ABSTRACT

This chapter provides some karyotypic abnormalities have little impact on gynaecological problems, but those affecting the sex chromosomes. There are a number of karyotypic abnormalities that may present to the gynaecologist with an initial complaint of primary amenorrhoea. Others will have been diagnosed in childhood but are referred on for further management by paediatricians and endocrinologists. The phenotypic abnormalities result in most cases being diagnosed in infancy and childhood. The girls are then usually referred to a gynaecologist after optimal growth potential has been achieved using growth hormone, for advice about long-term hormone replacement therapy (HRT). HRT is required in all patients with ovarian failure. The gynaecologist may be the only point of regular medical contact and needs to be aware of these issues, particularly when pregnancy is desired. Karyotypic abnormalities are a common cause of primary amenorrhoea. Cryopreservation of ovarian tissue may be an option for future fertility, particularly for girls with mosaicism.