[Severe bone complications of primary hyperparathyroidism in a young patient with the rare verified mutation of MEN1].

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 bones¼ 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.

[Comparative impact analysis of risk factors on the course and outcomes of pregnancy with gestational diabetes mellitus].

BACKGROUND: The increasing prevalence of gestational diabetes mellitus (GDM), the high probability of unfavorable pregnancy outcomes for the mother and the fetus, as well as a number of long-term consequences in GDM are a serious medical and social problem and require the need for its prevention by correcting risk factors, timely diagnosis and effective treatment. AIM: Analysis of risk factors for the development of gestational diabetes mellitus (GDM), the relationship between GDM, the course and outcomes of pregnancy. MATERIALS AND METHODS: Retrospective analysis of 79 case histories of patients with confirmed GDM in the period from 2015 to 2017. RESULTS: In the structure of risk factors for mother and fetus, age over 30 years (73.1%), burdened heredity for type 2 diabetes mellitus (T2DM) (30.8%), mother's pre-pregnancy body mass index (BMI) (overweight / obesity (26.9%)) had the greatest impact. Among the complications of pregnancy, the most common was the caesarean section (47.4%). The incidence of other complications (macrosomia (9%), premature birth (7.7%), congenital malformations of the fetus (5.1%), preeclampsia (5.1%) was lower than the average frequency of these complications in GDM, described in the literature. Nevertheless, it is 1.5-2 times higher than the average population indicators. In the course of statistical analysis of the data it was revealed, that the higher the mother's pre-pregnancy BMI, the lower the Apgar score for the first minute in the newborn. CONCLUSION: Women with GDM require intensive monitoring of the course of pregnancy and timely hospitalization for planned delivery, and the provision of competent obstetric benefits.