Homozygous missense variants in BMPR15 can result in primary ovarian insufficiency.

RESEARCH QUESTION: Does a genetic condition underlie the diagnosis of primary ovarian insufficiency (POI) in a 13-year-old girl with primary amenorrhoea? DESIGN: A case report of a next-generation sequencing panel of 24 genes associated with syndromal and non-syndromal POI was conducted. RESULTS: A homozygous missense variant c.1076C>T, p.(Pro359Leu) in BMP15 was identified. CONCLUSIONS: The biallelic variant c.1076C >T, p.(Pro359Leu) in BMP15 is associated with primary ovarian failure.

Outcomes of women referred for sterilisation.

OBJECTIVE: To evaluate whether women referred to a gynaecology clinic requesting sterilisation were receiving appropriate counselling about sterilisation and other forms of long-term contraception, and to determine the proportion of women who ultimately underwent sterilisation. METHODS: A retrospective audit of 100 women referred requesting sterilisation. RESULTS: 15% of women referred did not attend the clinic, 54% had sterilisation and 29% ultimately chose an alternative method. Alternative forms of contraception discussed were levonorgestrel-releasing intrauterine system (69%), vasectomy (34%) and subdermal progestogen implants (21%). At the clinic 70 (82%) women chose sterilisation; however, 15 (21%) of these women cancelled the operation. CONCLUSIONS: Almost half of the women referred for sterilisation did not proceed with it, suggesting that there was insufficient counselling about sterilisation and alternative long-term contraception before referral to the gynaecology clinic and also within the clinic itself.