title: Impaired puberty, fertility, and final stature in 45,X/46,XY mixed gonadal dysgenetic patients raised as boys.
abstract: BACKGROUND
  Gender assignment followed by surgery and hormonal therapy is a difficult decision in the management of 45,X/46,XY patients with abnormal external genitalia at birth considering the paucity of studies evaluating pubertal development and fertility outcome, most notably for patients raised as boys.
  
  
  OBJECTIVE
  The purpose of this study was to describe the pubertal course of 20 45,X/46,XY patients born with ambiguous genitalia and raised as boys.
  
  
  METHODS
  This is a multicenter retrospective study.
  
  
  RESULTS
  Mean age at study was 25.6±2.4 years. Eighty-five percent of the patients presented a 'classical' mixed gonadal dysgenetic phenotype at birth. Puberty was initially spontaneous in all but three boys, although in six other patients, testosterone therapy was subsequently necessary for completion of puberty. Sixty-seven percent of the remaining patients presented signs of declined testicular function at the end of puberty (increased levels of FSH and low levels of testosterone and/or inhibin B). Moreover, an abnormal structure of the Y chromosome, known to alter fertility, was found in 10 out of 16 (63%) patients. Two patients developed testicular cancer. Half of the patients have adult penile length of <80 mm. Mean adult height is 156.9±2 cm, regardless of GH treatment.
  
  
  CONCLUSIONS
  In summary, 45,X/46,XY children born with ambiguous genitalia and raised as boys have an altered pubertal course and impaired fertility associated with adult short stature, which should, therefore, be taken into consideration for the management of these patients.
authors.affiliation: Pediatric Endocrinology Department, Bicêtre Hospital, 78 Rue du Général Leclerc, Le Kremlin Bicêtre, France.
authors.forename: Laetitia
authors.initials: L
authors.lastname: Martinerie
authors.forename: Yves
authors.initials: Y
authors.lastname: Morel
authors.forename: Claire-Lise
authors.initials: CL
authors.lastname: Gay
authors.forename: Catherine
authors.initials: C
authors.lastname: Pienkowski
authors.forename: Marc
authors.initials: M
authors.lastname: de Kerdanet
authors.forename: Sylvie
authors.initials: S
authors.lastname: Cabrol
authors.forename: Claudine
authors.initials: C
authors.lastname: Lecointre
authors.forename: Regis
authors.initials: R
authors.lastname: Coutant
authors.forename: Sabine
authors.initials: S
authors.lastname: Baron
authors.forename: Michel
authors.initials: M
authors.lastname: Colle
authors.forename: Raja
authors.initials: R
authors.lastname: Brauner
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Thibaud
authors.forename: Juliane
authors.initials: J
authors.lastname: Leger
authors.forename: Claire
authors.initials: C
authors.lastname: Nihoul-Fekete
authors.forename: Claire
authors.initials: C
authors.lastname: Bouvattier
mesh_terms: D000293:Adolescent; D000328:Adult; D001827:Body Height / Q000502:physiology*; D002648:Child; D002668:Child Rearing; D005500:Follow-Up Studies; D006060:Gonadal Dysgenesis, Mixed / Q000150:complications* / Q000453:epidemiology / Q000503:physiopathology*; D006130:Growth Disorders / Q000453:epidemiology / Q000503:physiopathology*; D006801:Humans; D007248:Infertility, Male / Q000453:epidemiology / Q000209:etiology* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D011627:Puberty / Q000502:physiology*; D012189:Retrospective Studies; D012737:Sex Factors; D055815:Young Adult