title: Effects of follicle-stimulating hormone and human chorionic gonadotropin on gonadal steroidogenesis in two siblings with a follicle-stimulating hormone beta subunit mutation.
abstract: OBJECTIVE
  To quantify gonadal steroid responses to different gonadotropin regimens.
  
  
  METHODS
  Transversal clinical study.
  
  
  METHODS
  Academic medical center.
  
  
  METHODS
  A 41-year-old woman and her 37-year-old brother with isolated FSH deficiency due to a homozygous Tyr76X FSH beta subunit gene (FSHB) mutation.
  
  
  METHODS
  Initially, serial LH samples were drawn overnight. After 2-day dexamethasone suppression, steroids were measured at baseline and after hCG, recombinant FSH, or hCG + recombinant FSH administration.
  
  
  METHODS
  Pulse number, peak amplitude, and mean overnight LH levels, as well as basal and stimulated FSH, LH, T, E(2), DHEAS, 17alpha-hydroxyprogesterone (17-OHP), and androstenedione (A).
  
  
  RESULTS
  The mean +/-SD overnight LH was 49.2 +/- 5.7 mIU/mL and 9.1 +/- 2.9 mIU/mL; there were 8 pulses/8 hours and 9 pulses/9 hours, with mean amplitudes of 53.4 +/- 6.5 mIU/mL and 11.7 +/- 1.9 mIU/mL, for the woman and man, respectively. There was no steroid response to recombinant FSH, hCG, or hCG + recombinant FSH in the woman. In the man, T increased after hCG, recombinant FSH, and hCG + recombinant FSH, whereas E(2), A, and 17-OHP increased only after hCG + recombinant FSH.
  
  
  CONCLUSIONS
  This report constitutes the first detailed endocrine study of a man with isolated FSH deficiency due to an FSHB mutation and suggests that FSH may have a positive regulatory effect on healthy LH-stimulated Leydig cells, probably mediated by its primary action on Sertoli cells, in a paracrine mechanism.
authors.affiliation: Department of Medicine, Faculty of Medicine, Section of Endocrinology, University Hospital of Brasilia, University of Brasilia, Brasília, DF, Brazil. adlofrano@unb.br
authors.forename: Adriana
authors.initials: A
authors.lastname: Lofrano-Porto
authors.forename: Luiz Augusto
authors.initials: LA
authors.lastname: Casulari
authors.forename: Paula P
authors.initials: PP
authors.lastname: Nascimento
authors.forename: Leonardo
authors.initials: L
authors.lastname: Giacomini
authors.forename: Luciana A
authors.initials: LA
authors.lastname: Naves
authors.forename: Lucilia Domingues Casulari
authors.initials: LD
authors.lastname: da Motta
authors.forename: Lawrence C
authors.initials: LC
authors.lastname: Layman
mesh_terms: D000328:Adult; D006063:Chorionic Gonadotropin / Q000008:administration & dosage*; D004359:Drug Therapy, Combination; D005260:Female; D005640:Follicle Stimulating Hormone / Q000008:administration & dosage* / Q000172:deficiency*; D037201:Follicle Stimulating Hormone, beta Subunit / Q000235:genetics*; D012739:Gonadal Steroid Hormones / Q000097:blood*; D006066:Gonads / Q000378:metabolism*; D006801:Humans; D008297:Male; D009154:Mutation; D035781:Siblings
chemical_list: D006063:Chorionic Gonadotropin; D037201:Follicle Stimulating Hormone, beta Subunit; D012739:Gonadal Steroid Hormones; D005640:Follicle Stimulating Hormone