RESEARCH PROTOCOL 1. Title of Study Profiling the Clinical and Laboratory Characteristics of Paediatric Disorders of Sex Development --- 2. Principal Investigator Lwethu Dlamini Department of [Department Name] Institution: [Institution Name] Email: [Insert Email] Supervisor: [Insert Supervisor Name] --- 3. Background and Rationale Disorders of Sex Development (DSD) refer to a group of congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. DSDs are clinically heterogeneous and often require multidisciplinary assessment including endocrinology, urology, genetics, and psychosocial support. Early and accurate profiling of clinical and laboratory features is essential for: • Correct diagnosis • Guiding gender assignment decisions • Identifying underlying genetic or hormonal abnormalities • Planning long‑term treatment, follow‑up, and family counselling However, in many paediatric centres—particularly in low‑ and middle‑income settings—there is limited local data documenting the range, frequency, and patterns of clinical and laboratory characteristics. This study aims to fill this gap by systematically profiling paediatric DSD cases to inform improved diagnostic protocols and management pathways. --- 4. Study Aim To describe and profile the clinical, hormonal, genetic, and imaging characteristics of children diagnosed with Disorders of Sex Development at [Name of Hospital/Institution]. --- 5. Objectives Primary Objective • To identify and describe the clinical and laboratory features among paediatric patients diagnosed with DSD. Secondary Objectives 1. To classify DSD cases according to the 2006 Chicago Consensus categories. 2. To determine the most common presenting features in each diagnostic category. 3. To assess the correlation between clinical presentation and laboratory/genetic findings. 4. To identify gaps in current diagnostic workup and propose an improved diagnostic approach. --- 6. Study Design This will be a retrospective descriptive cross‑sectional study involving review of medical records of children diagnosed with DSD from January [Year] to December [Year] at [Name of Institution]. --- 7. Study Setting The study will be conducted at the Paediatric Endocrinology Unit / Genetics Unit / Paediatric Surgery Department at [Hospital Name], a tertiary referral centre serving diverse patient populations. --- 8. Study Population Inclusion Criteria • Children aged 0–18 years diagnosed with any form of DSD. • Patients with documentation containing at least one of: • Clinical features consistent with DSD • Hormonal/endocrine investigations • Genetic testing results • Imaging results (US, MRI) Exclusion Criteria • Patients with incomplete records lacking essential clinical or laboratory data. • Cases where diagnosis was later ruled out. --- 9. Sample Size All paediatric DSD cases meeting inclusion criteria during the study period will be included (estimated n = [insert estimate]). --- 10. Data Collection Data will be extracted from electronic and paper medical files using a structured data collection tool. Variables to be Collected A. Demographic Variables • Age at presentation • Sex assigned at birth • Referral pathway B. Clinical Characteristics • External genital features • Presence of ambiguous genitalia • Associated congenital anomalies • Pubertal development (if applicable) • Family history C. Laboratory Investigations • Hormonal profiles: • 17‑hydroxyprogesterone • Testosterone • LH, FSH • Anti‑Müllerian hormone (AMH) • Cortisol levels • Karyotype results (e.g., 46,XX; 46,XY; mosaic patterns) • Additional endocrine tests depending on case pathways D. Imaging Findings • Pelvic/abdominal ultrasound • Genital ultrasound • MRI findings where available E. Final Diagnosis and Management • Chicago Consensus classification • Gender assignment decisions • Surgical interventions (if any) • Endocrine management and follow‑up plans --- 11. Data Management and Analysis Data will be entered into Excel / REDCap and analysed using SPSS / Stata / R. Analysis Plan • Descriptive statistics (mean, median, frequency, percentages) • Cross‑tabulation of: • Clinical presentation vs karyotype • Hormonal findings vs final diagnosis • Identification of common diagnostic patterns • Thematic analysis of unusual or rare cases All data will be anonymised before analysis. --- 12. Ethical Considerations • Ethics approval will be obtained from the [Institutional Review Board / Human Research Ethics Committee]. • Retrospective review; therefore patient consent waiver will be requested. • No identifying information will be collected (codes will substitute patient names). • Data will be stored securely on password‑protected institutional servers. • Study involves vulnerable population (children), so additional care will be taken regarding confidentiality and sensitivity. --- 13. Risks and Benefits Risks • No direct risks to participants due to retrospective design. • Risk of confidentiality breach mitigated through strict data protection protocols. Benefits • Improved understanding of local DSD patterns. • Potential refinement of diagnostic pathways. • Contribution to resource planning for multidisciplinary DSD care. --- 14. Dissemination Plan Findings will be disseminated through: • Peer‑reviewed journal publications • Conference presentations • Internal hospital clinical review meetings • Policy brief for paediatric endocrine services