Pediatric acromegaly and pituitary gigantism
Introduction
Introduction to Pediatric Acromegaly and Pituitary Giant Syndrome Acromegaly and pituitary giant disease, also known as pituitary gigantism, hypertrophic growth hormone, is caused by excessive secretion of growth hormone in childhood, resulting in excessive growth and metabolic changes of bones, soft tissues, viscera Physical dysplasia. The outstanding performance is in the rapid growth of bones, especially the growth of long bones, and the height is far beyond the normal range. According to Western standards, if the height increases by more than 18cm in the first 6 months after birth or if the height increases by more than 10cm after 6-12 months of birth, it will grow too fast. Or if excessive secretion of growth hormone (hGH) begins before puberty, osteophytes are not fused to giant disease; if excessive secretion of hGH begins after puberty, the epiphysis is closed, then acromegaly, only acromegaly Found in adults. If the disease begins before puberty and continues to develop after puberty, it becomes a huge deformity with acromegaly. basic knowledge The proportion of illness: 0.0035% Susceptible people: children Mode of infection: non-infectious Complications: arrhythmia, irregular menstruation, headache, small penis
Cause
Pediatric acromegaly and the cause of pituitary giant disease
hGH is continuously secreted too much (30%):
The most common cause is caused by eosinophilic adenoma in the anterior pituitary gland, and excessive secretion of hGH is an important cause, and excessive secretion of hGH is common in the secretion of growth hormone releasing hormone (GH-RH) in the hypothalamus or inhibition of growth hormone release. Hormone (GHIH) secretion is reduced.
Primary pituitary disease (35%):
However, most of them are primary pituitary diseases, pituitary tumors are the main cause. In pituitary tumors, hGH cells secrete tumors in the third place (about 22% of pituitary tumors), mostly benign, anterior pituitary eosinophils The tumor can secrete a large amount of GH, hypothalamic diseases such as ganglionoma, hamartoma, vagus tumor, and can stimulate the pituitary to increase the secretion of hGH due to excessive secretion of GHRH. In recent years, related to the secretion of heterologous GHRH and heterologous hGH Reported more and more, the secretion of these heterologous GHRH and GH comes from carcinoid, lung cancer or islet cell tumor.
Growth hormone releasing hormone in the hypothalamus (20%):
The cause of pituitary tumor formation is related to the growth hormone releasing hormone of the hypothalamus and the growth hormone releasing hormone. The growth hormone has the function of assimilation protein, which can promote the development of various parts of the body, such as skin, subcutaneous tissue, extremities, and internal organs. Both have increased, clinical acromegaly and other symptoms, Daughaday reported in 1972, GH has to play a role, must be through the growth of (somatomedin, SM), or SM (somatomedin family) and SM have three categories, of which The molecular structure of IGF-I and IGF-II, SM-C has been clarified. IGF-I is the same as SM-C. Now IGF-I or SM-C is used to express various metabolic and organism changes caused by acromegaly. The result of direct action by GH, but secondary by SM, especially IGF-I/SM-C.
Prevention
Pediatric acromegaly and prevention of pituitary giant disease
Acromegaly and giant disease are caused by the chronic high secretion state of growth hormone, causing hypertrophy and endocrine-metabolic disorder of soft tissue, bone and viscera, and the disease has obvious genetic tendency, and genetic disease prevention should be done. In addition, the prevention and treatment of this disease has an important relationship with the prognosis, so you should always pay attention.
Complication
Pediatric acromegaly and complications of pituitary giant disease Complications, arrhythmia, irregular menstruation, headache, small penis
Large tongue and soft tissue thickening of the throat can cause unclear language and nighttime sleep apnea. Excessive growth hormone secretion can cause cardiac hypertrophy, severe arrhythmia, heart failure, and insufficient lung function in the respiratory system. Difficulty breathing, pituitary tumors can cause headaches, can cause visual field defects or reduced vision, adolescent girls can have breast dysplasia, irregular menstruation or no menstruation, boys with small testicles, small penis, due to skin sweating, more oil, easy There are infections in the armpits or groin, and about 20% of patients have diabetes or impaired glucose tolerance due to persistent growth hormone.
Symptom
Pediatric acromegaly and pituitary giant symptoms Symptoms Weight gain Growth hormone secretion over polysaccharides urine limbs hypertrophy Cardiac hypertrophy sleep apnea hemianopia vision defect arrhythmia heart failure
The onset is slow, with abnormal height growth and weight gain. Clinical manifestations are due to increased secretion of hGH and the effect of the tumor itself on surrounding tissues. When the disease begins, it is found that the growth rate of the child is accelerated, especially with long bones and hand and foot growth. The growth rate of height is far beyond the height limit of normal people, and the height is often >2m. After 2 years of age, the annual growth rate of height is >12cm/year. After the epiphysis is closed, the bones gradually become thicker and have a special face. For example, the eyebrows are prominent, the frontal bones are hypertrophied, the humerus is enlarged, the mandible is wide forward, and the occlusion is present. Anti-jaw, facial skin, soft tissue thickening changes, large ears, large nose, thick lips, sparse teeth, appearance becomes ugly, thick tongue and soft tissue thickening of the throat can make the language unclear and nighttime sleep apnea, growth hormone secretion Excessive too much can cause heart hypertrophy, severe arrhythmia, heart failure, lack of lung function in the respiratory system, patients are tired during the day, mentally wilting, and even breathing difficulties, the pituitary tumor volume gradually increases, oppression can occur Symptoms, headache, decreased vision or hemianopia, compression and destruction of other tissues and symptoms of anterior pituitary dysfunction, oppression of the tumor when the tumor expands upward, optic chiasm leads to corresponding visual field defects; tumor compression, can destroy the dura mater, butterfly There is a corresponding brain or cranial nerve damage at the bottom of the saddle. About 20% of patients have sugar due to persistent growth hormone. Disease or impaired glucose tolerance, individual patients will be delayed puberty.
