ICD-11 classes
20 Developmental anomalies
Chromosomal anomalies, excluding gene mutations
Sex chromosome anomalies
LD52 — Number anomalies of chromosome Y
LD52.0 — Male with 46,XX karyotype

ICD-11 LD52.0 — Male with 46,XX karyotype

A disease affecting males, characterised by hypergonadotrophic hypogonadism, testosterone deficiency, and infertility. This condition may also present with hypospadias. This disease may be associated with abnormal crossing over of the sex chromosomes during meiosis in the father, resulting in the SRY gene being present on one or both copies of the X chromosome.

The diagnosis includes nothing.

The diagnosis excludes nothing.

It has no clarifying diagnoses.