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Article

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

Fertility and sterility - 1 Nov 2007

Paris Françoise, Philibert Pascal, Lumbroso Serge, Baldet Pierre, Charvet Jean Pierre, Galifer René-Benoît, Sultan Charles

Abstract excerpt

OBJECTIVE: To determine the genetic cause of primary amenorrhea in a 46,XY adolescent girl. DESIGN: Case report. SETTING: Pediatric endocrinology and gynecologic unit of an academic hospital. PATIENT(S): A 16-year-old adolescent referred for primary amenorrhea. INTERVENTION(S): Endocrine and surgical investigation, SRY mutational analysis. MAIN OUTCOME MEASURE(S): Plasma gonadotropin levels, estradiol and...

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Source

Identifiers

PMID: 17493621
DOI: 10.1016/j.fertnstert.2007.01.048

Genes

SRY

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.

Related research

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Primary amenorrhea in a 46,XY adolescent girl with partial gonadal dysgenesis: identification of a new SRY gene mutation.PMID 17493621Read ↗

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