Essay On Gonadal Dysgenesis

Introduction

The human genome consists of 23 pairs of chromosomes. 22 of those pairs are homologous and autosomal. The 23rd pair is the sex determining pair of chromosomes. In females, the chromosomes are homologous, namely the karyotype XX. Males, however, have heterologous sex chromosomes, namely the karyotype XY. The differences in primary sex characteristics, i.e. developing testes or ovaries, are not entirely determined by the Y chromosome. Instead, there is a cascade of different and specific genes and proteins that activate to initiate male sexual differentiation. Should the individual lack such genes and their proteins, the individual will develop ovaries and female sex characteristics. As such, it is possible to have a malfunctioning Y chromosome and develop as a female, in which

Patients have an increased risk of development of gonadal tumours, most prevalent of which is gonadoblastoma. Pursuant to researchers, approximately 30 per cent of patients develop gonadal tumours. However, some researches found figures as high as 45 per cent. The risk is seen to increase with age.

Diagnosis of pure gonadal dysgenesis

Diagnosis of pure gonadal dysgenesis is done by requesting the blood karyotype of a patient and investigating the patient’s blood hormone levels. The karyotype will reveal to be the 46, XY. The hormones measured should include, among others, luteinising hormone, follicle-stimulating hormone, testosterone and oestrogen. The results should indicate high levels of gonadotropins (luteinising hormone and follicle-stimulating hormone) and low levels of hormones like testosterone and oestrogen.

Pursuant to a diagnosis of pure gonadal dysgenesis, the patient’s gonads should be imaged. This is to ensure that tumours, such as the previously mentioned gonadoblastomas, have not begun developing in the streak gonads.

Treatment of pure gonadal