[Isolated hypospadias in 5 brothers]. / Hypospadiasis elofordulása öt fivérben.

The healthy couple had five sons with hypospadias (glandular 1, coronal 4) without other child. Similar familial cluster has not reported in the sons of European parents without consanguinity. Mild form androgen insensitivity syndrome was expected in these 5 boys because of the X-linked androgen receptor gene, however, sequencing of the entire coding region (exons 1-8) and all intron-exon boundaries of the androgen receptor gene did not reveal abnormality and the CAG repeat was found in the normal range (21 repeats). This extreme familial cluster may help us to elucidate gene polymorphisms in the polygenic background of the multifactorial origin of isolated hypospadias. Therefore, the authors collaborate with a genetic institute in Pittsburg, USA to perform whole genome sequencing in these probands and their parents.

[Homozygous E387K (1159G>A) mutation of the CYP1B1 gene in a Roma boy affected with primary congenital glaucoma. Case report]. / A CYP1B1 gén E387K (1159G>A) homozigóta mutációja primer congenitalis glaucomában szenvedo roma gyermekben.

Primary congenital glaucoma was diagnosed in a son (born in 2009) of a healthy, non-consanguineous Roma couple. This couple terminated their next two pregnancies because of the 25% recurrence risk of this autosomal recessive ophthalmological abnormality. Molecular genetic analysis showed the homozygote E387K mutation of the CYP1B1 gene in the proband and the presence of this gene mutation in heterozygous form in both parents. This gene mutation is characteristic for Slovakian Roma population. There are two objectives of this case report. On one hand this finding indicates the genetic relationship of Slovakian and Hungarian Romas. On the other hand, the couple plans to have further pregnancies, and prenatal genetic test may help to assess the possible recurrence risk of this hereditary disease.

[Effect of a new dietary supplement on sperm quality]. / Új gyógyhatású készítmény hatása az ondósejtképzésre.

INTRODUCTION: There is a decline in male fertility thus new treatments are needed. AIMS: To test the efficacy of a new dietary supplement developed in the USA and registered as a drug of cure in Hungary (OGYI). METHODS: In a clinical trial 100 men with low sperm quality (spermium count 5-20 M/ml, good motility 10-40%, and adverse shape 30-50%) were examined. RESULTS: Sperm parameters were measured before and after a 3-month treatment and after another 3-month without treatment. This dietary supplement statistically and clinically significantly improved sperm count and motility. In 74 cases this dietary supplement demonstrated a beneficial effect on sperm quality (more than 10% increase in sperm count, or quality of motility, or shape); in 16 cases the improvement exceeded 30%. No adverse effect could be accounted for this treatment. CONCLUSIONS: This new dietary supplement may contribute to the treatment of male infertility.

[Influenza vaccination of pregnant women and the experiences related to the pandemic influenza A-virus H1N1 infection in Hungary, 2009]. / A várandósok influenzaoltása és a 2009. évi influenza A-vírus H1N1-pandémia tapasztalatai Magyarországon.

During the influenza A-H1N1 pandemic, only about 16% of pregnant women were vaccinated against the virus, despite their higher expected mortality risk. According to the official data, five pregnant women died. In addition, the high fever that occurs in influenza increases the risk of some congenital abnormalities. The vaccine used in Hungary is not associated with severe complications in pregnant women and their fetuses, therefore, it can be administered during any stage of pregnancy. The author discusses the causes that deterred pregnant women from being vaccinated. The main problem seems to be that some physicians were under-informed and were reluctant to take responsibility.

[Thalidomide (Contergan) induced limb deficiency in Hungary?]. / Thalidomid (Contergan) okozta végtaghiányos rendellenesség Magyarországon?

CASE REPORT: A 47 year old female with severe deficiency of three limbs visited our Genetic Counselling Clinic and asked us to give her a certificate that her complex limb deficiency was caused by thalidomide (Contergan). According to her explanation, her mother used this drug during pregnancy which was given to her by her sister, who lived in West Germany. The characteristic signs of thalidomide embryopathy are: radial type limb deficiency including most severe forms of phocomelia and amelia, ear abnormalities. In the case of this woman, however, FFU (femoral-fibula-ulna) complex was found: bilateral femur hypoplasia (F), and fibular hypoplasia (F) with the lack of Vth and IVth toes, in addition with ulnar hypoplasia (U) with the deficiency of Vth and IVth fingers in her right upper limb. The left upper limb was not affected. Besides that, she was treated with schizophrenia. In conclusion, there is no association between the supposed thalidomide use during pregnancy and FFU complex.

