[Surgical correction of genital virilization in girls with congenital adrenal hyperplasia]. / Chirurgická úprava virilizovaného genitálu u dievcat s kongenitálnou adrenálnou hyperpláziou.

Based on an analysis of 10 patients after a feminizing operation of a virilized genital in female pseudohermaphroditism caused by congenital adrenal hyperplasia on account of 21-hydroxylase deficiency the authors emphasize in conjunction with multidisciplinary collaboration the necessity of early modification and surgical repair with adjustment of the external genital before the age of two years. An excellent anatomical and cosmetic result of reconstruction with clitoroplasty emphasizes the importance of preserving the clitoris and erectile tissue to ensure adequate social, psychic and sexual development of the patient.

PKU in Slovakia: mutation screening and haplotype analysis.

The restriction fragment length polymorphism haplotypes and seven common mutations in the phenylalanine hydroxylase gene were analysed in 49 unrelated Slovak phenylketonuria (PKU) families of Caucasian origin. The predominant mutation in this population sample is R408W, with a frequency of 45.9%. In addition, four other mutations have been identified at relatively high frequencies: IVS12nt1, 10.2%; R158Q, 7.1%; R261Q, 7.1%; R252W, 2.0%. The mutation-haplotype associations correspond to those described in other European populations. The high proportion of mutations (72.4%) amenable to simple rapid detection based on the polymerase chain reaction provides a good basis for direct DNA-diagnosis of PKU in the Slovak population.

[DNA analysis in classic phenylketonuria--screening for mutations and haplotype analysis in Slovak families]. / DNA-analýza pri klasickej fenylketonúrii--skríning mutácií a haplotypová analýza v slovenských rodinách.

Authors in this contribution present the results of screening for mutations in PAH gene responsible for classical phenylketonuria (PKU), and that of haplotype analysis, based on DNA analysis in 49 Caucasian families with at least one affected child from Slovak Republic. The clearly predominant PKU mutation in this population was the R408W with proportion of 45.9% among all PKU mutations. In addition four other mutations have been identified: IVS12nt1-10.2%, R158Q-7.1%, R261Q-7.1%, and R252W-2.0%. the overall proportion of identified PKU mutations equals 72.4%. Considering the fact, that these mutations are amenable to rapid and rather simple detection using PCR, the DNA analysis is recommended as a method of direct diagnosis in clinical practice as well as in prevention.

[Immunologic parameters in insulin-dependent diabetes mellitus in children]. / Niektoré imunologické parametre inzulínodependentného diabetes mellitus u detí.

Evaluation of some immunological indicators in a group of 31 patients. In 80.6% patients IgG and IgM values were elevated, in 77% the total lymphocytes were reduced. Significantly reduced C3 levels were recorded in 46.6% and reduced C4 levels in 83.3%, in particular during the period of decompensation. Serum antibodies against islet cells of the pancreas were found in particular during the first two years of the disease.