Brief clinical report: 46,XX, del (18p) with amenorrhea, hypothyroidism, and ptosis.
A 17-year-old girl was initially evaluated because of primary amenorrhea and lack of sexual development. Chromosome studies demonstrated the presence of 46,XX, del (18p). The patient is now 21 years old and still has not menstruated. This is the first reported case of 46,XX, del (18p) presenting with primary amenorrhea. The case is of additional interest in that ptosis, a common finding in this syndrome, was not present at birth but was first noted at age 9.
D000328:Adult; D000568:Amenorrhea / Q000235:genetics*; D001763:Blepharoptosis / Q000235:genetics*; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D025063:Chromosome Disorders; D002902:Chromosomes, Human, 16-18; D005260:Female; D006801:Humans; D007037:Hypothyroidism / Q000188:drug therapy / Q000235:genetics*; D012730:Sex Chromosomes; D013963:Thyroid Hormones / Q000627:therapeutic use
D013963:Thyroid Hormones