A Case of Spontaneous Pregnancy in Patient with Premature Ovarian Failure Who Has a Y Chromosome / 대한산부인과학회잡지

Premature ovarian failure is a condition causing amenorrhea, hypoestrogenism, and elevated gonadotropins in women younger than 40 years. A karyotype should be performed as part of basic laboratory evaluation for all patients with premature ovarian failure and prodromal premature ovarian failure. Gonadal dysgenesis represents a wide spectrum of clinical phenotypes, gonadal structures that include the presence of at least one streak gonad, and a variety of X chromosome abnormalities and mosaicism. Development of a malignancy in a dysgenetic gonad is of major concern. The presence of a fragment of the Y chromosome is thought to be a key to the oncogenic potential of these gonads. Malignant potential is clearly not linked to the testicular determining factor itself (SRY). Failure to display SRY or a closely related sequence does not rule out the presence of the segment of the Y chromosome postulated to be associated with the development of malignancies. Pregnancy in premature ovarian failure with chromosomal abnormality is rare. Furthermore, the incidence of pregnancy in patient with Y chromosome is very rare. We have experienced a case of premature ovarian failure with chromosomal abnormality involving Y chromosome fragment. She has got pregnant spontaneously and gave birth to male baby but he was found to have the same karyotype as his mother. So we report this case with a brief review of literatures.

A Case of Azoospermia Associated with Inversion of Chromosome 1 / 대한산부인과학회잡지

Chromosomally derived sterility has long been recognized. A review of the literature of somatic chromosome investigations in infertile males has shown that 13.7% of azoospermic males and 4.6% of oligozoospermic males have an abnormal karyotype. In the first group, sex chromosome abnormalities predominate (mainly 47,XXY), whereas in the latter, autosome anomalies (i.e. Robertsonian and reciprocal translocations) are the most frequent. A similar review on meiotic studies revealed that meiotic chromosome anomalies can explain male infertility in 4.3-40.4% of patients. Recently, fluorescent in-situ hybridization studies on spermatozoa from infertile men were published; it was suggested that both X-Y pairing and pairing of the autosomes were impaired, resulting in spermatogenic disruption. It is estimated that there are 2,000 genes that regulate spermatogenesis, most of these being present on the autosomes, but there are approximately 30 genes on the Y chromosome. In general, autosomal genes that regulate spermatogenesis are concerned with regulation of metabolic processes in other cells in the body as well as in the cells of spermatogenesis, whereas Y genes are not essential for vital functions related to reproduction. To be able to provide proper counseling for those couples whose male infertility can now be treated by intracytoplasmic sperm injection, it is suggested that clinical investigations should include mitotic and meiotic studies, an analysis of the chromosome content of individual spermatozoa and a DNA analysis of blood and spermatozoa to detect partially deleted Y chromosome material. We have experienced a case of azoospermia associated with inversion of chromosome 1. So we report this case with a brief review of literatures.