An X;9 translocation, primary amenorrhea, and hypothalamic dysfunction.
A white girl presented at age 16 yr with delayed puberty and primary amenorrhea. She had 46 chromosomes with a de novo reciprocal X;9 translocation. The normal X chromosome was found to be heterochromatic, thus preserving the function of the translocation portion of the 9. Her total estrogen and serum estradiol levels were low and her serum follicle-stimulating hormone (FSH) and luteinizing hormone (LH) levels were at the lower end of the normal adult range. She had a reasonably good FSH and LH response to GnRH, but an inadequate response to 100 mg of clomiphene daily for 1 wk. This would suggest that the abnormality of function is probably hypothalamic, a hitherto unreported association. De novo translocations between X chromosomes and autosomes are rare and none identical to this case has been described. The breakpoint of the X chromosome was at p22, well outside the "critical region" for female reproductive function. It seems probable that her chromosome abnormality is responsible for her clinical state.
D000293:Adolescent; D000568:Amenorrhea / Q000097:blood / Q000235:genetics*; D002871:Chromosome Banding; D002906:Chromosomes, Human, 6-12 and X; D005260:Female; D006728:Hormones / Q000097:blood; D006801:Humans; D007027:Hypothalamic Diseases / Q000097:blood / Q000235:genetics*; D012730:Sex Chromosomes; D014178:Translocation, Genetic; D014960:X Chromosome
D006728:Hormones