From the Research
Follow-up and Referral Plan for Klinefelter Syndrome
The follow-up and referral plan for a newly diagnosed boy with Klinefelter (47,XXY) syndrome in primary care should include:
- Regular reviews of puberty and sexual function in adolescents 1, 2, 3
- Monitoring for signs of hypogonadism, such as delayed or incomplete puberty, and consideration of testosterone supplementation if necessary 1, 2, 3, 4
- Screening for comorbidities, such as metabolic syndrome, osteoporosis, and autoimmune diseases 2, 3
- Referral to a specialist, such as an endocrinologist or a geneticist, for further evaluation and management 1, 2, 3
- Provision of psychological support and counseling to address potential social and emotional difficulties 1, 2, 5
- Consideration of fertility preservation options, such as testicular sperm extraction, in late adolescence or early adulthood 1, 2, 3
Key Considerations
- Boys with Klinefelter syndrome are at increased risk of impairment in social cognition and may require support to develop strategies to recognize, process, and express feelings and thoughts 1
- Early institution of speech and language therapy or developmental support is important for boys with Klinefelter syndrome 1
- Testosterone replacement therapy is the mainstay of treatment in hypogonadal patients with Klinefelter syndrome, but randomized trials are needed to determine optimal therapeutic regimens and follow-up schedules 2, 3, 4