A Case Report of 46 XY Partial Gonadal Dysgenesis with Dual Gonadal Tumours 46XY gonadal dysgenesis is known as a disorder of sex development (DSD) that occurs due to abnormality in gonadal development. There is a conflict between one’s genotype, phenotype, and gonadal development, which influences the wide range of presentation and clinical appearance of 46XY females. This was a case of a 46XY female who presented with primary amenorrhea with delayed puberty at the age of 18 years old. She had ambiguous genitalia. Her breast and pubic hair were at Tanner Stage 2. Transabdominal ultrasound found a small uterus with a vagina; however, the gonads were not seen. A magnetic resonance imaging (MRI) showed a 20mm right gonad located extra-pelvis near the right iliac vessels while the 9mm streak left gonad was at the usual location next to the sigmoid colon. All her tumour markers were normal except lactate dehydrogenase (LDH) was elevated. She was given estrogen therapy for pubertal induction and underwent laparoscopy prophylactic bilateral gonadectomy. The intraoperative findings were similar to the MRI findings, and the histopathology examination (HPE) results showed left gonadoblastoma and right dysgerminoma FIGO stage 1A. She continued taking estrogen therapy until she had withdrawal bleeding, and oral progesterone was added. 46XY-DSD has high risk of developing germ cell tumour and requires prophylactic gonadectomy as soon as the diagnosis is established. However, delay in presentation and surgery may affect the outcomes and prognosis.

Introduction: FertiQoL questionnaire was developed and validated in 2011. It has been widely used and translated into many languages to measure QoL among infertile individuals. The use of translated psychometric tools is often subjected to cross-cultural variations. The objective of this study is to assess the psychometric properties of the Malaysian FertiQoL. Methods: A study was conducted among attendees of a public infertility clinic. Demographic details were collected and respondents answered the Malaysian FertiQoL. The questionnaire consists of 34 items. Factor analysis and internal consistency were analysed using SPSS v24. Results: Data from 175 respondents were analysed. Mean age is 32.1 ±3.8 SD with 56.6% female and 43.4% male. KMO index were 0.826 and significant Bartlett’s test for sphericity. For Treatment domain, factor loadings for items T2 and T5 were < 0.32 but for all other items were acceptable between 0.32 – 0.80 with no cross loadings and Cronbach alpha for environment (0.717) and tolerability (0.660). For Core items, Q4, Q6 and Q14 loaded onto different domains and Q19 had poor factor loading. All other items were acceptable. Cronbach alpha for specific domains were emotional (0.788) mind-body (0.829), relational (0.639) and social (0.666). Cronbach alpha for emotional, relational, social improved to 0.857, 0.643 and 0.732 if Q4, Q6 and Q14 were omitted respectively. Conclusion: The study identified six items that affected the psychometric validity of the questionnaire and maybe explained by language or cross-cultural reasons. However, the Malaysian FertiQoL can still be useful to measure QoL in those with infertility.