Turner syndrome and its profile: A single centre Malaysia study

• Main Authors: Abu Ishak, Nurkhairulnisa, Abdul Ghani, Nur Azurah, Zainuddin, Ani Amelia, Ali, Anizah
• Format: Conference or Workshop Item
• Language: English
• Published: Malaysian Medical Association 2021
• Subjects: RG133.7 Ovulation induction
• Online Access: http://irep.iium.edu.my/101549/13/101549_Turner%20syndrome%20and%20its%20profile%20A%20single%20centre%20Malaysia%20study.pdf; http://irep.iium.edu.my/101549/; https://www.e-mjm.org/2021/v76s3/index.html
• Institution: Universiti Islam Antarabangsa Malaysia

Nurkhairulnisa Abu Ishak1, Nur Azurah Abdul Ghani2, Anizah Ali2, Ani Amelia Zainuddin2 1Department of Obstetrics and Gynaecology, Kulliyyah of Medicine, International Islamic University of Malaysia, 2Department of Obstetrics and Gynaecology, Universiti Kebangsaan Malaysia Medical Centre ABSTRACT Introduction/Objectives: Early diagnosis of girls with Turner Syndrome (TS) facilitates management especially regarding puberty induction. The aim of this study was to determine the age and presenting complaint at the time of presentation to Paediatrics and Adolescent Gynaecology (PAG) Unit and to identify the karyotype and puberty induction treatment of girls with TS. Methods: Retrospective data was retrieved from medical records of 27 young women with TS aged 17 to 48-year-old within 2015 to 2019. The data include age at diagnosis, karyotype analysis, presenting complaints with its associated problems, hormonal profiles and puberty induction treatment. Results: The mean age of diagnosis was 17.6 (±7.8) years with 45X (48.1%) as the main karyotype diagnosed. Primary amenorrhea (81.5%) was the commonest presenting complaint in PAG clinic. The associated medical problem detected in this study population was low bone mass (70.4%), diabetes (7.4%), heart problem (3.7%) and hearing problem (3.7%). Conjugated Equine Estrogen (CEE) (55.6%) was commonly used for puberty induction. Estrogen treatment dose that mostly induced bleeding was CEE 1.25 mg (33.3%) and the duration of treatment required to induce bleeding was 13 (±15.8) months. Conclusion: Majority of young women with TS were diagnosed in PAG Unit late. Primary amenorrhea triggered evaluation for most patients and most young women require puberty induction for 1-2 years to induce vaginal bleeding. Efforts to improve the early diagnosis of TS and early age-appropriate pubertal induction remain important management targets to improve the quality of life in young women with TS.