Background: Utilization of a specified questionnaire to measure the Health-related quality of life (HRQoL) in children with hemophilia is unusual especially in a country with resources limited settings. The objective of this study is to analyze the quality of life (QoL) of children with hemophilia A and the clinical factors that affect them. Methods: A cross-sectional study was conducted in September 2021. The participants were children with hemophilia A who were registered at the Indonesian Hemophilia Society Association (IHSA) in Surabaya. Inpatients, children with cognitive impairment, mental health disorder, aged 8 to 16 years old and cannot read, and declined to participate are not included. The questionnaires are using Hemophilia-Specific Quality of Life (Haemo-QoL) which have been validated in Bahasa Indonesia. HRQoL was assessed for 3 age groups (I: 4 to 7; II: 8 to 12; and III: 13 to 16 years). Results: All participants (21 children) were male with a median age of 148 months. More than half (52.4%) of the children had mild hemophilia, followed by moderate hemophilia. The mean total Haemo-QoL score was 38.57 (+9.52). The youngest age group are experienced the highest disturbance in the family dimension, followed by the sports school dimension; children in the second and third age group were impaired in friends and sports school dimension. There was no significant correlation between clinical factors studied and the QoL of children with hemophilia A. Conclusion: The QoL of the youngest age groups must be prioritized due to susceptibility to the family dimension. Appropriate and prompt treatment plays a major role because the treatment of this disease does not depend on the severity of the patient’s clinical factors.

Children with acute leukemia often require platelet transfusions, but the platelet count frequently doesn't reach a satisfactory response, which is known as platelet refractoriness. This study aimed to analyze the risk factors for platelet refractoriness after thrombocyte concentrate transfusion in children with acute leukemia.                         An analytical observational study with a prospective approach, with subjects with acute leukemia who met the inclusion and exclusion criteria, at Dr. Soetomo General Hospital. Analysis with Chi-square test; Odds Ratio (OR), 95% confidence interval, multivariate Backward Wald method with p<0.05. There were 30 subjects, consisting of 19 subjects (63.3%) with platelet refractoriness, 11 subjects (36.7%) did not have platelet refractoriness. The significant differences factors are fever, splenomegaly, and antibiotic use with p values of 0.007; 0.004, and 0.049. There was no difference between gender, sepsis, heavy bleeding, chemotherapy, history of thrombocyte concentrate transfusion, and immature platelet fraction with the incidence of platelet refractoriness (p>0.05). Splenomegaly had a 5.333 times greater probability of platelet refractoriness after thrombocyte concentrate transfusion compared to those without splenomegaly in children with acute leukemia, (p=0.008), (OR 5.333; 95% CI 1.554 – 18.304). Splenomegaly is a risk factor for platelet refractoriness after thrombocyte concentrates transfusion in children with acute leukemia.

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Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder commonly caused by mutation of the CYP21A2 gene, resulting in deficiency of an enzyme required for cortisol synthesis in the adrenal cortex. In 90-95% of cases, the deficient enzyme is 21-hydroxylase (21-OH), with an incidence ranging from 1 in 5,000 to 15,000 live births across various ethnic and racial backgrounds. In classical 21-OH deficiency (21-OHD) CAH, excessive androgen exposure in the fetus results in virilization at birth.1 The management of ambiguous genitalia in children with CAH presents a unique and ethically challenging decision-making dilemma for the medical team. Insensitive and poorly informed statements made in the delivery room may cause long-term psychological problems for the families. It is important to refrain from assigning gender until sufficient diagnostic information can be gathered. Parents, as guardians, and the supporting medical team must make decisions on behalf of the child, with the goal of enabling the child to grow into a healthy and happy adult with his or her assigned gender.2,3 We report a case of a child with CAH, focusing on the ethical challenges in management of ambiguous genitalia.