Dr Yasmin Trinh1, Dr Christina Jang1,2
1Royal Brisbane and Women’s Hospital, Herston, Australia, 2Medical School, University of Queensland, St Lucia, Australia
Biography:
Dr Yasmin Trinh is a second year Endocrinology Advanced Trainee at the Royal Brisbane and Women’s Hospital in Queensland. She has a particular interest in women’s health and metabolic bone conditions.
Abstract:
A 28-year-old woman JM was referred for evaluation of secondary amenorrhoea. She was attempting pregnancy and had been amenorrhoeic for 2 years. Gonadal hormones were consistent with premature ovarian insufficiency (POI). She was screened for causes of POI.
Six weeks later, blood tests showed FSH 14 IU/L, LH 29 IU/L, E2 708pmol/L. She recently had a period. Screening for Fragile X premutation revealed the presence of both 31 and 61 CGG repeats. Ms JM was referred to Genetics Health. She was seen by gynaecology and advised her chances of a spontaneous pregnancy was <1%. Ms JM said she no longer wished to conceive in light of the new findings. She was given a prescription for the oral contraceptive pill.
Two months later, Ms JM was referred back urgently with a positive pregnancy test.
JM and her partner were seen by the genetics service and were referred for amniocentesis.
FMR1 premutations are found in 1 to 5% of women with sporadic POI. Women with FXPOI are reported to have a 12% chance of spontaneous pregnancy. This case highlights the importance of preconception counselling, striking a balance between realistic expectations and need for contraception where genetic mutations have implications for the pregnancy.