46,XY Gonadal Dysgenesis With or Without Polyneuropathy (DHH-related)

Mutations in the DHH gene result in a 46,XY disorder of sex development (DSD) with or without polyneuropathy. Several individuals with DHH mutations have presented with isolated 46,XY complete gonadal dysgenesis characterized by female external genitalia, bilateral streak gonads, and the presence of Mullerian structures, including bilateral Fallopian tubes and an immature uterus . Mutations in DHH have also been reported in an individual with 46,XY partial gonadal dysgenesis, resulting in external female genitalia with a blindending vagina, one testis and one streak gonad, and an immature uterus. In addition, this individual also exhibited polyneuropathy with extensive minifascicle formation on sural nerve biopsy . Parents of individuals with DHH-related 46,XY DSD who are obligate carriers of a single heterozygous mutation have not been reported to exhibit any evidence of gonadal dysgenesis or polyneuropath

Tests Available

Forms and Documents

Test Details

  • To differentiate DHH-associated DSD from other disorders causing XY gonadal dysgenesis
  • Genetic counseling
  • Carrier testing in at-risk family members
  • Prenatal diagnosis for known mutation
  • Capillary Sequencing Reflex to Exon Array


4 weeks
2-5 mL Blood - Lavender Top Tube
Oral Rinse (30-40 mL)|Buccal Swabs


* For price inquiries please email zebras@genedx.com


  1. Canto et al., (2004) J Clin Endocrinol Metab 89:4480-4483
  2. Canto et al., (2005) Molec Hum Reprod 11:833-836
  3. Baets et al., (2009) Neurom Disor 19;172-175
  4. McElreavey, K. (January 2010) Genetic Disorders of Sex Differentiation Presented at Hormonal and Genetic Basis of Sexual Differentiation Disorder and Hot Topics in Endocrinology, Miami, FL
  5. Umehara et al., (2000) Am J Hum Genet 67:1302-1305