[Antimicrobial therapy associated with preterm birth]. / Az antimikrobiális kezelés és a koraszülés közötti összefüggés.

UNLABELLED: The effect of 51 antimicrobial drugs was evaluated for the reduction of preterm birth. STUDY DESIGN: Newborn infants without birth defects were selected from the population-based large data set of the Hungarian Case-Control Surveillance of Congenital Abnormalities, 1980-1996, for the study. Medically recorded gestational age and the proportion of preterm birth were the primary outcomes of the study and newborn infants born to mothers with or without a given antimicrobial drug were compared. RESULTS: The use of 51 antimicrobial drugs in the mothers of 38 151 newborn infants including at least ten pregnant women was evaluated. Only two: ampicillin and clotrimazole showed an obvious preterm birth preventive effect, mainly after the use during the first trimester of pregnancy. CONCLUSIONS: Our findings suggest that ampicillin and particularly clotrimazole may be effective for the reduction of preterm birth associated with infectious diseases of pregnant women.

[Fetal varicella syndrome]. / Magzati varicellabetegség.

AIM: To attract attention to the increasing number of pregnant women with varicella disease and to the importance of varicella vaccine in the prevention of fetal varicella disease. METHOD: The data sets of the Hungarian Case-Control Surveillance of Congenital Abnormalities, Genetic and Teratologic Counseling Clinic and Periconceptional ("Optimal Family Planning") Clinic were evaluated. RESULTS: There was an increasing reporting rate of pregnant women with varicella disease in the Hungarian Case-Control Surveillance of Congenital Abnormalities and particularly in the Genetic and Teratologic Counseling Clinic. In these cases the risk for fetal varicella disease is low (1%) thus consulting physicians cannot indicate elective termination of these pregnancies without definitive diagnosis of any congenital abnormalities. However, this 1% risk causes an anxiety in pregnant women, and the outcome of a fetal varicella disease could be severe, as it is demonstrated by a case reported here. CONCLUSIONS: It is necessary to clarify previous varicella disease in the history of every woman before their planned pregnancy. In case of negative or unsure history it is necessary to recommend the administration of varicella vaccine available in Hungary before conception.

[The possible effect of ampicillin treatment in preventing preterm birth]. / A terhesség alatti ampicillinkezelés lehetséges koraszülést megelôzô hatásáról.

OBJECTIVE: To study the possible association between oral ampicillin treatment during pregnancy and pregnancy complications, in addition delivery outcomes, particularly preterm birth. METHODS: The authors evaluated the so-called control newborn infants without congenital abnormalities in the population based large data set of the Hungarian Case-Control Surveillance of Congenital Abnormalities. RESULTS: Of 38,151 newborn infants, 2630 (6.9 %) had mothers with ampicillin treatment during pregnancy. Some pregnancy complications, particularly preeclampsia showed a higher prevalence in pregnant women with ampicillin treatment. Mean gestational age was slightly longer but it resulted in a significant reduction in the prevalence of preterm birth (7.1% vs 9.3 %; adjusted POR with 95 degrees % CI: 0.8, 0.7-0.9). The preterm birth preventive effect of ampicillin was most obvious after the use of the drug in the first trimester of pregnancy. Similar difference was not seen in the reduction of low birth weight. CONCLUSION: Ampicillin treatment, particularly in the first trimester of gestation can reduce the proportion of preterm birth in pregnant women with acute infectious diseases.

[A population-based case-control study of isolated congenital cataract]. / Izolált congenitalis cataracta eset-kontroll vizsgálata.

BACKGROUND: To detect the possible etiological factors in the origin of isolated congenital cataracts. METHOD: The data set of the Hungarian Case-Control Surveillance of Congenital Abnormalities, 1980-2002, contained 111 cases with isolated congenital cataract and their 111 matched control pairs without defect, 22744 patient controls with other non-ocular abnormalities and 37837 population controls without any defects. Exposure data and family history were based on (i) medical records, (ii) retrospective maternal information and (iii) information obtained by regional nurses at home visit of nonrespondent families. RESULTS: Positive family history indicated autosomal dominant origin in 9,9% of the cases. Rubella infections occurred more frequently in case mothers than in control mothers before the vaccination against rubella virus. A higher prevalence of influenza/common cold (55.9% in the case and 18.5% in the population control group, adjusted OR with 95% CI: 5.8, 4.0-8.4 and 21.7% in the malformation control group: 4.7, 3.2-6.9) and acute infectious diseases of respiratory system (26.1% in the case and 9.1% in the population control group: 3.8, 2.5-5.8 and 9.3% in the malformation control group: 3.4, 2.2-5.3) related with fever was found during the pregnancy of the case mothers. In addition the higher risk of isolated congenital cataract was prevented by antifever therapy. CONCLUSIONS: Some part of isolated congenital cataract is preventable by rubella vaccination and probably by influenza vaccination in the epidemic period, in addition it is worth using an effective antifever therapy of fever related respiratory diseases to restrict the teratogenic risk of fever.

