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Article

Mutation of the MIF type II receptor in two brothers.

Journal of pediatric endocrinology & metabolism : JPEM - 1 Mar 2010

Rosal-Gonçalves Margarida, Almeida Catarina, Barber José, Kay Teresa, Limbert Catarina, Lopes Lurdes, Fonseca Guilhermina

Abstract excerpt

The Müllerian inhibiting factor (MIF) is responsible for regression of Müllerian ducts during male sexual differentiation. Mutations in MIF or its type II receptor lead to persistence of the uterus and Fallopian tubes in male children--i.e., persistent Müllerian duct syndrome (PMDS). Both are rare autosomal recessive disorders. We report a 7-month-old male infant who underwent inguinal herniorrhaphy. Remnants of...

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Source

Identifiers

PMID: 20480734
DOI: 10.1515/jpem.2010.23.3.315

Genes

MIF

Provenance

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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