title: Testicular function and physical outcome in young adult males diagnosed with idiopathic 46 XY disorders of sex development during childhood.
abstract: OBJECTIVE
  There are few studies of outcome in male patients with undefined 46 XY disorder of sex development (DSD). We aimed to assess testicular function and clinical characteristics after puberty in men with idiopathic 46 XY DSD. Design We conducted a University Hospital-based observational follow-up study.
  
  
  METHODS
  Nineteen patients with severe hypospadias associated with other signs of defective virilization, such as microphallus, cryptorchidism, and/or bifid scrotum, who were initially managed during childhood between 1988 and 1994, were evaluated at a median age of 17.6 (16.3; 17.8) years. Outcome measures included clinical findings and serum testosterone, FSH, LH, and inhibin B concentrations.
  
  
  RESULTS
  Testicular function was normal in only five (26%) patients. Impaired testicular function was observed in 14 (74%) patients and was partial (n=6; 32%) or total (n=8; 42%), requiring testosterone treatment for the initial (n=2) or secondary (n=6) induction of puberty. Undescended testis (unilateral n=3, bilateral n=2) was found and surgically managed only in the 14 patients with testicular impairment. Testosterone treatment in early childhood greatly increased penis length in all patients, but persistent microphallus following surgical treatment was observed at the end of puberty in most patients, with no difference between patients with and without testicular dysfunction (penis length of 68 (60; 75) vs 65 (60; 65) mm; P=0.42). Half the patients presented an adult height more than 5 cm below their target height.
  
  
  CONCLUSIONS
  Men diagnosed with idiopathic 46 XY DSD during childhood are at high risk of testicular insufficiency and persistent micropenis, and this should be taken into account during the follow-up.
authors.affiliation: Pediatric Surgery and Urology Department, Centre de Référence Maladies Endocriniennes Rares de la Croissance, Hôpital Robert Debré Assistance Publique-Hôpitaux de Paris and Univ Paris Diderot, Sorbonne Paris Cité, Paris, France.
authors.forename: Thomas
authors.initials: T
authors.lastname: Blanc
authors.forename: Ahmed
authors.initials: A
authors.lastname: Ayedi
authors.forename: Alaa
authors.initials: A
authors.lastname: El-Ghoneimi
authors.forename: Hendy
authors.initials: H
authors.lastname: Abdoul
authors.forename: Yves
authors.initials: Y
authors.lastname: Aigrain
authors.forename: Françoise
authors.initials: F
authors.lastname: Paris
authors.forename: Charles
authors.initials: C
authors.lastname: Sultan
authors.forename: Jean-Claude
authors.initials: JC
authors.lastname: Carel
authors.forename: Juliane
authors.initials: J
authors.lastname: Léger
mesh_terms: D000293:Adolescent; D000367:Age Factors; D058490:Disorder of Sex Development, 46,XY / Q000175:diagnosis* / Q000378:metabolism / Q000628:therapy*; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D046468:Sexual Development / Q000502:physiology*; D013737:Testis / Q000502:physiology*; D016896:Treatment Outcome; D055815:Young Adult