PPM - Klinefelter Syndrome (KS)-Checklist

Checklist

Pdf Summary

The document provides a checklist of items to be reviewed and documented during patient visits for individuals with Klinefelter Syndrome (KS). It includes the review and documentation of medical history, developmental and behavioral history, and results of genetic testing. The document recommends documenting the clinical phenotype, as well as height, weight, and findings on external genitalia and pubertal changes at each visit. Evaluation of mammary glands for gynecomastia/masses in adolescents and adults should be documented annually. In cases of cryptorchidism, referral to a urologist should be made if it persists beyond one year. The document emphasizes referring patients to a pediatric endocrinologist for evaluation of endocrine status and assessment of bone age. Additionally, assessment of vitamin D and calcium levels should be documented. An assessment of fracture risk, using DEXA analysis, should be conducted at the lumbar and femoral levels during the first visit for adults with KS. If hypogonadism is diagnosed, referral to an endocrinologist for consideration of androgen supplementation should be documented. The document highlights the importance of discussing nutrition, exercise, and potential learning disabilities. Psychological support, social training, and referral to support groups should also be documented. Counseling regarding fertility issues and options for semen collection and cryopreservation should be discussed and documented. Increased risks of male breast cancer, cardiovascular disease, autoimmune disease, and metabolic syndrome should be addressed during visits, and annual screenings for fasting glucose, HgbA1c, and lipid profile are recommended for adults. Thromboprophylaxis prior to long flights or other risk exposure should be discussed and documented. Finally, appropriate literature on KS should be offered to the patient and/or their family, and this should be documented.

Keywords

Klinefelter Syndrome checklist

patient visits

medical history

developmental history

genetic testing

clinical phenotype

fracture risk assessment

hypogonadism diagnosis

fertility issues

screenings