2025 ICD-10-CM code Q98.3
This code represents a male individual with a 46, XX karyotype, a condition where a male has two X chromosomes instead of one X and one Y chromosome.
Medical necessity for services related to Q98.3 stems from the need to diagnose and manage the underlying genetic condition and its associated health implications. This may include genetic counseling, hormone therapy, surgical interventions, and psychological support.
Clinical responsibility for individuals with Q98.3 typically involves geneticists, endocrinologists, and other specialists who address the specific developmental and health issues associated with this karyotype.
In simple words: This code describes a rare genetic condition where a person appears male but has the XX chromosome combination usually found in females.
Other male with 46, XX karyotype. This describes a male individual presenting with a 46, XX karyotype, which is typically associated with female development.This condition involves a sex chromosome abnormality where a male has two X chromosomes, unlike the typical XY configuration.
Example 1: A newborn infant presents with ambiguous genitalia. Genetic testing reveals a 46, XX karyotype.Despite the XX karyotype, the individual has external male characteristics. The diagnosis of Q98.3 is assigned., An adolescent male is evaluated for delayed puberty. Karyotyping shows a 46, XX configuration.The patient has other features consistent with this condition, including small testes and gynecomastia. Q98.3 is used to code the diagnosis., A prenatal ultrasound suggests ambiguous genitalia.Amniocentesis and subsequent karyotyping reveal a 46, XX karyotype. After birth, the infant is phenotypically male and receives a diagnosis of Q98.3.
Documentation for Q98.3 should include the results of the karyotype analysis confirming the 46, XX chromosome configuration and a detailed description of the patient's phenotypic presentation, including the presence of external genitalia, secondary sexual characteristics, and any associated developmental abnormalities.
** This code excludes inborn errors of metabolism (E70-E88) and mitochondrial metabolic disorders (E88.4-).
- Specialties:Genetics, Endocrinology, Urology, Pediatrics
- Place of Service:Inpatient Hospital, Outpatient Hospital, Office, Independent Clinic,Telehealth Provided in Patient’s Home, Telehealth Provided Other than in Patient’s Home