In our hospital, the diagnosis of Turner Syndrome is told to the girl and her parents together. Commonly, parents and their daughters have not heard of the syndrome nor know that it affects ovarian function. One study found that almost all parents (90%) find it difficult to cope with their daughter’s infertility. Published family stories and anecdotes show that parents are devastated by the information that normal ovaries are not present and that their daughter is unlikely to have her own child.

In my practice experience with families, the mother is shocked and often cries in the clinic consults. She thinks of the grandchildren she and her husband will never have. She mourns for her daughter’s future loss often well ahead of the daughter’s own sense of loss. The father is upset but may focus on his daughter’s external appearance ‘as long as she is happy and looks OK’, although he can grieve silently. Girls feel for their mother’s distress and may not wish to distress them further with questions about their own confusion.

At the age of puberty or when HRT is introduced, the doctor explains or re-explains to the girl that the ovaries will be unable to produce egg follicles, and that having babies ‘in the usual way’ is not possible. At the same time the doctor offers the girl and her parents encouraging information about alternative routes to forming a family, for example through in vitro fertilization (IVF) using egg donation or through adoption. One of my medical colleagues emphasizes to her adolescent patients the similarities they have with other young women – namely the ability to carry a pregnancy, give birth and breast feed. She may talk over the pros and cons of using a known or an unknown egg donor even at this early stage, but notes that her patients do not necessarily ask for further details until much later.

For some girls and parents, learning about the fertility status is more hopeful; 2–5 per cent of girls will have spontaneous menses and may have the potential to achieve pregnancy without medical intervention. For some others, infertility is more final; in approximately 6 per cent of girls one of the sex chromosome contains Y material and both gonads develop as rudimentary testes rather than ovaries, and are surgically removed due to the risk of malignancy. Healthcare pharmacy online – best place to order canadian medications.

At approximately age 16–18 years, most endocrinologists refer their patients to our hospital gynaecology clinic – which is staffed entirely by women – for more detailed discussion of fertility status, IVF and continuing review of health and older adolescent concerns. In particular the gynaecologist will gently explore issues over the next few years that may arise around relationships, sexuality and infertility. The gynaecology clinic consults with young women up to 24 years, thus offering a supportive transitional time before referral to the adult specialist or adult hospital clinic.