Primary amenorrhoea due to ovarian dysgenesis: a previously undescribed chromosome 12 abnormality.
This case describes for the first time a de novo chromosomal abnormality (46, XX, inv dup del(12)(qter-p13.3::p13.3-p12.3:)dn.ish inv dup del(12)(TEL-ETV6++) which produced the phenotype of a female with primary ovarian failure and subsequent osteopenia in early adult life. This warranted treatment with oestrogen replacement therapy and close supportive monitoring.
Department of Diabetes and Endocrinology, Royal Sussex County Hospital, Brighton, East Sussex, UK. drpaul.grant@doctors.org.uk
Paul
P
Grant
David
D
Lipscomb
D000568:Amenorrhea / Q000209:etiology*; D002869:Chromosome Aberrations; D002881:Chromosomes, Human, Pair 12; D005260:Female; D006059:Gonadal Dysgenesis / Q000150:complications* / Q000235:genetics*; D006801:Humans; D010053:Ovary / Q000002:abnormalities*; D055815:Young Adult