan is small and solid, and the testicular biopsy sees the essence of the tube and the adenomatous hyperplasia of the cells. Increased urinary gonadotropin content chromatin examination is contrary to the patient's external gender (normal male sex chromatin negative person knows that the pill is underdeveloped or innocent: it may be due to fetal developmental disorder, or due to acquired testicular inflammation. Trauma, radiation exposure and other factors damage the testicles. The onset of the disease can produce high body size in early years. The patient has small halo, easy to be mistaken for cryptorchidism. Urinary tropin increased, urine 17-ketosteroids decreased. Residue of the derivative or glassy pre-puberty testicular tissue.
Differential diagnosis between hypogonadism and high body type: urinary gonadotropin content can be measured. If the content is increased, the hypothalamus and pituitary are normal; if the content is reduced, the hypothalamic and pituitary lesions are reflected, and then the target is Choose the sputum, such as the hypothalamic pituitary function, X-ray sphenoidal film, testicular biopsy, sex chromatin or sex chromosome examination.
(5) Marfan Syndrome
This syndrome is a congenital connective tissue disease. It has a family history and is clinically elongated. The hand and foot fingers are slender and spider-like toe. The thoracic neck is long and narrow, and it is often accompanied by congenital cardiovascular disease. It can have high myopia and dislocation of the lens. Wait.
(6) High prochlorazuria
The disease is an autosomal recessive hereditary disease. The patient's bones, cardiovascular lesions and eye lesions are similar to Ma Fan syndrome. The body is slender, the limbs are slender, the ligaments are slack, the two tidal flushes, the hair is thin and sparse, and the mental development is poor. . Increased urinary proline content (cyanide nitroprusside test).
Second, short stature
The height is generally considered to be three standard deviations below the mean of the same race, age, and gender, and is called a short stature. Adults are mostly under 125-130 cm.
(1) pituitary dwarfism
It refers to the growth and developmental disorders caused by hypofunction of the anterior pituitary or insensitivity to growth hormone (GH). Onset in infancy or childhood can be caused by GH deficiency alone. The vast majority are idiopathic, the cause is unknown (primary), and a small number of tumors due to pituitary and adjacent tissues, infection J injury J line damage. Caused by vascular disease.
1. Clinical features 1 Somatic growth retardation, the onset of infants is generally normal at birth, about half of the children begin to lag behind normal children of the same age at the age of 1-2, and the other half grows and develops at 5-6 years old. Behind normal children of the same age. The average annual growth index is long, the upper part is lower than the lower part, and the body type ratio is the same as that of young children. The face is childish. The intelligence is normal; 2 the bones are backward, the long bones are short, and the height is less than 130 cm. The growth and development of the ossification center is slow, the bone age is more than 4 years behind the actual age, the bone marrow is not fused; 3 the sexual organs are not developed and the second sexual characteristics are lacking. 4 Intelligence is commensurate with age. Because of the tumor in the sellar region, there may be local compression or high intracranial pressure.
2. Diagnosis based on 1 medical history characteristics. 2 measure the height. Body weight, finger spacing, upper amount, lower amount, and upper and lower ratios. 3X-ray examination of the carpal bone, elbow joint, long bone end, observe the fusion of ossification center and bone marrow, calculate the age of the bone than the actual age delay; observe changes in the sella and adjacent tissue to help the cause diagnosis. 4 skull CT, MRI should be applied when necessary. 5 laboratory tests to support the diagnosis of this disease, such as serum GH radioimmunoassay, normal people at 1-5ng / mL, the disease decreased. Excitation tests such as insulin hypoglycemia test, arginine stimulation test, and L-DOpa test are necessary. The normal value of GM test and growth factor was 0.5-2.0 ng/mL, and those with pituitary gland were lower than this value. 5 to exclude short stature and other conditions caused by short stature. 1 chromosome examination, etc. help differential diagnosis.
(2) Delayed constitutional growth or delayed puberty
This situation often has a family history, which is more common in men. Skeletal development and gonad development are delayed by about 4 years compared with normal children, and puberty is later than children of the same age. After puberty, 3-24 years old, bones and gonads develop rapidly and reach normal human standards. There is no endocrine gland dysfunction, GH is normal, and there is no evidence of systemic chronic disease.
