title: [Clinical and paraclinical features of Klinefelter syndrome consulting for male infertility].
abstract: OBJECTIVE
  To attract urologists' attention on screening of Klinefelter syndrome consulting for infertility, describing its usual phenotype, in order to propose a possible reproductive technique, to prevent and to treat associated comorbidities and to manage the frequent discovery of ultrasonographic testicular lesions.
  
  
  METHODS
  Retrospective analysis over 10 years of clinical and paraclinical features of the patients who consulted for infertility and had a 47,XX7 regular or mosaic karyotype.
  
  
  RESULTS
  One hundred and forty-nine patients, 31.7 year-old on average [20.7-42.7], all had a severe bilateral testicular hypotrophy, subsequently confirmed by ultrasonography (mean total testicular volume: 3.7 mL [-0.20-7.64]). One hundred and twenty-two (81.9%) had normal secondary sexual characteristics, only 4 of them (2.7%) already knew their diagnosis. Their mean total testosterone levels were low (3.12 ng/mL [0.39-5.86]) but remain normal. A total of 34.2% of patients had subclinical testicular nodules discovered by ultrasonography. Excision was performed in 12 cases, confirming Leydig cell tumors.
  
  
  CONCLUSIONS
  Klinefelter syndrome diagnosis can be made during a first consultation with a bilateral testicular hypotrophy as "pathognomonic" point of call in an often poor clinical observation. It is completed by an azoospermia or severe oligozoospermia. If they want to, this allows to quickly guide patients to suitable medical reproductive technique but, especially, to prevent and quickly treat comorbidities associated to this diagnosis, and also to reassure patients about the frequent discovery of subclinical testicular lesions.
authors.affiliation: Service d'andrologie, hôpital Albert-Calmette, CHRU de Lille, boulevard du Professeur-Jules-Leclercq, 59037 Lille cedex, France; Département d'urologie, hôpital Saint-Philibert, GHICL, 115, rue du Grand-But, BP 249, 59462 Lomme cedex, France. Electronic address: rock.aurelien@ghicl.net.
authors.forename: A
authors.initials: A
authors.lastname: Rock
authors.affiliation: Service d'andrologie, hôpital Albert-Calmette, CHRU de Lille, boulevard du Professeur-Jules-Leclercq, 59037 Lille cedex, France.
authors.forename: F
authors.initials: F
authors.lastname: Marcelli
authors.affiliation: Service d'andrologie, hôpital Albert-Calmette, CHRU de Lille, boulevard du Professeur-Jules-Leclercq, 59037 Lille cedex, France; Service de médecine de la reproduction, hôpital Jeanne-de-Flandres, CHRU de Lille, avenue Eugène-Avinée, 59037 Lille cedex, France.
authors.forename: G
authors.initials: G
authors.lastname: Robin
authors.affiliation: Laboratoire de spermiologie, hôpital Albert-Calmette, CHRU de Lille, boulevard du Professeur-Jules-Leclercq, 59000 Lille cedex, France.
authors.forename: V
authors.initials: V
authors.lastname: Mitchell
authors.affiliation: Service d'andrologie, hôpital Albert-Calmette, CHRU de Lille, boulevard du Professeur-Jules-Leclercq, 59037 Lille cedex, France; Service d'endocrinologie, hôpital Huriez, CHRU de Lille, rue Michel-Polonovski, 59037 Lille cedex, France.
authors.forename: C
authors.initials: C
authors.lastname: Leroy
authors.affiliation: Service d'andrologie, hôpital Albert-Calmette, CHRU de Lille, boulevard du Professeur-Jules-Leclercq, 59037 Lille cedex, France.
authors.forename: J-M
authors.initials: JM
authors.lastname: Rigot
mesh_terms: D000328:Adult; D006801:Humans; D007248:Infertility, Male / Q000209:etiology; D007713:Klinefelter Syndrome / Q000150:complications / Q000175:diagnosis*; D008297:Male; D012189:Retrospective Studies; D055815:Young Adult
keywords: Anomalie des chromosomes sexuels; Azoospermia; Azoospermie; Hypogonadism and testicular atrophy; Hypogonadisme et atrophie testiculaire; Infertility; Infertilité masculine; Klinefelter syndrome; Leydig cell tumor; Male; Sex chromosome aberrations; Syndrome de Klinefelter; Tumeurs à cellules de Leydig