Growth hormone deficiency
Growth hormone deficiency (GHD) is a growth and development disorder caused by hypothalamic and pituitary dysfunction or abnormalities. It is short stature and has been called pituitary dwarfism. The disease is caused by primary (GH1 gene deficiency, idiopathic hypothalamic, pituitary dysfunction or pituitary dysplasia), secondary (intracranial tumor, head trauma or radiation injury, intracranial infection, etc.) and temporary ( Trauma). GHD can be a single growth hormone deficiency, but can also be associated with other hormone deficiency in the pituitary.
Second, the diagnosis points
1. Clinical manifestation
(1) Height and weight at birth are normal. After 1 year of age, the body is short, or the body is short when born. The growth rate of the body is slow, and the growth rate of height is 4cm per year. The height is below the standard deviation of 2 or more than the average of the same area, the same sex, and the normal age of the same age.
(2) The child is symmetrical, short and facelike, with a baby-like face, small jaw, short neck, subcutaneous fat in the chest and abdomen is relatively full, small hands and feet, normal proportion of limbs and upper and lower body, and normal intelligence.
(3) accompanied by insufficient secretion of thyrotropin, adrenocorticotropic hormone and gonadotropin. In addition to short stature, there may be symptoms of hypoglycemia, or mental retardation, lack of sexual development during adolescence.
(4) Secondary growth hormone deficiency caused by intracranial tumors, such as diabetes insipidus, headache, vomiting, visual field defects and other symptoms of increased intracranial pressure.
2. Auxiliary inspection
(1) Growth hormone (GH) secretion function test Since GH is pulsed secretion, a single measurement of serum GH does not contribute to the diagnosis of GHD, and a GH release stimulation test must be performed. The method is as follows: 胰岛素 Insulin hypoglycemia test: insulin dose, <4 years old 0.1 u / kg, > 4 years old 0.15 u / kg. Fasting after supper on the 1st day before the test, after collecting blood in the second sky abdomen, insulin (diluted to 1ml with normal saline) quickly iv, then blood was measured at 20, 30, 60, 90, 120min, and blood glucose was measured simultaneously. It is required that the blood glucose at 20 or 30 minutes is reduced to 1/2 of the fasting blood glucose. Arginine test: 10% arginine solution is calculated according to 0.5g/kg (maximum amount is 30g), diluted with water for injection into 10% solution, intravenously input within 30min, before input and after input 30, 60, 90, Blood was taken for 120 min to measure GH. Clonidine test: oral fast-acting clonidine 0.004mg/kg, before and after oral administration, 30, 60, 90, 120min, respectively, blood was taken to measure GH.左 Levodopa test: levodopa 10 mg/kg was taken orally on a fasting stomach, and GH was taken before oral administration and 30, 60, 90, and 120 minutes after oral administration. GH determination results: GH peak <5g / L, indicating complete GH deficiency, > 5g / L but <10g / L indicates GH partial deficiency, > 10g / L indicates normal GH secretion. Since any stimulation test has a false positive rate of 15% (referred to as low GH secretion), GHD must be diagnosed when the two stimulation tests (one of which must be intravenous) are not normal.
(2) serum interleukin (IGF-1), interleukin binding protein 3
(IGFBP3) Low level support for the diagnosis of GHD.
(3) X-ray films of the left hand and wrist bones indicate that the bone age is delayed for more than 2 years.
(4) The lateral position of the skull, CT or MRI examination to understand the pituitary morphology, whether there is a tumor.
(5) Blood T3, T4, TSH measurement or TRH stimulation test and gonadotropin-free hormone (LHRH) stimulation test to determine the presence or absence of thyroid and gonadotropin deficiency.
3. Differential diagnosis
(1) Familial short stature Parents are short in height, and the height of children is usually around the third hundredth of the average, but its annual growth rate is > 4cm. The age of bone is commensurate with age, and both intelligence and sexual development are normal.
(2) Delayed constitutional puberty Boys are more common. After 1 or 2 years old, they have growth retardation, bone age is backward, and puberty is postponed. Most of the parents have similar medical history. Once such children begin to develop, their growth accelerates and their height is still within the normal range.
(3) Intrauterine growth retardation (IUGR) The height and weight of birth are lower than normal newborns, and the growth curve is lower than the 3rd percentile. The GH level is normal or decreased.
(4) Turner syndrome, also known as congenital ovarian hypoplasia, is characterized by growth disorders, short neck, neck, low hair, elbow valgus and so on. The somatic cell karyotype is 45, XO, and can also be in various chimeric types.
(5) Skeletal developmental disorders, such as dysplasia of the cartilage, showing short limbs and a non-uniformity. Bone X tablets can be clearly diagnosed.
(6) Other chronic diseases such as heart, liver and kidney, malnutrition and genetic metabolic diseases such as mucopolysaccharidosis and glycogen accumulation diseases can cause short stature.
1. GH replacement therapy Gene recombinant human growth hormone (hGH) has been widely used in the treatment of this disease. The therapeutic dose was 0.1 u/kg, qd, subcutaneously before bedtime. The total course of treatment is at least 1 year, until the epiphysis is completely fused and no longer grows high. Thyroid function should be followed during treatment with GH, and thyroid powder tablets (or excellent music) should be added when T4 is decreased.
2. The application of protein anabolic steroids is generally 0.25~0.5mg/kg per week, im, every 1~2 weeks, 1 time, 10~15 times for 1 course, half a year after each treatment, start treatment The age is 12 to 14 years old. Adverse reactions shorten the growth period by promoting osteophyte fusion and have a slight masculinity. Therefore, the application is only considered in the case of unconditional use of nutropin aq nuspin.
3. If accompanied by thyroid function and adrenal insufficiency, add thyroid powder 40 ~ 60mg / d, low-dose hydrocortisone 0.5 ~ 1.0mg / kg.d.
4. Most children may be associated with sexual dysplasia. After using growth hormone, the length of the child should be increased. Boys should use chorionic gonadotropin (chorionic gonadotropin) 1000~1500u after 16-18 years old, im 1~ per week. 2 times, 4 to 6 weeks for a course of treatment, 2 to 3 months after the second course of treatment, can be used repeatedly for several courses, or with testosterone. The girl was given ethinyl estradiol (ethinyl estradiol) at a dose of 0.05 mg/d po from 15 to 16 years old until the sexual development was developed.