Testicular volume variations from 0 to 28 years of age.

To determine the standard testicular volume growth, 1985 males aged 0 to 28 years were subjected to measurement by means of Hynie's testometer and the results were related to the body size (testicular volume cm3/Livi index). Data for comparison were obtained from a gypsy and a non-gypsy sample. While at the ages of 0 to 9 years the volume did not show any notable variation, there was a conspicuous and rapid (approx. 10-fold) increase between 10 and 15 years. The maximum size was attained among the non-gypsies at 17-18, among the gypsies at 21-22 years. The average volume for every age group above 19-20 years was higher in the gypsy than in the non-gypsy sample. In each group, from the start of puberty the right testis was bigger on the average than the left.

[Failures in genetic counseling]. / Kudarcok a genetikai tanácsadás során.

PIP: Genetic counseling effectively promotes high-quality family planning. However, once in a while failures occur. The authors discuss 10 cases which demonstrate the causes of such failures: a faulty decision by the geneticist, counselor, or family planning specialist; failure to consider all aspects of the patient's case; inadequate clinical-nosological diagnosis; and assumption of too great a (random) risk.^ieng

[Fetal damage caused by contraceptive tablets]. / A fogamzásgátló tabletták magzati ártalmassága.

PIP: When taken during pregnancy, the earlier types of contraceptive pills had a direct teratogenic effect on the female fetus, causing the masculinization syndrome. Presently available pills, which are of different composition and given in smaller doses, do not have a direct teratogenic effect when taken during pregnancy (although this is not desirable anyway). But when taken at the time of conception, they can be accompanied by a more frequent occurrence of certain broad-spectrum disorders. This occurs in women who have a tendency to it because of hormonal dysfunction; the actual cause is disorder in the restoration of hormone regulation after discontinuing the tablet. Among the residual symptoms are cyclical fertility after discontinuation of the tablets, postpill amenorrhea, and, aside from the more frequent occurrence of twins, congenital malformations which can be attributed to disorders of implantation but which occur only seldom.^ieng

[Chemical castration in homosexual pedophilia]. / Kémiai kasztráció homoszexuális pedofíliában.

The treatment of reducing sexual drive with antiandrogenic cyproterone acetate in a man with homosexual paedophilia is shown with the summary of rules for the use of cyproterone acetate in the therapy of sexual deviations.

[The practice of genetic counseling]. / A genetikai tanácsadás gyakorlata.

The most important practical application of medical genetics is the genetic counselling. It is based on the specific burden of potential offspring which involves severity and treatibility of expected disorder, possibility of prenatal diagnosis, risk, etc. The separation of specific and random burdens is also very important. In Hungary a new counselling method entitled "information guidance counselling" was introduced which means an intermediate position between directive and nondirective counselling because of the expectation of family planners.

[An unusual case of intercalary type of limb abnormalities]. / A végtaghiányos rendellenesség-csoporton belüli intercalaris típus szokatlan esete.

Authors report about a case of total lack of middle phalanxes on the 3d and 4th fingers and a hypoplasia of the surrounding phalanges on the left hand. This is the first report on this type of intercalary type in congenital limb deficiency group. They call attention to one of the so far not sufficiently emphasized hazard of previous periconceptional oral contraceptive use. If there is not enough time left for the total regeneration after the discontinuation of contraceptives, such kind of malformation may develop in the fetus due to the insufficiency of fetal-placental circulation.

[Prevention of the first occurrence of anencephaly and spina bifida with periconceptional multivitamin supplementation (conclusion)]. / Az anencephalia--spina bifida elsö elöfordulásának megelözése multivitamin periconceptionális adásával (záró értékelés).

