title: Clinical, biological and genetic analysis of anorchia in 26 boys.
abstract: BACKGROUND
  Anorchia is defined as the absence of testes in a 46,XY individual with a male phenotype. The cause is unknown.
  
  
  METHODS
  We evaluated the clinical and biological presentation, and family histories of 26 boys with anorchia, and sequenced their SRY, NR5A1, INSL3, MAMLD1 genes and the T222P variant for LGR8.
  
  
  RESULTS
  No patient had any associated congenital anomaly. At birth, testes were palpable bilaterally or unilaterally in 13 cases and not in 7; one patient presented with bilateral testicular torsion immediately after birth. The basal plasma concentrations of anti-Müllerian hormone (AMH, n = 15), inhibin B (n = 7) and testosterone (n = 19) were very low or undetectable in all the patients evaluated, as were the increases in testosterone after human chorionic gonadotropin (hCG, n = 12). The basal plasma concentrations of follicle stimulating hormone (FSH) were increased in 20/25, as was that of luteinising hormone in 10/22 cases. Family members of 7/26 cases had histories of primary ovarian failure in the mother (n = 2), or sister 46,XX, together with fetal malformations of the only boy with microphallus and secondary foot edema (n = 1), secondary infertility in the father (n = 2), or cryptorchidism in first cousins (n = 2). The sequences of all the genes studied were normal.
  
  
  CONCLUSIONS
  Undetectable plasma concentrations of AMH and inhibin B and an elevated plasma FSH, together with 46,XY complement are sufficient for diagnosis of anorchia. The hCG test is unnecessary. NR5A1 and other genes implicated in gonadal development and testicle descent were not mutated, which suggests that other genes involved in these developments contribute to the phenotypes.
authors.affiliation: Université Paris Descartes and AP-HP, Hôpital Bicêtre, Unité d'Endocrinologie Pédiatrique, Le Kremlin Bicêtre, France. raja.brauner@wanadoo.fr
authors.forename: Raja
authors.initials: R
authors.lastname: Brauner
authors.forename: Mathieu
authors.initials: M
authors.lastname: Neve
authors.forename: Slimane
authors.initials: S
authors.lastname: Allali
authors.forename: Christine
authors.initials: C
authors.lastname: Trivin
authors.forename: Henri
authors.initials: H
authors.lastname: Lottmann
authors.forename: Anu
authors.initials: A
authors.lastname: Bashamboo
authors.forename: Ken
authors.initials: K
authors.lastname: McElreavey
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D005260:Female; D006061:Gonadal Dysgenesis, 46,XY / Q000150:complications / Q000235:genetics* / Q000473:pathology* / Q000601:surgery; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D013737:Testis / Q000002:abnormalities / Q000473:pathology / Q000601:surgery