(3) primordial short stature
1. The cause of primordial dwarfism is unknown. From the beginning of the embryo, the growth is slow, the body is small at birth, the growth is slow, and the proportion of each part of the body is appropriate. Intelligence and appearance are consistent with age. Adolescent gonads are normal and have fertility. Other hormones in GH and pituitary are normal, and the thyroid and adrenal cortex function normally. A small number of patients are associated with various congenital malformations, mental retardation, and premature aging.
2. Premature aging is rare. Normal at birth, slower growth and development within the age of each other. After the second year of age, the growth and development significantly slowed down or even stopped. At the age of 3, the appearance of the thin old man appeared. There may be systemic atherosclerosis, blood lipids may increase, and there may be hypertension. Intelligence is generally normal. The bone ratio and bone age are normal. The cause is unknown or related to heredity.
(D) hypothyroidism short stature hypothyroidism occurs in the fetus or neonatal period incubation; occurs in childhood called juvenile fluid edema. If adequate treatment is not given early, both can lead to growth and developmental disorders.
1. Insomnia is generally unresponsive to birth performance, drowsiness, difficulty in feeding, bloating, constipation, umbilical hernia, crying hoarseness, etc., with the following specific manifestations of age: 1 abnormal physical body, short stature, short limbs, upper volume Greater than the lower amount. 2 small face, head big, nose sag, nose flat and wide, two eyes wide and small, horizontal, facial and eyelid edema, pale face, thick lips, large tongue and often stick out of the mouth, runny. 3 mental retardation. The expression is sluggish, unresponsive, slow in language and low in voice, and can be accompanied by hoarseness. (Localized small smear 4 people are dry and cold, rough, skin color sallow, hair is scarce and dull, can be effective liquid edema. 5 skeletal growth retardation, Late teething, delayed door closure, delayed bone age, 3 thyroid enlargement or atrophy.
Diagnosis basis: 1 Local people have an epidemiological history. 2 has a typical posture and a small face. 3 thyroid function tests have indications of hypothyroidism. The measurement of the sputum gland is helpful for the diagnosis of the cause: localized more normal or even increased; thyroid autonomic lesions and thyroid development disorders, antithyroid drugs caused by thyroid dysfunction The cause of the suction ''' lower rate. 4 Skeleton X-ray film shows that the bone age is significantly behind the actual age.
2. Juvenile drip edema is generally a typical face of no stagnation, with low metabolic manifestations such as cold, less sweat, dry skin, mild edema, low body temperature, slow heart rate and other signs. Intellectual development can have varying degrees of barriers. Skeletal development is delayed, and the body is short, but to varying degrees. Laboratory tests support the diagnosis of hypothyroidism.
(5) Short stature caused by bone diseases
1. Chondroital insufficiency congenital disease, often family history, the cause is unknown. Mainly for cartilage ossification or lack, but the periosteal ossification is normal or increased, causing the long bones of the extremities not to grow long, can only grow to the lateral width, so that the limbs are short and thick, showing the body shape of the forest, the bone end is significantly enlarged as a childlike , lumbar lordosis, hip kyphosis, beaded ribs and help the lower edge of the valgus. Can have a small face. The skin is thick and wrinkled. The intelligence is normal. Sexual function is normal. X-ray examination showed that the long bones were short and thick, the bone ends were enlarged, the periosteum had obvious lines, the leg bones were short, and the bones were long and curved.
2. Congenital osteogenesis imperfecta is mainly bone dysplasia, thin cortical bone, loose sponge, fragile bone and easy fracture and limb malformation. Skeletal development is delayed, short stature after puberty. Have congenital deafness. The sclera is thin blue. Diagnosis mainly refers to bone X-ray examination, including osteoporosis, thin cortex, multiple fractures, bone idiots and deformities.
3. Kashin-Beck disease is a chronic endemic disease. Occurs in children and adolescents. The main lesions are premature ossification of the tubular bone marrow, development of the bone axis and destruction of the articular cartilage. Young people develop short stature due to premature skeletal skeletal development. Symmetrical swelling and flexion of the finger joints, short-term deformity in the late stage, and thickening of the joints. The knees are swollen and deformed into "O" shaped legs or "X" shaped legs. Diagnosis basis: 1 patient from the local ward; 2 chronic symmetry joint thickening, deformity, short finger deformity with short stature; 3X line examination of the early metacarpophalangeal bone marrow line rugged undulate or jagged; late bone end destruction, deformation Large, the joint cavity is narrow, the articular surface is not neat, and the joint is deformed.
