title: Primary amenorrhea in a 46,XY adolescent girl with partial gonadal dysgenesis: identification of a new SRY gene mutation.
abstract: OBJECTIVE
  To determine the genetic cause of primary amenorrhea in a 46,XY adolescent girl.
  
  
  METHODS
  Case report.
  
  
  METHODS
  Pediatric endocrinology and gynecologic unit of an academic hospital.
  
  
  METHODS
  A 16-year-old adolescent referred for primary amenorrhea.
  
  
  METHODS
  Endocrine and surgical investigation, SRY mutational analysis.
  
  
  METHODS
  Plasma gonadotropin levels, estradiol and testosterone levels, and pathologic findings.
  
  
  RESULTS
  We report a new mutation of the SRY gene in a 46,XY sex-reversed patient. We observed two unusual features. First, partial pubertal development has rarely been described in association with SRY gene mutation. Second, the location of the mutation was in the HMG box region of the SRY gene, in contrast to the other partial cases of 46,XY gonadal dysgenesis. In addition, the presence of a gonadoblastoma underlines the necessity of removing the gonads quickly in 46,XY sex-reversal cases, and raises several questions about the role of the SRY gene in the development of such tumors.
  
  
  CONCLUSIONS
  Partial pubertal development in a 46,XY sex-reversed patient does not exclude SRY gene mutation.
authors.affiliation: Service d'Hormonologie, CHU de Montpellier, Montpellier, France.
authors.forename: Françoise
authors.initials: F
authors.lastname: Paris
authors.forename: Pascal
authors.initials: P
authors.lastname: Philibert
authors.forename: Serge
authors.initials: S
authors.lastname: Lumbroso
authors.forename: Pierre
authors.initials: P
authors.lastname: Baldet
authors.forename: Jean Pierre
authors.initials: JP
authors.lastname: Charvet
authors.forename: René-Benoît
authors.initials: RB
authors.lastname: Galifer
authors.forename: Charles
authors.initials: C
authors.lastname: Sultan
mesh_terms: D000293:Adolescent; D000568:Amenorrhea / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D024282:Genes, sry / Q000235:genetics*; D006061:Gonadal Dysgenesis, 46,XY / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D009154:Mutation