title: SF1 and spleen development: new heterozygous mutation, literature review and consequences for NR5A1-mutated patient's management.
abstract: Steroidogenic factor 1 (encoded by SF1/NR5A1) is a transcription factor with multiple target genes involved in the development and function of multiple steroidogenic and non-steroidogenic tissues. NR5A1 mutations lead to several phenotypes, including sex reversal, spermatogenesis failure, premature ovarian failure and adrenocortical insufficiency. The implication of NR5A1 mutations in spleen development anomalies was recently highlighted. We provide new evidence of this involvement, describing a novel heterozygous non-sense NR5A1 mutation in a 46,XY-DSD with polysplenia female proband and her father, who had hypospadias and asplenia.
authors.affiliation: CHU Lille, Clinique de Génétique Guy Fontaine, Lille, France.|EA 7364, RADEME, Maladies RAres du Développement et du Métabolisme: du phénotype au génotype et à la Fonction, Université de Lille, Lille, France.
authors.forename: C
authors.identifier: http://orcid.org/0000-0002-1664-2775
authors.initials: C
authors.lastname: Colson
authors.affiliation: CHU Lille, Service de Chirurgie Viscérale Pédiatrique, Lille, France.
authors.forename: E
authors.initials: E
authors.lastname: Aubry
authors.affiliation: EA 7364, RADEME, Maladies RAres du Développement et du Métabolisme: du phénotype au génotype et à la Fonction, Université de Lille, Lille, France.|CHU Lille, Service d'Endocrinologie Pédiatrique, Lille, France.
authors.forename: M
authors.initials: M
authors.lastname: Cartigny
authors.affiliation: CHU Lille, Clinique de Génétique Guy Fontaine, Lille, France.|CHU Lille, Service d'Endocrinologie Pédiatrique, Lille, France.
authors.forename: A-A
authors.initials: AA
authors.lastname: Rémy
authors.affiliation: CHU Lille, Institut de pathologie, Lille, France.
authors.forename: H
authors.initials: H
authors.lastname: Franquet
authors.affiliation: EA 7364, RADEME, Maladies RAres du Développement et du Métabolisme: du phénotype au génotype et à la Fonction, Université de Lille, Lille, France.|CHU Lille, Institut de pathologie, Lille, France.
authors.forename: X
authors.initials: X
authors.lastname: Leroy
authors.affiliation: CHU Lille, Pédopsychiatrie, Lille, France.
authors.forename: G
authors.initials: G
authors.lastname: Kéchid
authors.affiliation: CHU Lille, Service d'Endocrinologie Pédiatrique, Lille, France.
authors.forename: C
authors.initials: C
authors.lastname: Lefèvre
authors.affiliation: CHU Lille, Service de Chirurgie Viscérale Pédiatrique, Lille, France.
authors.forename: R
authors.initials: R
authors.lastname: Besson
authors.affiliation: Endocrinologie & Diabetologie voor kinderen en adolescenten, Universitair Ziekenhuis Gent, Belgium.
authors.forename: M
authors.initials: M
authors.lastname: Cools
authors.affiliation: Urologie, Universitair Ziekenhuis Gent, Belgium.
authors.forename: A F
authors.initials: AF
authors.lastname: Spinoit
authors.affiliation: Département de Biochimie et Hormonologie, CHU Montpellier, France.|Université de Montpellier, CNRS UPR 1142 Institut de génétique Humaine, Equipe "Développement et Pathologie de la Gonade", Montpellier, France.
authors.forename: C
authors.initials: C
authors.lastname: Sultan
authors.affiliation: CHU Lille, Clinique de Génétique Guy Fontaine, Lille, France.|EA 7364, RADEME, Maladies RAres du Développement et du Métabolisme: du phénotype au génotype et à la Fonction, Université de Lille, Lille, France.
authors.forename: S
authors.initials: S
authors.lastname: Manouvrier
authors.affiliation: Département de Biochimie et Hormonologie, CHU Montpellier, France.|Université de Montpellier, CNRS UPR 1142 Institut de génétique Humaine, Equipe "Développement et Pathologie de la Gonade", Montpellier, France.
authors.forename: P
authors.initials: P
authors.lastname: Philibert
authors.affiliation: CHU Lille, Clinique de Génétique Guy Fontaine, Lille, France.|EA 7364, RADEME, Maladies RAres du Développement et du Métabolisme: du phénotype au génotype et à la Fonction, Université de Lille, Lille, France.
authors.forename: J
authors.initials: J
authors.lastname: Ghoumid
mesh_terms: D000293:Adolescent; D000309:Adrenal Insufficiency / Q000235:genetics* / Q000473:pathology; D002648:Child; D005260:Female; D006579:Heterozygote; D006801:Humans; D007021:Hypospadias / Q000235:genetics* / Q000473:pathology; D008297:Male; D009154:Mutation; D016649:Primary Ovarian Insufficiency / Q000235:genetics* / Q000473:pathology; D019849:Sex Determination Processes / Q000235:genetics; D013091:Spermatogenesis / Q000235:genetics; D013154:Spleen / Q000254:growth & development / Q000473:pathology; D054339:Steroidogenic Factor 1 / Q000235:genetics*
chemical_list: C515057:NR5A1 protein, human; D054339:Steroidogenic Factor 1
keywords: 46,XY-DSD; SF1; c.1227C>A; spleen development