title: Increased basal and pulsatile secretion of FSH and LH in young men with 47,XXY or 46,XX karyotypes.
abstract: OBJECTIVE
  The regulation of normal sexual maturation and reproductive function is dependent on a precise hormonal regulation at hypothalamic, pituitary, and gonadal levels. The aim of this study was to investigate the neuroendocrine integrity of the pituitary-gonadal axis in patients with primary testicular failure due to supernumerary X chromosomes.
  
  
  METHODS
  Cross-sectional study.
  
  
  METHODS
  In this study, 7 untreated patients with primary gonadal insufficiency due to SRY-positive 46,XX (n=4) and 46,XXY karyotypes (n=3) aged 18.8 years and 25 age-matched healthy controls participated. Reproductive hormones, testicular size, and overnight LH and FSH serum profiles and overnight urine LH and FSH excretion were determined.
  
  
  RESULTS
  Basal LH and FSH secretion was elevated 6.3- and 25.4-fold respectively in the patients and the amount of LH and FSH secreted per burst were 2.0- and 6.6-fold elevated. We found significantly more LH but not FSH peaks per 24 h, as estimated by the Weibull lambda analysis. There was no difference between approximate entropy ratios or Weibull gamma analyses indicating comparable orderliness and regularity of LH and FSH secretion. Overnight urinary LH and FSH excretion was significantly elevated in patients compared with controls and correlated significantly with calculated total overnight LH and FSH secretion respectively, thus validating deconvolution.
  
  
  CONCLUSIONS
  In this group of patients with severe hypergonadotropic hypogonadism due to a supernumerary X chromosome, higher basal, pulsatile, and total LH and FSH secretion were associated with significantly more LH peaks per 24 h in comparison with healthy controls. Thus, our data indicate that in patients with Klinefelter syndrome and XX male karyotypes the entire hypothalamic-pituitary-gonadal axis has undergone functional changes.
authors.affiliation: University Department of Growth and Reproduction GR, Rigshospitalet, University of Copenhagen, Section 5064, Blegdamsvej 9, DK-2100 Copenhagen Ø, Denmark. lise.aksglaede@rh.hosp.dk
authors.forename: Lise
authors.initials: L
authors.lastname: Aksglaede
authors.forename: Rikke Beck
authors.initials: RB
authors.lastname: Jensen
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Carlsen
authors.forename: Petra
authors.initials: P
authors.lastname: Kok
authors.forename: Daniel M
authors.initials: DM
authors.lastname: Keenan
authors.forename: Johannes
authors.initials: J
authors.lastname: Veldhuis
authors.forename: Niels E
authors.initials: NE
authors.lastname: Skakkebaek
authors.forename: Anders
authors.initials: A
authors.lastname: Juul
mesh_terms: D000293:Adolescent; D000328:Adult; D003430:Cross-Sectional Studies; D005640:Follicle Stimulating Hormone / Q000097:blood* / Q000378:metabolism; D006801:Humans; D007006:Hypogonadism / Q000097:blood / Q000235:genetics / Q000473:pathology; D007986:Luteinizing Hormone / Q000097:blood* / Q000378:metabolism; D008297:Male; D012729:Sex Chromosome Aberrations; D014997:XYY Karyotype / Q000097:blood* / Q000235:genetics*
chemical_list: D007986:Luteinizing Hormone; D005640:Follicle Stimulating Hormone