The effect of leukodystrophies on sexual maturity and function is often overlooked, with opportunities for treatment of these symptoms missed due to stigma and embarrassment around discussing it. Some conditions cause development of sexual functions and onset of puberty to be slow or absent.
Some conditions cause development of sexual functions and onset of puberty to be delayed or absent.
For girls, delayed puberty is diagnosed when breasts development has not started by age 13, or periods have not started by age 15, or periods have not started by 4 years after initial breast growth.
For boys, delayed puberty is diagnosed when enlargement of the testicles has not started by age 14, or pubic hair has not appeared by age 15, or it is taking over 4 years to complete adult genital development.
Delayed puberty can be treated with medication if it is causing distress or other problems.
Hypogonadism (sex hormone deficiency)
In some conditions the testes or ovaries may not produce the normal amounts of male or female sex hormones (e.g. testosterone or oestrogen). This is called hypogonadism. It can be present in childhood or can start in adulthood. Hypogonadism can often be treated with hormone-based medications.
All of the conditions listed above could cause infertility, but CLCN2-related leukodystrophy will have this effect only on males. The risk of infertility with Vanishing White Matter Disease is primarily for females.
Treatments for some leukodystrophies can affect fertility. Stem cell transplants, which can be used to treat those in the early stages of cerebral Adrenoleukodystrophy and Metachromatic Leukodystrophy, will most likely leave the patient infertile. In this case, where loss of fertility is predictable, reproductive options can be discussed in advance. For males who have gone through puberty, it may be possible to freeze sperm for later use.
Men or women with fertility problems should speak to a reproductive specialist about options for having children. These range from assisted reproduction techniques like in vitro fertilisation (IVF), to adoption or surrogacy. People with leukodystrophies may wish to speak to a genetic counsellor before trying to conceive. The genetic counsellor can explain the likelihood of the condition being passed on to any children, and about options for ensuring that future children are free of the leukodystrophy gene.
Fertility problems can have major psychological consequences, both for those coping with leukodystrophy and their partners. See our page on mental health support if you need help with this.
Erectile dysfunction can occur in any neurological disorder, and may be due to physical and/or psychological factors. For those with a leukodystrophy, erectile dysfunction should prompt an endocrine review for hypogonadism.
Whether or not a person has a leukodystrophy, treatment for erectile dysfunction is much the same, so advice should be sought from a GP. If this is not successful, a local urology or neuro-urology referral may be helpful, and support is often also available from local hospital urology or gynaecology departments.