The risk of recurrent neural-tube defect was decreased in women who took folic acid or multivitamin containing folic acid during the periconceptional period. The extent to which such supplementation can reduce the first occurrence of defects is not known. A randomized, controlled trial of periconcepctional multivitamin supplementation to test the efficacy of this treatment in reducing the incidence of a first occurrence of neural-tube defects was conducted. Women planning a pregnancy (in most cases their first) were randomly assigned to receive a single tablet of a multivitamin supplement (containing 12 vitamins, including 0.8 mg of folic acid; 4 minerals; and 3 trace elements) or a trace-element supplement (containing copper, manganese, zinc, and a very low dose of vitamin C) daily for at least one month before conception and until the date of the second missed menstrual period or later. Pregnancy was confirmed in 5502 women. The outcomes of the informative offspring (whether the fetus or infant had a neural-tube defect or other congenital abnormality) was known in 2471 women who received the multivitamin supplement and in 2391 who received the trace-element supplement. There were six offspring of neural-tube defects in the group receiving the trace-element supplement, as compared with none in the multivitamin-supplement group (p = 0.0014). Congenital abnormalities were significantly more prevalent in the group receiving the trace-element supplement than in the multivitamin-supplement group (2.22 per 1009 vs 1.25 per 1009, p = 0.002).

[Cumulative familial olivopontocerebellar atrophy type IV]. / Olivopontocerebellaris atrophia IV. típusának családi halmozódása.

Three affected members of a family with olivopontocerebellar atrophy IV (Schut-Haymaker type) of autosomal dominant inheritance are presented. The five types of olivopontocerebellar atrophy are differentiated on the basis of clinical symptoms and the mode of inheritance. Its clinical symptoms are varied but the cerebellar ataxia of different extent is present in every case which may be followed by pyramidal and extrapyramidal symptoms. Clear differentiation from the other types is based on the destruction of the nuclei of cranial cerebral nerves (IX, X, XII).

[Multiple synostosis]. / Multiplex synostosis.

A sporadic and a familial case with multiple synostosis (symphalangism syndrome) are described with the demonstration of other symptoms (e.g. fusion of middle ear ossicles with conductive deafness). The differential-diagnosis of about 15 syndromes including symphalangism is discussed.

[The role of hyper-homocysteinemia in the etiology of some vascular diseases]. / Hyperhomocysteinaemia szerepe az egyes érrendszeri betegségek kóreredetében.

About 5% of population have a highly, while other 15% a moderately elevated plasma homocysteine level. Hyperhomocysteinemia may be responsible about 10-20% of coronary artery, 40% of cerebrovascular and 60% of peripheral vascular diseases. There in an inverse relationship between folate, cobalamin and pyridoxine intake or blood level and plasma homocysteine level. In addition, the intake of these three B vitamins can reduce high plasma homocysteine level. Folate-folic acid seems to be the most important in homocysteine reduction due to the compensation of thermolabile methylenetetrahydrofolate reductase insufficiency, however, a milder impact of cobalamin any pyridoxine (mainly following a methionine load test) is also proved. There are possibilities to reduce risk associated with elevated homocysteine: e. g. dietary supplementation or food fortification. In Hungary bread enriched by folic acid, cobalamin and pyriodixine might reduce rate of vascular diseases due to hyperhomocysteinemia.

[Six cases of basal cell nevus carcinoma in three families]. / Basalsejtes naevus carcinoma betegség hat esete három családban.

Six cases of three families had basal cell nevus cacinoma syndrome of autosomal dominant inheritance. Five characteristics of this genetic disease are stressed: (1) 40% of cases had sporadic occurrence due to de novo mutations; (2) there are three phases in the manifestation of the disease: congenital abnormalities diagnosed after birth; nevoid phase during childhood with increase at adolescence; oncogen phase after the second decade; (3) symptoms have a variability and age-dependency, (4) this mutant gene can cause both congenital abnormalities and tumours; (5) these patients are very sensitive for environmental mutagens thus it is necessary to limit or to exclude UV and X-rays, cytostatic and immunosuppressive drug treatments.

[Evaluation of the teratogenic effects of occupational hazards during pregnancy]. / A terhesség alatti munkahelyi hatások teratogenitásának értékelése.

The Hungarian Case-Control Surveillance System of Congenital Anomalies, 1980-1987 contains 10,937 index patients affected by congenital anomalies and 10,937 matched control cases. Their comparative analysis indicated a significantly higher rate of some congenital anomaly types in the offspring of women worked in agriculture and "other" categories. However, a more detailed analysis of data set (according to different working places) is needed for the improvement of health protection.

[Genetic study of diaphragmatic defects]. / A diaphragma rendellenességek genetikai vizsgálata.

