Testicular Feminization Syndrome (TFM)

Testicular Feminization Syndrome (TFM) or Androgen insensitivity syndrome may be complete or partial. Patients with AIS may come to attention in utero or at birth because of inconsistency between prenatal karyotype (male) and ultrasound findings of a female fetus, or at birth because of ambiguous genitalia. Alternatively, patients may present during the pubertal years because of a presumed inguinal hernia (abdominal or inguinal testes), absence of pubic/auxiliary hair, or lack of onset of menses. The mature phenotype is often “voluptuously” feminine, with very well-developed breasts and luxuriant scalp hair. In the partial form, patients may exhibit hypospadias, micropenis, or fusion of the labial folds, associated with the occurrence of virilization at puberty. Heterozygous females may exhibit patchy changes in hair distribution and irregular menses due to skewed inactivation of the X-chromosome. Of note, Kennedy disease is an independent disorder due to an expansion of a CAG repeat in the AR gene and is not diagnosed with this test

Tests Available

Forms and Documents

Test Details

AR
  • Full gene sequencing testing for fetuses with prenatal ultrasound findings suggestive of AIS.
  • Prenatal diagnosis when karyotype is 46,XY and ultrasound shows female genitalia
  • Prenatal diagnosis in at-risk pregnancies
  • Capillary Sequencing

Ordering

2201
2-3 weeks
20 mL Amniotic Fluid
20 mg CVS|2 T25 flasks of cultured amniocytes|2 T25 flasks of cultured chorionic villi|3 Ug DNA Concentration

Billing

81405x1, 81265x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Ahmed et al., (2000) JCEM. 85:658-665
  2. Batch et al., (1992) Hum Molec Genet 1:497-503
  3. Hiort et al., (1994) Eur J Pediatr 153:317-321
  4. Albers et al., (1997) J Pediatr 131:386-392
  5. Wang et al., (2004) Eur J Hum Genet 12:706-712
  6. Avila et al., (2002) JCEM 87:182-188
  7. Hannema et al., (2004) JCEM 89:5815-5822
  8. Gottlieb et al (2004) Hum Mutat 23:527-533
  9. Gottleib et al. (Updated [May 24, 2008]). Androgen Insensitivity Syndrome