Adolescent girls have poor breast development, irregular menstruation or no menstruation, and large hands and feet.
Skin manifestations can be seen thickening of the skin, edema, especially the eyelids, the lower lip is obvious, due to excessive skin growth, facial and neck skin wrinkles occur, the scalp is called the back skin, the skin is pigmented, possibly with melanocytes Increased stimulating hormone, skin sweating, more oil, easy to have hemorrhoids, compression sites such as underarms or groin are very susceptible to infection, 40% to 50% of patients with hairy, late hair thinning, mane, pubic hair reduction, testicles, penis Very small.
Examine
Examination of pediatric acromegaly and pituitary giant disease
Growth hormone determination, blood GH basic value is normal at 50 ng / L, the disease GH value increased, > 100 ng / L.
Blood glucose and GH were measured at 60-90 min after oral glucose 1.75 g/kg, and GH secretion was inhibited in normal humans when blood glucose was >1000 mg/L, while GH in pituitary giant disease was not inhibited.
After levodopa stimulation test, the blood GH secretion decreased, and the blood GH value increased after stimulation in normal people. In addition, TRH and GHRH stimulation tests were used in pituitary giant acromegaly and acromegaly, and most patients were found to have increased GH secretion. Helps diagnose the disease.
X-ray examination of the skull and extremities: the thickness of the skull is enlarged, the forehead sinus and the sella are enlarged, the bottom of the saddle is visible, and the X-ray of the extremities is shown to increase the bone of the toe.
Diagnosis
Diagnosis and diagnosis of pediatric acromegaly and pituitary giant disease
Giant pituitary deformities need to be identified with the following diseases:
1. Precocious puberty Early height growth is too fast, bone age is advanced, often accompanied by early appearance of secondary sexual characteristics, blood hGH normal can be identified.
2. Familial tall stature Most patients have a family history, and the family members or their immediate family members are tall and tall. These children have no other symptoms except for the high physique.
3. Osteoarthrosis hypertrophy (osteoarthropathy hypertrophy), also known as idiopathic osteoarthritis, mainly seen in men, caused by autosomal recessive or incomplete dominant mutations, patients grow rapidly during puberty, rapidly increasing in the hands and feet At the same time, the skin of the head, face and hands and feet is thickened, the skin folds more, the depth is deeper, the finger (toe) end is enlarged and the drum is shaped, and the X-ray long bone piece can show the new bone deposition of the periosteum, usually the normal saddle is normal, and the blood growth hormone level is not Raise.
4. Cerebral giant disease is mainly differentiated from brain giant disease. The clinical symptoms are similar to pituitary giant disease and acromegaly. The disease is taller and heavier after birth, and the growth is too fast in infants and young children. With serum GH levels are too high.
5. Marfans syndrome is an autosomal dominant connective tissue disease. Due to its thin body, the long toe of the hand and foot is also called the spider's toe. In addition to the high body length, the sorghum arch is excessively stretched. Lateral deformity of the spine, ocular crystals are prolapsed, some patients are accompanied by congenital malformations of the cardiovascular system. The skin of the disease is often normal, and the swelling pattern is visible. In the upper part of the dermis, parallel arranged collagen bundles and elastic fibers can be seen. Subcutaneous fat Rarely, the laboratory may have increased urinary hydroxyproline excretion, which is conducive to the diagnosis of this disease.
6. Simple prognathism These patients are often misdiagnosed as early acromegaly, but the blood levels of such patients are normal.
7. Congenital testicular hypoplasia Klinefelters syndrome is a chromosomal malformation disease, the karyotype is often 47,XXY or 46,XX/47,XXY chimeric, so the testicular germ cell dysplasia, the disease The body is tall and thin, lacking male secondary sexual characteristics, small testicles, no sperm production, often with infertility, another type of chromosomal malformation is 48, XXYY and 47, XYY syndrome, growth occurs before puberty And the prominent symptoms of the mandible need to be differentiated from the giant malformation of the pituitary gland, which can be distinguished by chromosome examination.
8. Exophthalmos, giant tongue, giant syndrome, also known as Beckwith-Wiedemann syndrome (BWS), is a hereditary disease characterized by neonatal malformations, giant tongue, visceral hypertrophy and hypoglycemia. Beckwith et al described that in addition to the birth of a huge deformity, the child has a giant tongue, umbilical hernia, small head, 15% of the performance of half-length hypertrophy, often with low intelligence.
