Problemy endokrinologii最新文献

Multiple endocrine neoplasia type 2B (MEN 2B) is a rare variant of hereditary tumor syndromes caused by germinal mutations in the proto-oncogene RET. One of the components of the syndrome is multiple neurinomas, the early detection of  which is not always given due attention. We present a description of the case of MEN 2B, manifested in the first months of life by intestinal ganglioneuromatosis. The disease presented with chronic constipation, including episodes of intestinal obstruction that required repeated surgical interventions. MEN 2B was suspected at the age of 15. At the time of diagnosis, an increase in serum calcitonin levels was noted (1041 pg/ml, norm <9.5 pg/ml), and a node in the thyroid gland was also determined (1,3*1,0*1,2 see, TIRADS 5), subsequently verified as a neoplasm of C-cells. By DNA analysis, a pathogenic variant p.Met918Thr, typical for MEN2 B, was detected in the RET gene. No signs of pheochromocytoma were found at the time of investigation. The patient underwent a thyroidectomy with lymphadenectomy. The difficulties of early diagnosis of sporadic cases of MEN 2B due to the nonspecificity of gastrointestinal manifestations of the disease are discussed.

Background: Knowledge of the physiological mechanisms of adaptation arising in response to changes in photoperiods is especially important for residents of the European North. In the literature, there is practically no information about photoperiodic dynamics of serum dopamine level, despite its significant role in the regulation of the body's activity. The mutual modulating effect of the dopaminergic and thyroid systems is known.

Aim: To show the ratio of dopamine levels and the content of hormones, protines and autoantibodies of the thyroid system, taking into account photoperiod of the year, in practically healthy populations of the European North.

Materials and methods: Healthy male population (20 men) of Arkhangelsk was examined in various photoperiods of the year (80 samples): an increase in the length of daylight hours (March), its maximum duration (June), a decrease (September), and a minimum duration (December). The inhabitants of the settlements and the nomadic aboriginal population (100 men) were examined during 2 photoperiods of the year - March and December. The serum levels of iodothyronines, TSH, TG, antibodies to TPO, antibodies to TG and plasma level of dopamine were determined using ELISA methods.

Results: Residents of Arkhangelsk in June compared to December have higher levels of dopamine (0.502 and 0.365 nmol/l, p=0.01), T3 (1.09 and 0.94 nmol/l, p=0.003), T4 (113.45 and 99.03 nmol/l, p=0.0002). In September, compared with June, a decrease in dopamine (0.235 nmol/l, p=0.0003), T3 (0.92 nmol/l, p=0.004) was recorded with an increase in T4/T3 ratio from 106.54 to 117.89 units (p=0.006). The nomadic aboriginal population in March compared with December showed a tendency to a higher content of dopamine (0.00 and 0.394 nmol/l, p=0.07) with the decrease in fT4 (15.20 and  13.90, p=0.015), fT4/fT3 ratio from 3.13 to 2.28 units (p=0.006). In December, 67% of nomadic population had undetectable dopamine values (0 nmol/l) and 22% - excess dopamine values, in March 27% - excess values.

Conclusion: Unidirectional changes in dopamine and thyroid activity in men of the European North were shown with their decrease during periods of decrease and minimum daylight hours and an increase during periods of increase and maximum daylight hours.

Multiple endocrine neoplasia type 1 syndrome (MEN1) is a rare inherited disorder that can include combinations of more than 20 endocrine and non-endocrine tumors. Unfortunately, none of the described MEN1 mutations has been associated with a peculiar clinical phenotype, even within members of the same family, thus a genotype-to-phenotype correlation does not exist. MEN1 syndrome is the most common cause of hereditary primary hyperparathyroidism (PHPT), the disease penetrance of which exceeds 50% by the age of 20 and reaches 95% by the age of 40. At the same time, PHPT with hyperplasia or adenomas of the parathyroid glands (PTG) is the most distinctive manifestation of the MEN1 syndrome. One of the main symptoms of PHPT, both in sporadic and hereditary forms of the disease, is bone damage. At the time of diagnosis in PHPT/MEN1, the bone mineral density is generally lower in comparison with the sporadic form of PHPT. This may be due to excessive secretion of parathyroid hormone during the period of peak bone mass, concomitant components of the syndrome, extended surgical treatment, and the direct effect of a mutation in the menin gene on bone remodeling. This clinical case describes a young patient with severe bone complications of PHPT and uncertain rare MEN1 mutation. PHPT was diagnosed five years later from the first onset of bone complications and repeated orthopedic operations. There was the «hungry bones» syndrome after successful surgery of PHPT, which was managed with vitamin D and calcium carbonate supplementation and there is a positive dynamic in increased bone mineral density in the main skeleton after 6 months.