Ovotesticular Disorder of Sexual Development and Non-Palpable Testis.

Disorders of sexual development (DSD) refers to a group of diseases that links the mismatch between an individual's genetic and gonadal development and its phenotype. Ovotesticular DSD (true hermaphroditism) is one such disease, in which both male and female gonads are present. A 15-year-old boy with a history of surgery for non-palpable testis was examined due to bilateral gynecomastia and known gonosomal mosaic of Klinefelter syndrome. The external genital was matured as male and, in the left half of the scrotum, there was a testicle of normal size. Despite uncertain resistance on the right side, however, the right testis was not palpable. Revision of the right groin revealed a surprising finding in the form of an ovary with a dilated fallopian tube, both of which were completely removed. Surgical revision of the left testis with biopsy was performed. The surgery was completed with a bilateral mastectomy. The postoperative course was uncomplicated, and the boy is content and fully integrated into his peer group. True hermaphroditism is a rare type of DSD. In the case described, DSD was not exhibited until puberty, after an examination for gynecomastia. The case also confirms the necessity of clarification and long-term follow-up of patients with unclear findings during surgery for non-palpable testis. Diagnostic laparoscopy is clearly indicated in these situations.

Knowledge, attitudes and decision-making in Czech women with atypical results of prenatal screening tests for the most common chromosomal and morphological congenital defects in the fetus: selected questionnaire results.

AIMS: The primary aim was to investigate variables affecting compliance in pregnant women recommended for genetic consultation for abnormal screening test results, family predisposition or medical history. Our main focus was on a women's knowledge of particular screening tests, their initial feelings and changes in these feeling with time, as well as variables relevant to further decision making. METHODS: We used an anonymous questionnaire based on previous qualitative research. The questions were formulated by a medical geneticist, and the questionnaires were distributed prior to prenatal screening tests performed by doctors or trained nurses. The research cohort consisted of 271 women aged 16-42 years. Six hypotheses were tested using the statistical programme STATISTICA; significance levels were set to P<0.05. RESULTS: The questionnaire results showed insufficient knowledge. The women were confused about invasive, screening and ultrasound tests. Genetic test recommendation was largely associated with stress in these patients. Between recommendation and consultation, the women mostly looked for support from their partners. There was a surprisingly low percentage of women who looked for help from their medical specialists and a surprisingly high percentage of those who did not seek any help at all. CONCLUSION: Women's distress can be reduced if the information about recommended genetic consultation is conveyed correctly and this can also help them make the right informed decision about their future course of action.