[A population-based case-control study of broncho-vaxom use during pregnancy]. / Egy népességre alapozott eset-kontroll tanulmány a broncho-vaxom alkalmazásáról terhességben.

OBJECTIVE: To study human teratogenic potential of oral broncho-vaxom treatments during pregnancy. AIM: Pair analysis of cases with congenital abnormalities and matched population controls without congenital abnormalities. PATIENTS AND METHOD: The large population-based data set of the Hungarian Case-Control Surveillance of Congenital Abnormalities, 1980-1996. PARTICIPANTS: Of 38.151 pregnant women who had babies without any defects (control group), and 22.865 pregnant women who had newborn infants or fetuses with congenital abnormalities (case group). RESULTS: In the control group 58 (0,15%), while in the case group 22 (0,10%) pregnant women were treated with broncho-vaxom (OR with 95% CI: 0.6, 0.4-1.1). The case-control pair analysis concerning the use of broncho-vaxom during the second-third months of pregnancy did not show any human teratogenic potential in the different groups of congenital abnormalities. The mean gestational age was longer in control infants born to mother with broncho-vaxom treatment during pregnancy compared with the figure of control infants without this treatment (40 +/- 1.3 vs. 39.4 +/- 2.1, t = 2.28, p = 0.02). CONCLUSION: Teratogenic risk for congenital abnormalities was not detectable in the children born to women treated with broncho-vaxom during pregnancy. The possible gestational age promoter effect of broncho-vaxom needs further studies.

[The possible teratogenic effect of levamisole treatment during pregnancy]. / Levamisol lehetséges teratogenitásának vizsgálata terhességben.

The possible teratogenic effect of levamisole treatment during pregnancy. Levamisole (Decaris) is an anthelminthic agent. The teratogenic effect of levamisole was evaluated by the analysis of a large population-based data set of the Hungarian Case-Control Surveillance of Congenital Abnormalities, 1980-1996. The mean gestational age was somewhat longer after levamisole treatment (adjusted t = 1.04; p = 0.30) while the mean birth weight was nearly similar in the two study groups (adjusted t = 0.36; p = 0.72). This first controlled case-control epidemiological study does not indicate a higher rate of congenital abnormalities in children born to mothers who had received oral levamisole treatment during pregnancy.

[Public health control of hyperhomocysteinemia and its consequences]. / A hyperhomocysteinaemia és következményeinek népegészségügyi szintú korlátozása.

The etiological role of hyperhomocysteinemia in the origin of neural-tube defects was proved, therefore a mandatory flour folic acid fortification program was introduced in the USA since January 1, 1998. In Hungary one kind of breads was fortified with folic acid, vitamin B12 and vitamin B6. The Hungarian randomised controlled trials of periconceptional folic acid containing micronutrient-combination supplementation also indicated a reduction in the occurrence of congenital cardiovascular malformations, urinary tract's defects and congenital limb deficiencies and these findings were confirmed by US teams. Recent studies showed a positive association between cardiovascular diseases and hyperhomocysteinemia as well, thus it is considered as an independent etiological factor in the pathogenesis of ischemic heart diseases, stroke, deep vein thrombosis, in addition of vascular diseases in the placenta during pregnancy. Other studies showed that hyperhomocysteinemia is more prevalent in demented patients and in persons with impaired cognitive performance. Some association was also found between hyperhomocysteinemia and cancers (e.g. colon). There is strong evidence that four vitamins B, such as vitamin B11 (folate-folic acid), vitamin B12, B2 and B6 can reduce the level of serum homocysteine and subsequently neural-tube defects. In addition the results of intervention studies indicated a protective effect of folic acid and other vitamins B for some other congenital abnormalities, cardiovascular diseases, senile dementia and cancers. The flour fortification with these water-soluble vitamins B is appropriate for an effective public health program for the primary prevention of these hyperhomocysteinemia-related disorders. There is no real risk for side effects on the basis of available US, Canadian and Hungarian experiences. In conclusion an urgent task is to introduce a mandatory flour fortification program in Hungary.