title: 46,XX/SRY-negative true hermaphrodite.
abstract: OBJECTIVE
  To describe genetic evaluation and response to surgery and letrozole therapy of a 46,XX/SRY-negative true hermaphrodite.
  
  
  METHODS
  Case report.
  
  
  METHODS
  University Medical Center.
  
  
  METHODS
  Nineteen-year-old male with penile hypospadias, micropenis, and crytorchidism at the time of birth.
  
  
  METHODS
  Unilateral gonadectomy, and contralateral conservative gonadal surgery, followed by therapy with letrozole.
  
  
  METHODS
  Histopathologic, genetic and hormonal studies.
  
  
  RESULTS
  Genetic analysis showed that the subject was 46,XX/SRY-negative. Gonadectomy of the left gonad was performed at 16 years. The gonad resected was an ovotestes. The patient's estradiol was high (492±25 pmol/L), whereas the testosterone was low (4.2±0.5 nmol/L). Nineteen months later, conservative gonadal surgery of the contralateral gonad was performed to resect ovarian tissue, and treatment with letrozole was started. During letrozole treatment, testosterone was significantly increased (8±0.7 nmol/L), but estradiol was not changed (323±118 pmol/L). After letrozole withdrawal, testosterone did not decreased significantly (6.9±0.4 nmol/L), estradiol showed an oscillating pattern and a gonadal ultrasound showed an ovoid structure, which appeared to correspond to a follicle. At that time, estradiol was elevated (393 pmol/L).
  
  
  CONCLUSIONS
  We present the case of a 46,XX/SRY-negative phenotypic male with bilateral ovotestes. Conservative gonadal surgery should be performed only when all ovarian tissue can be resected. Our results suggest that letrozole is not an adequate treatment for 46,XX true hermaphrodite males with ovotestes.
authors.affiliation: Institute of Maternal and Child Research, School of Medicine, University of Chile, and Endocrinology Department, San Borja-Arriaran Clinical Hospital, Santiago, Chile.
authors.forename: Alexis
authors.initials: A
authors.lastname: Parada-Bustamante
authors.forename: Rafael
authors.initials: R
authors.lastname: Ríos
authors.forename: Mauricio
authors.initials: M
authors.lastname: Ebensperger
authors.forename: María Cecilia
authors.initials: MC
authors.lastname: Lardone
authors.forename: Antonio
authors.initials: A
authors.lastname: Piottante
authors.forename: Andrea
authors.initials: A
authors.lastname: Castro
mesh_terms: D047072:Aromatase Inhibitors / Q000627:therapeutic use; D002369:Castration / Q000379:methods; D002877:Chromosomes, Human; D017353:Gene Deletion; D006801:Humans; D000077289:Letrozole; D008297:Male; D009570:Nitriles / Q000627:therapeutic use; D050090:Ovotesticular Disorders of Sex Development / Q000097:blood / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy*; D051876:Sex-Determining Region Y Protein / Q000235:genetics; D014230:Triazoles / Q000627:therapeutic use; D055815:Young Adult
chemical_list: D047072:Aromatase Inhibitors; D009570:Nitriles; C497745:SRY protein, human; D051876:Sex-Determining Region Y Protein; D014230:Triazoles; D000077289:Letrozole