Quilter, Claire Ruth; (2000) Cytogenetic and molecular investigations of y chromosome sequences and their role in male infertility and Turner syndrome. Doctoral thesis (Ph.D), UCL (University College London).

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Abstract

This study was divided into two main areas of research, in which male patients with infertility and female patients with Turner syndrome and premature ovarian failure were investigated at the cytogenetic and molecular level. About 20% of infertility cases are due to male factors, of which 10% of patients are diagnosed with azoospermia (no sperm present in the semen) or oligozoospermia (<20x106 sperm per ml of semen) of unknown etiology. Many of these patients consider undergoing assisted conception and it is advisable to look for the presence of a genetic abnormality which would perpetuate the problem of infertility, for appropriate counselling to take place. Turner syndrome affects females and is characterised by a series of variable phenotypic features. Previous cytogenetic studies show that about half of Turner patients are monosomic for the X chromosome and the remainder are the result of structural abnormalities of one of the sex chromosomes or have a mosaic karyotype. The presence of a Y chromosome in Turner syndrome is of diagnostic importance due to the risk of patients developing gonadoblastoma. The aim of this study was to identify regions of the Y chromosome which were absent in infertile males indicating an importance in relation to spermatogenesis. These or other Y sequences may be present in Turner patients and are relevant to their clinical management with reference to gonadoblastoma. Both groups of patients were analysed by standard cytogenetic methods, the polymerase chain reaction and fluorescence in situ hybridisation. A number of variant Y chromosomes were identified in both infertile males and Turner patients and several Turner and premature ovarian failure patients were found to have structurally abnormal X chromosomes, which were also included in this study. In addition, this work has provided a characterised pool of patients which can be used for future research.

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