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Article

Syndromic true hermaphroditism due to an R-spondin1 (RSPO1) homozygous mutation.

Human mutation - 1 Feb 2008

Tomaselli Sara, Megiorni Francesca, De Bernardo Carmelilia, Felici Aldo, Marrocco Giacinto, Maggiulli Giorgio, Grammatico Barbara, Remotti Daniele, Saccucci Pietro, Valentini Ferdinando, Mazzilli Maria Cristina, Majore Silvia, Grammatico Paola

Abstract excerpt

XX true hermaphroditism, also know as ovotesticular disorder of sexual development (DSD), is a disorder of gonadal development characterized by the presence of both ovarian and testicular tissue in a 46,XX individual. The genetic basis for XX true hermaphroditism and sex reversal syndromes unrelated to SRY translocation is still mostly unclear. We report mutational analysis of the RSPO1 gene in a 46,XX woman with...

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Identifiers

PMID: 18085567
DOI: 10.1002/humu.20665

Genes

RSPO1
SRY

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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