The occurrence of specific and nonspecific congenital anomalies was determined in first degree relatives of index patients with congenital diaphragmatic defects who were born in Hungary between 1970 and 1979 and were ascertained through a population-based registry. The cases were grouped into Bochdalek types (N = 156), other types (N = 26), unclassified types (N = 55), and multiple congenital anomalies (MCA) cases including those with congenital diaphragmatic defects (N = 96). The sib occurrence in the Bochdalek type was 0.9% (taking into consideration also the unclassified cases or the total material, it was 0.5% or 0.4%, respectively). Specific familial clusters were not found in other types. Neural tube defects were detected in 1.8% of sibs in the total material and 2.4% in MCA cases.

[Public health aspects of the Martin-Bell syndrome]. / A Martin-Bell-szindróma közegészségügyi jelentösége.

A carrier mother has eleven children. Of 5 boys, four are affected by Martin-Bell syndrome. Of 6 girls, four were found carrier. Authors summarise the medical genetic characteristics of this syndrome which is the second most common genetic cause of mental retardation.

[Sex preselection in Hungary]. / Hazai igények az utód nemének tudatos irányítására

PIP: A survey was conducted in Hungary on the subject of sex predetermination among the teaching profession. 1500 subjects with no children were asked to answer a questionnaire. Almost 70% of the subjects questioned desired boys. The majority of people wanted 2 children. Among the people who wanted only 1 child, 65% preferred having a boy. Among the people who wanted 2 children, 56.5% wanted boys. Finally among the people who wanted 3 children, 60.5% wanted boys. In this group, boys were usually preferred particularly by the women rather than the men.^ieng

[A new heart defect-brachydactyly syndrome]. / Uj "szívrendellenesség-brachydactylia"-szindróma.

A new heart malformation-brachydactyly syndrome of autosomal dominant origin is described in 9 members of three generations in a Hungarian family.

[Principles of counseling and care of HIV-1 seropositive pregnant women in the light of a Hungarian case]. / A HIV-1 szeropozitív terhesek tanácsadásának és ellátásának elvei egy magyar eset tükrében.

HIV-1 infected pregnant woman with minor HIV-related symptoms insisted on her pregnancy. Having been on zidovudine prophylaxis (ACTG 076) she delivered a healthy girl and DNA PCR test indicated the lack of her infection. Principles of counselling, care and obstetric management of HIV infected pregnant women are also summarised.

[Prevalence of severe visual impairement in school-age children in Hungary]. / Az iskoláskorú súlyos látási fogyatékos gyermekek gyakorisága Magyarországon.

The recorded prevalence of 6 to 14 year-old children with severe visual handicap was 0.43 per 1000 in Hungary, 1983/84. The territorial distribution showed significant difference in prevalences, the highest figures were found in two entities with three special institutions for severely visually handicapped children. Thus, the recorded figures are underascertained and the estimated rates are 0.52-0.60 and 0.21 per 1000 for children with severe visual handicap and, within it, blindness, respectively.

[Holt-Oram syndrome]. / Holt-Oram-syndroma.

Authors report on the genetic epidemiologic investigation of the upper limb--cardiovascular (Holt-Oram) syndrome. The source of cases was the material of the Hungarian Congenital Malformation Registry. Birth prevalence was 0.95/100,000 total births. 85% of all cases proved to be consequences of new mutations, hence the mutation rate was 4.07 x 10(-6) +/- 3.12 x 10(-6).

[Split hand/foot abnormalities: classification, pathogenesis, epidemiology]. / Hasadt kéz/láb rendellenesség: osztályozás, kóreredet, epidemiológia.

Authors report on the genetic epidemiologic investigation of one of the sentinel anomalies made on purpose to define the birth prevalence of the different types of it, to calculate the mutation rate of autosomal dominant forms as well as to recognize the clinical features of Hungarian cases. 58% of all cases registered in the Hungarian Congenital Abnormality Registry in 1975-1984 proved to be atypical. The birth prevalence of autosomal dominant forms was 1.33/100.000 total birth. 71% of dominant forms was sporadic since 29% was familial. Thus the mutation rate was estimated 4.7 x 10(-6) +/- 1.22 x 10(-6).