Modern methods of induction of ovulation and assisted conception techniques have offered renewed hope for many infertile couples, including those with genetic causes of infertility. Turner's syndrome is, of course, characterised by primary ovarian failure and although spontaneous ovulation and conceptions have occasionally been reported, (usually in mosaic forms of Turner's) these events are rare and unpredictable. Attempts to induce ovulation are futile. The most realistic chance of pregnancy comes from egg donation. The results of egg donation are very good at the best centres but it is difficult to find such programmes in NHS clinics and, whether private or NHS, there is a shortage of donors. For these reasons, among others, adoption remains an important option to consider.
Both male and female patients with infertility due to Kallmann's syndrome are amenable to endocrine treatment. Treatment with pulsatile gonadotrophin-releasing hormone (GnRH) is the therapy of first choice in women with GnRH deficiency. It can restore normal fertility. The results of GnRH treatment of men with Kallmann's have been more disappointing and gonadotrophin therapy is probably more practical and just as effective. Nevertheless, some men remain azoospermic despite many months of treatment. Although there have been a few reports of pregnancies following testicular aspiration of immature sperm (and subsequent intracytoplasmic sperm injection) in hypogonadotrophic men, the chance of success by this method must be regarded as very low. Donor insemination remains the treatment of first choice in such cases provided that this is acceptable to the couple.
Whatever the choice of treatment (and especially if the couple decide not to have treatment), it is important to provide information, advice, emotional support and, if necessary formal counselling.
03 - 04 Dec 2001
Society for Endocrinology