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