The use of cytogenetic techniques for the diagnosis of endocrine diseases

Chromosome analysis is the genetic technique useful in evaluating endocrine disease. Indications for cytogenetic studies include suspected sex chromosomal aneuploidies as well as repeated fetal wastage. In patients with ambiguous genitalia, cytogenetic studies are mandatory, not only to provide information for assigning sex but, more importantly, for identifying individuals who are at risk for developing gonadal tumors because of the combination of a Y chromosome and dysgenetic gonads.