Adrenal cortex and medullary hyperplasia syndrome in children
Introduction
Brief introduction of pediatric adrenal cortex and medulla hyperplasia syndrome Adrenal-adrenal and medulla hyperplasia syndrome (Medullo-Adrenalanda drenocortical hyperplasiasyndrome) is a cortisol-catecholamine hyperplasia, pheochromocytoma with Cushing's syndrome. It is caused by adenoma of the adrenal cortex and medulla, and can also be caused by the secretion of ACTH from pheochromocytoma, which causes the adrenal hyperplasia, which causes Cushing's syndrome, which is ectopic ACTH pheochromocytoma. basic knowledge Sickness ratio: 0.01%-0.02% Susceptible people: children Mode of infection: non-infectious Complications: abdominal pain, headache
Cause
Pediatric adrenal cortex and medullary hyperplasia syndrome etiology
(1) Causes of the disease
This symptom can be caused by adenoma of the adrenal cortex and medulla, or by the secretion of ACTH from pheochromocytoma, leading to adrenal hyperplasia, which causes Cushing's syndrome, ie ectopic ACTH pheochromocytoma, which is simultaneously hyperplasia of the cortex and medulla. And manifested as Cushing's syndrome and catecholamine hyperthyroidism. In 1987, He Yuhua et al reported a case of male infants. Histopathological examination confirmed cortical and medullary lesions at the same time. Detailed examination results: the adrenal gland surface was yellow granular, cut surface See the diffuse distribution of yellow-brown nodules in the adrenal cortex, the size is 0.1 ~ 0.2cm, dark red medulla can be seen in all parts of the adrenal gland, the width of 0.1 ~ 0.2cm, microscopic examination of the cortical nodules from the large eggs It consists of round or polygonal cells. The cells are rich in eosinophilic cytoplasm. The nucleus is round, deeply stained and of different sizes. There is no clear boundary between these abnormally proliferating cell clusters and the surrounding adrenal cortex. First, in the adrenal gland, the body tail can be seen, the chromaffin cells are round, oval or polygonal, rich in cytoplasm, containing basophilic fine particles, small nuclei , round, staining shallow, no nuclear karyotype and nuclear fission, cells arranged into a group, He Yuhua et al. The case of coexisting adrenal cortex and medulla hyperplasia is called "cortisol-catecholamine hypertrophy", some scholars believe that from pathology In essence, the symptoms are an independent syndrome group.
(two) pathogenesis
The mechanism of coexistence of adrenal cortex and medulla hyperplasia is still unclear. There are three theories:
1. Synthesis and secretion of adrenal cortex and medullary hormone ACTH can enhance the activity of tyrosine hydroxylase, dopamine -hydroxylase, phenylethanolamine-nitrogen-methyltransferase, which are necessary for the synthesis of catecholamine. In animals with repeated stress, when the ACTH and cortisol increased, the activity of the above enzymes increased, and the synthesis and release of catecholamines increased accordingly. Injection of ACTH may cause a crisis of pheochromocytoma, showing adrenal cortex and medullary hormone. The synthesis and secretion are regulated by ACTH, but in a large number of Cushing's syndrome cases, medulla hyperplasia is rare, and it seems that this idea is not supported, so the exact relationship between the two remains to be further explored.
2. Excessive medulla secretion ACTH Immunohistochemistry confirmed that there are ACTH-like immunoreactive cells in the fetal adrenal medulla at 23 weeks of gestation. These cells can survive after birth and may develop pheochromocytoma. As for the proliferative adrenal medulla The presence or absence of such residual cells releases ACTH to cause cortical hyperplasia, which deserves further study. He Yuhua et al reported no evidence of pituitary lesions; catecholamine secretion increased earlier than cortisol in the history; no long-term replacement therapy after adrenal subtotal resection And pituitary radiotherapy and recovery, and no Nelson syndrome, which supports the possibility of hyperplasia of the medulla to secrete excess ACTH and cause hypercortisolism.
3. Pathological changes Adrenal cortex and medulla hyperplasia are the coupling of two pathological states, or may be an independent type of disease.
Prevention
Prevention of pediatric adrenal cortex and medulla hyperplasia syndrome
The etiology of this disease is unknown, and may be related to pathological factors in the uterus or damage to the function of the hypothalamic-pituitary axis. Some people think that this disease is X-linked inheritance. Therefore, reference should be made to genetic disease prevention measures.
Precautionary measures refer to birth defects, and prevention should be carried out 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 general physical examination (such as blood pressure, electrocardiogram) and family history of the disease, personal medical history, serological examination (such as hepatitis B virus, Treponema pallidum, HIV), reproductive system tests (such as screening for cervical inflammation).
Systemic birth defect screening is required during antenatal care during pregnancy, including regular ultrasound, serological screening, and, if necessary, chromosomal examination.
Pregnant women should avoid harmful factors as much as possible, including away from smoke, alcohol, drugs, radiation, pesticides, noise, volatile harmful gases, toxic and harmful heavy metals.
The cause has not yet been fully elucidated, and genetic counseling should be done to do all the health care work during pregnancy. 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, and how the prognosis is. Take practical and feasible treatment measures.
Complication
Pediatric adrenal cortex and medullary hyperplasia syndrome complications Complications, abdominal pain, headache
Have episodes of abdominal pain, headache, heart palpitations, tachycardia, etc.
Symptom
Symptoms of Adrenal Cortex and Medulla Hyperplasia in Children Symptoms Common symptoms Full Moon Face Cushing Syndrome Hypertension Abdominal Pain Heart-to-heart Obesity Medulla Hyperplasia Multi-blood tachycardia
This symptom has typical Cushing's syndrome and there are syndromes of typical pheochromocytoma episodes. There are hypertension, centripetal obesity, full moon face, and more blood. The 4 year old child has sparse pubic hair and urine 17-OHCS. 17-KS is significantly elevated and can be inhibited by high-dose dexamethasone.
In addition, there may be paroxysmal abdominal pain, headache, palpitations, hyperhidrosis and episodes of hypertension, tachycardia, sweating, etc., urine VMA qualitative test is positive.
Examine
Examination of pediatric adrenal cortex and medullary hyperplasia syndrome
Urinary 17-OHCS, 17-KS was significantly elevated. The domestic report of 4-year-old children was taken as an example. The 24-h urine 17-OHCS reached 37.6 mg (normal age 1.9-5.5 mg) and 17-KS was 10.6 mg (normal at the same age). The value was 2.4-5.5 mg), and the urine VMA qualitative test was positive (with a positive base value of >10 g/ml).
There was no abnormality in the radiograph of the sella and the retroperitoneal X-ray.
Diagnosis
Diagnosis and differentiation of pediatric adrenal cortex and medullary hyperplasia syndrome
According to the clinical features of Cushing's syndrome with the presence of typical pheochromocytoma, combined with endocrine and X-ray examination to make a diagnosis.
Different from Cushing's syndrome and pheochromocytoma, the first two manifestations of this disease are helpful for identification.
