Little is known about disclosure of diagnosis to males with Klinefelter syndrome (KS) diagnosed before birth or during childhood, especially in Asian context. Insufficient preparation for disclosure communication could lead to the child's depression, anxiety, or disrupted self-esteem. This is an interventional and qualitative interview study with a brief self-reported survey. The study consists of three phases. In phase I, adults with KS were asked about their experiences and viewpoints toward KS disclosure and diagnosis through individual interviews. In phase II, unaffected adolescent males were given information about KS and then asked to give hypothetical answers to a questionnaire followed by a group interview, as if they had KS. In phase III, parents of children with KS were asked to complete a questionnaire followed by a group interview which included a discussion about their disclosure plans and their concerns. The parents were provided information obtained from adults with KS and unaffected adolescent males, and were then interviewed again as a group. We found that the most hurtful issues were discovering their infertility from KS and late disclosure. From the perspective of unaffected adolescent males, early disclosure in early or mid-teens in a neutral, supportive, and relaxed manner, along with information on benefits of hormonal treatment, the assurance of biological sex as "male," and avoidance of some sensitive words are strongly recommended, as a way to promote self-confidence and positive coping with the diagnosis. After intervention, the parents reported more confidence and less anxiety about disclosing the diagnosis to their children, and indicated that they would disclose KS at an earlier age. For unaffected adolescent males, though it is a hypothetical scenario and their reaction may differ from affected adolescents, unaffected adolescent males' viewpoints on how they might react are more or less representative of cultural changes for the new generation, especially in the Asian context. In addition, their viewpoints influenced parents' decision and genetic counseling plans for the diagnosis disclosure of KS to their children. We propose a preliminary guideline for KS diagnosis disclosure.

Background Many international medical organizations recommend vitamin D supplementation for infants, especially exclusively breastfed infants. In Thailand, however, data regarding the vitamin D status in Thai infants are lacking. Such data would help to support physician decisions and guide medical practice. Methods Full-term, exclusively breastfed infants were randomized into two groups at 2 months of age to continue exclusive breastfeeding either without vitamin D supplementation (control group, n = 44) or with vitamin D3 supplementation at 400 IU/day (intervention group, n = 43) until 6 months of age. At 6 months, the serum vitamin D (25OHD) of the infants and their mothers, serum bone marker, and infants’ growth parameters were compared between the two groups. Results The infants’ serum 25OHD concentration was lower in the control group than intervention group (20.57 ± 12.66 vs. 46.01 ± 16.42 ng/mL, p < 0.01). More infants had vitamin D sufficiency (25OHD of > 20 ng/mL) in the intervention group than control group (93.0% vs. 43.2%, p < 0.01). There were no significant differences in the maternal 25OHD concentrations between the control and intervention groups (25.08 ± 7.75 vs. 23.75 ± 7.64 ng/mL, p = 0.42). Serum calcium, phosphorus, intact parathyroid hormone, alkaline phosphatase, and infants’ growth parameters were comparable between the two groups. After adjustment for the confounding factors, 25OHD concentration in the intervention group was 25.66 ng/mL higher than the control group (95% confidence interval, 19.07–32.25; p < 0.001). Vitamin D supplement contributed to an 88.7% decrease in the prevalence of vitamin D insufficiency/deficiency (relative risk, 0.11; 95% confidence interval, 0.04–0.35; p < 0.01). Conclusions Most full-term, exclusively breastfed Thai infants have serum vitamin D concentration below sufficiency level at 6 months of age. However, vitamin D supplementation (400 IU/day) improves their vitamin D status and prevents vitamin D deficiency. Trial registration The study was pre-registered in the Thai Clinical Trials Registry (TCTR20190622001) on 22/06/2019.

The article “Perspectives of adults with Klinefelter syndrome, unaffected adolescent males, and parents of affected children toward diagnosis disclosure: a Thai experience”, written by Sukrit Suwannachat, Duangrurdee Wattanasirichaigoon, Jiraporn Arunakul, Vilawan Chirdkiatgumchai and Thipwimol Tim-Aroon, was originally published electronically on the publisher’s internet portal (currently SpringerLink) on September 2019 without open access.