Recruiting Adolescent and Young Adult Cancer Survivors for Patient-Reported Outcome Research: Experiences and Sample Characteristics of the SURVAYA Study.

BACKGROUND: Participation of Adolescents and Young Adults with cancer (AYAs: 18-39 years at time of diagnosis) in patient-reported outcome studies is warranted given the limited knowledge of (long-term) physical and psychosocial health outcomes. We examined the representativeness of AYAs participating in the study, to observe the impact of various invitation methods on response rates and reasons for non-participation. METHODS: A population-based, cross-sectional cohort study was performed among long-term (5-20 years) AYA cancer survivors. All participants were invited using various methods to fill in a questionnaire on their health outcomes, including enclosing a paper version of the questionnaire, and sending a reminder. Those who did not respond received a postcard in which they were asked to provide a reason for non-participation. RESULTS: In total, 4.010 AYAs (response 36%) participated. Females, AYAs with a higher socio-economic status (SES), diagnosed more than 10 years ago, diagnosed with a central nervous system tumor, sarcoma, a lymphoid malignancy, stage III, or treated with systemic chemotherapy were more likely to participate. Including a paper questionnaire increased the response rate by 5% and sending a reminder by 13%. AYAs who did not participate were either not interested (47%) or did want to be reminded of their cancer (31%). CONCLUSIONS: Study participation was significantly lower among specific subgroups of AYA cancer survivors. Higher response rates were achieved when a paper questionnaire was included, and reminders were sent. To increase representativeness of future AYA study samples, recruitment strategies could focus on integrating patient-reported outcomes in clinical practice and involving AYA patients to promote participation in research.

Cetrorelix suppression test in the diagnostic work-up of severe hyperandrogenism in adolescence.

UNLABELLED: Conventional diagnostic procedures failed to provide a definitive diagnosis in a 15 year-old girl presenting with severe hirsutism, oligomenorrhea, and markedly elevated serum testosterone levels. To examine whether androgen overproduction was luteinizing hormone (LH) dependent and thus likely of ovarian origin we performed a new test to suppress LH secretion based on the use of Cetrorelix, a short-acting gonadotropin-releasing hormone antagonist. Subcutaneous administration of Cetrorelix 250 microg once daily for 5 days resulted in partial suppression of serum LH and testosterone. The same dose administered twice daily for 5 days almost completely suppressed serum LH and testosterone, thereby supporting a diagnosis of ovarian androgen excess. This observation was confirmed by a positive human chorionic gonadotropin stimulation test and an MRI showing bilateral polycystic ovaries. CONCLUSION: The Cetrorelix suppression test appears to be a promising instrument to help solve the differential diagnosis of severe hyperandrogenism in adolescence.

Expanding phenotype of XNP mutations: mild to moderate mental retardation.

Mutations in the XNP gene have been reported in alpha thalassemia/mental retardation (MR) syndrome (ATR-X) and other severe X-linked MR conditions with facial dysmorphisms. In this report, we describe a missense mutation in exon 18 in a family with borderline to moderate MR. Like other disorders associated with an XNP mutation, skewed X-inactivation was found in all carrier females in this family. Only retrospective examination revealed childhood facial hypotonia and HbH inclusions in some of the affected males. These results expand the spectrum of clinical phenotypes known to be due to mutations in the XNP gene, and indicate that XNP mutation analysis should not be restricted to patients with severe MR and characteristic facial features.