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Article

Identification of a new mutation in the SRY gene in a 46,XY woman with Swyer syndrome.

Fertility and sterility - 1 Mar 2009

Marchina Eleonora, Gambera Alessandro, Spinelli Elide, Clerici Paola, Scagliola Pasquale, Sartori Enrico, Barlati Sergio

Abstract excerpt

OBJECTIVE: To determine the genetic cause of primary amenorrhea in a 46,XY woman. DESIGN: Case report. SETTING: Centre of Gynecological Endocrinology and Cytogenetics and Molecular Genetics Laboratory of university medical school. PATIENT(S): A 19-year-old woman referred for primary amenorrhea. INTERVENTION(S): Clinical, endocrinologic, and ultrasonographic investigation and SRY mutation analysis. MAIN OUTCOME...

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Source

Identifiers

PMID: 18990383
DOI: 10.1016/j.fertnstert.2008.07.1722

Genes

SRY
PRL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Identification of a new mutation in the SRY gene in a 46,XY woman with Swyer syndrome.PMID 18990383Read ↗

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A Novel SRY Pathogenic Variant from a 46,XY Female Harboring a Nonsense Point Mutation (G to A) in Position 293Semantic proximity Read ↗

Primary amenorrhea in a 46,XY adolescent girl with partial gonadal dysgenesis: identification of a new SRY gene mutation.Semantic proximity Read ↗

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A novel sex-determining region on Y (SRY) nonsense mutation identified in a 45,X/47,XYY female.Semantic proximity Read ↗

A novel double nucleotide substitution in the HMG box of the SRY gene associated with Swyer syndrome.Semantic proximity Read ↗

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