Session: SUN 176-202-Male Reproductive Endocrinology and Male Reproductive Tract (posters)
Bench to Bedside
Poster Board SUN 180
Klinefelter syndrome (KS) is the most prevalent (1:660) male chromosomal disorder, with variable phenotypes including a range of skeletal anomalies and varying degrees of testicular insufficiency. Only about 10% of cases are diagnosed in the pediatric setting. For these patients, transition from pediatric to adult care is crucial and structured transition programs may help facilitate continuity of care and thus reduce negative psychological and medical sequelae. However, little is known about the experience of adolescents with KS during this transition period.
We conducted a retrospective, descriptive follow-up pilot study of young adults with KS historically seen in the endocrine service of a pediatric tertiary referral hospital (2000-2014). Data concerning continuity of care, medical follow-up and health-related quality of life (QoL) using a previously validated questionnaire (WHO-BREF) were assessed. Data were used to better understand the needs of patients with KS during transition and to guide the development of a structured transition program for adolescent males with KS.
In total, 7/14 (50%) of subjects responded to the follow up questionnaire. These emerging adults ranged in age from 16.1 – 27.2 years (median age: 19.7 years). Four (57%) were followed by a specialized adult endocrinologist. 30% did not seek regular medical advice, 50% twice a year, 20% > 3/year. Only 40% had ongoing treatment. The ideal time of transition was reported as 16-17 years in 40% of the patients, while 30% preferred a later transition at 18-19 years. At transition, 50% prefer to see the adult specialist alone. In terms of health-related QoL, both physical (81/100) and psychological (88/100) aspects were quite good, yet social relations were reported as problematic (69/100).
Discussion and Conclusions
These limited pilot data suggest that young adults with KS often have gaps and cracks in care during the transition period. Problems with adherence and lack of continuity of care pose threats for men with KS including hypogonadism, poor bone health and metabolic complications such as insulin resistance and the metabolic syndrome. A structured, patient-centered, multidisciplinary transition model involving pediatric and adult endocrinology, urology, and psychiatry may help facilitate comprehensive, coordinated care for patients with KS.
Nothing to Disclose: MH, AD, LV, FP, SS, EE, SP, NP
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