title: The FSH-inhibin axis in prader-willi syndrome: heterogeneity of gonadal dysfunction.
abstract: BACKGROUND
  We characterized the spectrum and etiology of hypogonadism in a cohort of Prader-Willi syndrome (PWS) adolescents and adults.
  
  
  METHODS
  Reproductive hormonal profiles and physical examination were performed on 19 males and 16 females ages 16-34 years with PWS. Gonadotropins, sex-steroids, inhibin B (INB) and anti-Mullerian hormone (AMH) were measured. We defined 4 groups according to the relative contribution of central and gonadal dysfunction based on FSH and INB levels: Group A: primary hypogonadism (FSH >15 IU/l and undetectable INB (<10 pg/ml); Group B: central hypogonadism (FSH <0.5 IU/l, INB <10 pg/ml); Group C: partial gonadal & central dysfunction (FSH 1.5-15 IU/l, INB >20 pg/ml); Group D: mild central and severe gonadal dysfunction (FSH 1.5-15 IU/l, INB < 10 pg/ml.
  
  
  RESULTS
  There were 10, 8, 9 and 8 individuals in Groups A-D respectively; significantly more males in group A (9, 4, 4 and 2; P = 0.04). Significant differences between the groups were found in mean testosterone (P = 0.04), AMH (P = 0.003) and pubic hair (P = 0.04) in males and mean LH (P = 0.003) and breast development (P = 0.04) in females. Mean age, height, weight, BMI and the distribution of genetic subtypes were similar within the groups.
  
  
  CONCLUSIONS
  Analysis of FSH and inhibin B revealed four distinct phenotypes ranging from primary gonadal to central hypogonadism. Primary gonadal dysfunction was common, while severe gonadotropin deficiency was rare. Longitudinal studies are needed to verify whether the individual phenotypes are consistent.
authors.affiliation: Multidisciplinary Prader-Willi Syndrome Clinic, Shaare Zedek Medical Center, Jerusalem, Israel.
authors.forename: Varda
authors.initials: V
authors.lastname: Gross-Tsur
authors.forename: Harry J
authors.initials: HJ
authors.lastname: Hirsch
authors.forename: Fortu
authors.initials: F
authors.lastname: Benarroch
authors.forename: Talia
authors.initials: T
authors.lastname: Eldar-Geva
mesh_terms: D000293:Adolescent; D000328:Adult; D054304:Anti-Mullerian Hormone / Q000097:blood / Q000378:metabolism; D015331:Cohort Studies; D005260:Female; D005640:Follicle Stimulating Hormone / Q000097:blood / Q000378:metabolism* / Q000502:physiology; D006058:Gonadal Disorders / Q000453:epidemiology / Q000209:etiology* / Q000503:physiopathology; D006066:Gonads / Q000503:physiopathology; D006801:Humans; D007006:Hypogonadism / Q000097:blood / Q000453:epidemiology / Q000209:etiology / Q000503:physiopathology; D007206:Individuality; D007265:Inhibins / Q000097:blood / Q000378:metabolism* / Q000502:physiology; D008297:Male; D010641:Phenotype; D011218:Prader-Willi Syndrome / Q000150:complications* / Q000453:epidemiology / Q000378:metabolism / Q000503:physiopathology; D011627:Puberty / Q000097:blood / Q000378:metabolism / Q000502:physiology; D015398:Signal Transduction / Q000502:physiology; D055815:Young Adult
chemical_list: C422364:inhibin B; D007265:Inhibins; D054304:Anti-Mullerian Hormone; D005640:Follicle Stimulating Hormone