ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Endocrine Abstracts (2010) 24 S16

Sex hormone replacement and fertility for adolescents and young adults: who needs it and how should it be done?

Margaret Zacharin

Department of Endocrinology, Royal Children’s Hospital, Parkville, Victoria 3052, Australia.

Major changes in paediatric and adult medical practice have been seen over recent decades with increased prevalence of and longevity in chronic diseases, a marked increase in organ transplantation, rapid increases in recognition of new genetic disorders associated with altered gonadal function. Along with these changes has come recognition of the pivotal importance of adolescent bone mass accrual, to decrease the impact of adult bone loss for those who have a chronic medical condition.

These changes have brought new challenges for management strategies and planning of fertility options for affected young men and women. Novel treatments, such as bisphosphonate use have changed the face of some paediatric bone disorders, but may impact on possible future risks for pregnancies in affected individuals. Ethical issues surrounding harvesting of gonadal tissue from minors without proper informed consent, the possibility of removal of gonadal tissue rendering a functional gonad non-functional and confronting issues of donation and ownership of chromosomal material, all impinge on current practice management.

Normal timing of entry into puberty and progress of puberty is essential to optimize linear growth and appropriate feminization or virilization, as well as having a major effect on bone size and mass, with 40–50% of total bone mass for life accumulated during puberty.

Insults to the gonadal axis, either primary or secondary, may result in absent, delayed or arrested puberty but hypogonadism is often only one manifestation of a complex disorder. Holistic care will optimise outcome. This presentation will outline management strategies for different types of male and female hypogonadism, with particular attention to optimising timing and type of hormone replacement treatment in specific circumstances of chronic disease, after cranial radiation, organ transplantation, in disability and in specific disorders of hypogonadism such as Turner syndrome and hypogonadotrophic hypogonadism.

New treatment options incur potential risks and raise new ethical issues. Risks for aortic dissection in Turner Syndrome during pregnancy and the use of cardiac MRI for evaluation is now mandatory. Use of ICSI provides new hope for fertility in Klinefelter syndrome. Adolescent use of gonadotrophins in hypothalamic hypogonadism improves adult fertility management in males.

Management outcomes should aim to strike a balance between the achievement of height and adult appearance, while recognizing limitations imposed by the nature of the underlying condition. Awareness of a window of opportunity for best possible outcome can only be achieved through regular surveillance together with a comprehensive knowledge of conditions affecting patients. We should have the capacity to pass our patients to adult care with adequate advice regarding future risks, fertility prospects together with an understanding of the complexity and evolution of their condition.

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