Gonadal dysgenesis

Gonadal dysgenesis refers to a congenital disorder characterized by abnormal development of the gonads (testes or ovaries), leading to their partial or complete absence or malformation. This results in impaired or absent production of sex hormones and germ cells, often manifesting as primary amenorrhea, infertility, and ambiguous genitalia or underdeveloped secondary sexual characteristics.

This code is appropriate for documenting a confirmed diagnosis of gonadal dysgenesis, such as Turner syndrome (45,X karyotype) or Swyer syndrome (46,XY complete gonadal dysgenesis). Documentation supporting its use typically includes genetic testing results, karyotype analysis, hormonal assays, and clinical findings consistent with gonadal developmental failure.

• Specify the underlying cause or syndrome (e.g., Turner syndrome) with an additional code if known, as gonadal dysgenesis is a broad term.
• Distinguish from other causes of primary amenorrhea or hypogonadism that are not due to congenital gonadal malformation.
• Consider sequencing this code as a primary diagnosis when it is the main reason for the encounter, especially for diagnostic workup or management of associated conditions.