ABSTRACT
Thyroid diseases may adversely affect the conception, maintain pregnancy. They increase the risk of complications in pregnancy and may have a negative effect on the fetus. Therefore it is necessary to capture thyroid diseases in the population of pregnant women, in the early stage of pregnancy. In Slovakia, since 2009, the Expert Guideline of the Ministry of Health of the Slovak Republic for the diagnosis and treatment of autoimmune thyroid diseases in women during pregnancy has been in force. In our patient cohort, we monitored 666 pregnant patients, the timeliness of screening, thyroid parameters, the number of pregnancies and their complications, the need for levothyroxine treatment. We found that screening was shifted to an earlier period of pregnancy (11.4 gestational week 2015/2016 vs 8.2 gestational week 2016/2017), the most sent patients were in the first trimester of pregnancy (72 %), 81 % of patients had positive thyreoperoxidase antibodies, 10 % had overt hypothyroidism, 90 % had subclinical hypothyroidism, pathology in the pregnancy had 13 % patients. The treatment was needed in 70 % of patients. Obviously, the number of screened patients in the 1st trimester has increased (83 % 2016/2017) from the time since the introduction of screening. We can also see the high number of patients with positive autoantibodies. These are patients who need to be monitored and also treated if TSH increase more than upper limit for an actual trimester to minimize the risk of pregnancy complications.Key words: hypothyroidism - pregnancy - screening - thyroxin.
Subject(s)
Guideline Adherence , Practice Guidelines as Topic , Pregnancy Complications/diagnosis , Thyroid Diseases/diagnosis , Female , Humans , Mass Screening , Pregnancy , Pregnancy Complications/epidemiology , Pregnancy Trimester, First , Slovakia/epidemiology , Thyroid Diseases/epidemiologyABSTRACT
Von Hippel-Lindau syndrome (VHL) is a rare genetic disease. Its incidence is 1 : 36,000, there is the familial occurrence in 80 % of cases , the remaining cases are de novo mutations. The disease is caused by the highly penetrant mutations in the VHL gene (3p25.3) and is characterized by the occurrence of benign and malignant neoplasms. The most common VHL tumors are the tumors of the retina, brain and spinal hemangioblastomas, renal cell carcinoma, pheochromocytoma, endolymfatic sac tumors and pancreatic tumors and cysts. The mean age of the VHL patients during the diagnosis is 20-40 years. The diagnosis can be confirmed by a positive family history and the presence of one of the typical tumor. In case of no family history, the diagnosis has to be assessed by the presence of the multiple tumors. The clinical signs and prognosis of VHL depend on the location and extent of the tumors. The life expectancy is 50 years. The most common causes of death are complications of the renal cancer and the brain tumors. The treatment requires a multidisciplinary collaboration through the whole life of patients. This 2 cases report we demonstrate the differences among the patients with de novo mutations disease and the patient with familial incidence.Key words: pheochromocytoma - renal cell carcinoma - von Hippel-Lindau syndrome.
