CASE PRESENTATION: Five patients with female phenotypes presented in early adulthood with primary amenorrhoea with varying degrees of puberty. One was tall with breast development. Another was very short with clitoromegaly and multiple co-morbidities. The other three had no secondary sexual characteristics. They were examined, after which hormonal profile, karyotyping, ultrasound examination and magnetic resonance imaging were done to assess the site of gonads. Gonadectomy was performed once their 46 XY karyotype was confirmed. Results of histopathological examination of their gonads ranged from dysgenetic gonads to having testicular tissues and malignancy.
CONCLUSION: Female patients with 46 XY karyotypes require prophylactic gonadectomy performed at different timings depending on diagnosis due to the malignancy risk. Pre-operative assessment is essential to locate the gonads prior to surgery.
OBJECTIVE: This paper outlines the protocol for a study to determine the association of vitamin D status and VDR sequence variants among Malaysian pregnant women with HDP.
METHODS: This prospective study consists of two phases. The first phase is a cross-sectional study that will entail gathering medical records, a questionnaire survey, and laboratory testing for vitamin D status, with a planned recruitment of 414 pregnant women. The questionnaire will be utilized to assess the risk factors for vitamin D deficiency. The vitamin D status will be obtained from measurement of the vitamin D (25-hydroxyvitamin D3) level in the blood. The second phase is a case-control study involving a Malay ethnic cohort with vitamin D deficiency. Participants will be divided into two groups with and without HDP (n=150 per group). Genomic DNA will be extracted from the peripheral blood monocytes of participants using the Qiagen DNA blood kit, and VDR sequence variants will be determined using polymerase chain reaction-high-resolution melting (PCR-HRM) analysis. Sanger sequencing will then be used to sequence randomly selected samples corresponding to each identified variant to validate our PCR-HRM results. The VDR genotype and mutation frequencies of BsmI, ApaI, TaqI, and FokI will be statistically analyzed to evaluate their relationships with developing HDP.
RESULTS: As of December 2023, 340 subjects have been recruited for the phase 1 study, 63% of whom were determined to have vitamin D deficiency. In the phase 2 study, 50 and 22 subjects have been recruited from the control and case groups, respectively. Recruitment is expected to be completed by March 2024 and all analyses should be completed by August 2024.
CONCLUSIONS: The outcome of the study will identify the nonmodifiable genetic components contributing to developing vitamin D deficiency leading to HDP. This will in turn enable gaining a better understanding of the contribution of genetic variability to the development of HDP, thus providing more evidence for a need of customized vitamin D supplementation during pregnancy according to the individual variability in the response to vitamin D intake.
TRIAL REGISTRATION: ClinicalTrials.gov NCT05659173; https://clinicaltrials.gov/study/NCT05659173.
INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/53722.
METHODS AND ANALYSIS: The study will be modelled according to the Capability, Opportunity, Motivation and Behaviour and Behaviour Change Wheel techniques, and use the DoTTI framework to identify needs, solutions and testing of a preliminary mobile app, respectively. In phase 1 (design and development), a focus group discussion (FGDs) of 5-8 individuals will be conducted with an estimated 60 women with GDM and 40 HCPs (doctors, dietitians and nurses). Synthesised data from the FGDs will then be combined with content from an expert committee to inform the development of the mobile app. In phase 2 (testing of early iterations), a preview of the mobile app will undergo alpha testing among the team members and the app developers, and beta testing among 30 women with GDM or with a history of GDM, and 15 HCPs using semi-structured interviews. The outcome will enable us to optimise an intervention using the mobile app as a diabetes prevention intervention which will then be evaluated in a randomised controlled trial.
ETHICS AND DISSEMINATION: The project has been approved by the Malaysia Research Ethics Committee. Informed consent will be obtained from all participants. Outcomes will be presented at both local and international conferences and submitted for publications in peer-reviewed journals.
METHOD: In this prospective cohort study, pregnant women between 16 and 24 weeks who fulfilled the criteria were recruited. Women with history of preterm birth were excluded. Demographic and clinical data (age, BMI, ethnicity, education level and parity) were obtained. Cervical length was measured using transvaginal scan. Patients were then followed up till delivery to determine their delivery gestation and outcome of delivery.
RESULTS: Out of 153 women who participated in this study, 146 women had cervical length of more than 30 mm, six had cervical length between 25 mm and 30 mm and one had cervical length of 24 mm. There were nine (9) cases of sPTB, with all of them being late preterm with normal midtrimester cervical length. Almost half of them (44%) were overweight/obese. A significant association was found between age, cervical length, and parity compared to BMI. Nevertheless, no significant association was seen between the BMI and risk of sPTB.
CONCLUSION: This study demonstrates a higher BMI is associated with longer cervical length, but it is not necessarily protective against sPTB. Hence, we concluded there is a limited role in cervical length screening among low-risk women regardless of their BMI in predicting sPTB.
OBJECTIVE: The protocol describes a randomized controlled trial (RCT) to test the feasibility of undertaking a definitive trial of a diabetes prevention intervention, including a smartphone app and group support. Secondary aims are to summarize anthropometric, biomedical, psychological, and lifestyle outcomes overall and by allocation group, and to undertake a process evaluation.
METHODS: This is a two-arm parallel feasibility RCT. A total of 60 Malaysian women with GDM will be randomized in the antenatal period to receive the intervention or standard care until 12 months post partum. The intervention is a diabetes prevention intervention delivered via a smartphone app developed based on the Information-Motivation-Behavioral Skills model of behavior change and group support using motivational interviewing. The intervention provides women with tailored information and support to encourage weight loss through adapted dietary intake and physical activity. Women in the control arm will receive standard care. The Malaysian Ministry of Health's Medical Research and Ethics Committee has approved the trial (NMRR-21-1667-60212).
RESULTS: Recruitment and enrollment began in February 2022. Future outcomes will be published in peer-reviewed health-related research journals and presented at national, regional, or state professional meetings and conferences. This publication is based on protocol version 2, January 19, 2022.
CONCLUSIONS: To our knowledge, this will be the first study in Malaysia that aims to determine the feasibility of a digital intervention in T2D prevention among women with GDM. Findings from this feasibility study will inform the design of a full-scale RCT in the future.
TRIAL REGISTRATION: ClinicalTrials.gov NCT05204706; https://clinicaltrials.gov/ct2/show/NCT05204706.
INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): PRR1-10.2196/37288.