4. rickets short stature
(1) Vitamin D deficiency rickets: due to vitamin D deficiency, calcium and phosphorus metabolism are abnormal, and bone growth and development disorders. More common in infants and young children, such as the disease can continue to puberty can lead to short stature clinical features such as skull softening, cranial malformation, large door and closure delay, late teething, beaded ribs, chicken breast or funnel chest, limb bone marrow end, Lower extremity deformity, posterior or lateral curvature of the spine. Pelvic deformation, etc. Blood calcium is normal or slightly lower, blood phosphorus is lower than normal (adults 0.87~1.45 nmol/L, children 1.45~1.78 nmol/L, blood alkaline phosphatase increased state normal 15-20 gold units, adult 5-13 gold The blood calcium and phosphorus calcification of the unit is blurred. Active period: the bone marrow end of the long bone is widened, and the calcification band disappears as a brush. The cup is mouth-shaped, the bone marrow cartilage is widened. The long bone bone is decalcified, osteoporosis, and the density is reduced. There is a backbone bend.
(2) Renal rickets: 1 various chronic kidney diseases (nephritis, pyelonephritis, polycystic kidney disease, etc.) cause high blood phosphorus and hypocalcemia caused by renal failure, causing kidney rickets, such as onset can cause growth and development in childhood Obstacles cause short stature. 2 chronic renal tubular dysfunction, such as pseudohypoparathyroidism. For congenital diseases, renal tubular cells do not respond to parathyroid hormone, resulting in reduced urinary phosphorus emissions resulting in hyperphosphatemia and hypocalcemia. More common in children under 10 years old. Children with short J fat, round face, metacarpal and short bones, cartilage development disorders, subcutaneous calcification, episodes of sputum and mental disorders. High blood phosphorus, low blood calcium, and normal alkaline phosphatase. Plasma parathyroid hormone increased. No response to parathyroid hormone therapy. The EIlsWOrth-Howard test is helpful for diagnosis. Method: Fasting intravenous injection of parathyroid hormone 200 U, 3 h before injection to 3-sh after injection, urine is administered once a month to measure urinary phosphorus. The amount of urinary phosphorus in normal people is more than 2.5 times, or even 5-6 times, before injection. The disease is no more than 2 times. False pseudo-hypoparathyroidism can also cause short stature, clinical manifestations and pseudo-hypoparathyroidism are the same, but no sputum, normal blood, calcium and phosphorus, effective for parathyroid hormone treatment. De-Toni-Debre-Fanconi. Syndrome due to proximal tubule reabsorption of phosphate. Glucose, amino acid disorders, increased urinary phosphorus, decreased blood phosphorus, and increased blood calcium leading to rickets.
(6) Precocious puberty
Precocious puberty generally refers to those who begin sexual development before the age of 6. Due to the action of androgen, the physical development of children at the beginning of the disease often exceeds that of children of the same age, but due to the early bone marrow fusion, the adult is short stature. The physique is not uniform, the upper amount > the lower amount.
(7) Turner syndrome, Noonan syndrome
Turner syndrome, also known as gonadal dysplasia syndrome, is caused by ovarian dysplasia or hypoplasia. The patient's external appearance, short stature, cervical elbow valgus, primary menstruation. The second sexuality is not developed. The face can be more dull and the intelligence can be lowered. Some have visceral deformities. Increased gonadotropin production in the urine after puberty. The karyotype is 45, XO. Oral or vaginal epithelial cell chromatin test negative for the diagnosis of this disease. Noonan syndrome, also known as pseudo-TUrner syndrome, has a similar appearance to TUmr syndrome, but the karyotype is normal and urinary gonadotropins are not increased.
(8) Short stature due to systemic nutrition or metabolic disorders
Children with chronic diseases before puberty and cause systemic severe nutritional and metabolic disorders can cause growth and development disorders. Various chronic infectious diseases commonly seen in children such as tuberculosis, schistosomiasis, congenital or acquired cardiovascular disease, and chronic liver disease. Chronic kidney disease, diabetes, etc. can cause short stature. Diagnosis is mainly based on the characteristics of the primary disease.
