Gonadal dysgenesis

Abstract

Gonadal dysgenesis is a group of disorders that results from chromosomal anomalies and it is usually associated with amenorrhea in affected females. Gonadal dysgenesis can be complete (CGD) or partial (PGD). Within these broad categories, the disorders peculiar to females include monosomy X (45X), Swyer syndrome (46XY CGD), 46XX CGD, and Turner syndrome mosaiscm (45X/XX or XY). Optimal testicular and ovarian differentiation requires Y chromosome with sex-determining region and a complete second X chromosome respectively. Turner syndrome (TS) has typical features and can be diagnosed as early as in prenatal period while 46XX and 46XY CGD may only be obvious during adolescence when the affected individuals fail to enter puberty. Timely replacement of appropriate hormones ensures optimal growth for TS patients as well as the development of secondary sexual characters for all categories of CGD. Conception is only possible in CGD through in vitro fertilization using donor eggs. Cases of gonadal dysgenesis where karyotyping shows presence of Y chromosome will benefit from prophylactic gonadectomy because of risk of malignant transformation.