Arthur R., 20th-century U.S. internist. See: Sohval-Soffer syndrome.
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Sohval in 1963 first described mixed gonadal dysgenesis (MGD).[sup.1] Most patients have a 45,X/46,XY karyotype, and have an abnormal testis with contralateral streak gonad.[sup.2] This is thought to occur via chromosomal misaggregation secondary to anaphase lag or chromosomal rearrangement during early embryonic mitosis.[sup.3] The phenotypic abnormalities are the result of incomplete inhibition of mullerian structures, incomplete mesonephric duct structure differentiation and incomplete masculanization of external genitalia.[sup.4] In fact, in one series, 95% of MGD patients had mullerian remnants and 75% of streak gonads had an ipsilateral fallopian tube.[sup.4] Therefore, it is obvious that individuals with 45,X/46,XY karyotype and MGD may present with a variable phenotype.