Turner syndrome and its profile: A single centre Malaysia study

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

The effect of metformin on the metabolic parameters in polycystic ovarian syndrome.

A total of 40 women with PCOS were recruited in this study. Baseline characteristics (menstrual history, hirsutism scoring (Ferriman Gallwey score), weight, body mass index (BMI), serum luteinizing hormone and follicule-stimulating hormone (LH:FSH) ratio, fasting glucose and fasting lipid profiles were assessed at pre and 3-months post metformin therapy

Oestrogen-induced epithelial-mesenchymal transition (EMT) in endometriosis: Aetiology of vaginal agenesis in Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome

Endometriosis occurs when endometrial-like tissue forms and grows outside the uterus due to oestrogen-induced epithelial-mesenchymal transition in the female reproductive tract. Factors that suppress this event could become potential therapeutic agents against disease occurrence and progression. However, an overview of these studies is still lacking. This review assessed the impact of a number factors on oestrogen-mediated epithelial-mesenchymal transition in the emergence of several diseases in the female reproductive tract, primarily endometriosis. The association between epithelial-mesenchymal transition and Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome was also investigated. Oestrogen, Wnt4 and epithelial-mesenchymal transition were chosen as keywords in Scopus, PubMed, and Web of Science searches performed on 28th June 2021. Study selection was refined to cancer-irrelevant, English, original articles published between years 2011–2021. The full-text assessment was carried out for topic-related articles after title and abstract screening. Included studies were summarised and assessed for their risk of bias using the Office of Health Assessment and Translation tool. In this review, 10 articles investigating oestrogen and epithelial-mesenchymal transition in the female reproductive tract were summarised and classified into two groups: seven studies under ‘factor’-modulated epithelial-mesenchymal transition and three studies under ‘factor’-manipulated oestrogen-induced epithelial-mesenchymal transition. The current evidence proposes that epithelial-mesenchymal transition is one of the prime causes of reproductive-related disease. This event could be mediated by distinct stimuli, specifically oestrogen and Wnt4 aberration. The results of this review suggest that oestrogen and Wnt4 participate in epithelial-mesenchymal transition in vaginal epithelial cells in MRKH syndrome, adopting from the theories of endometriosis development, which could therefore serve as a foundation for novel target treatment, specifically related to vaginal epithelialisation, to ensure better surgical outcomes

Malaysian Females With Congenital Adrenal Hyperplasia: Surgical Outcomes and Attitudes

Background: Girls born with congenital adrenal hyperplasia have virilized external genitalia. There is considerable debate regarding both the outcomes of feminizing genitoplasty and timing of the surgery in this population.Objective: To investigate outcomes of females 46,XX individuals with CAH in Malaysia, the surgical outcomes of feminizing genitoplasty (FG) and their attitudes toward surgery.Study Design: This is a cross-sectional study involving the two main tertiary centers in Malaysia. All 46,XX patients with CAH and raised female, who had undergone FG were identified and invited to participate. Data on socio-demographic, medical profiles, and attitudes toward surgery were collected. A standardized evaluation of the external genitalia was undertaken including the anatomic and cosmetic evaluation by independent gynecologists.Results: Of 61 individuals identified, 59 participated—consisting of children (n = 12), adolescents (n = 29) and adults (n = 18). All but one had classical CAH (98.3%) and had undergone FG (n = 55, 93.2%) with surgery mostly undertaken by pediatric surgeons trained in DSD work (n = 44, 74.6%). Complications overall were low (20.3%), with repeat surgery rate of 9.1%. External genital examination was performed in 38 participants. Overall 36.8% had absent clitoral glands and 39.5% had a persistent urogenital sinus and in 10.5%, no vaginal orifices were seen. Poor cosmetic outcomes were present in 42.1% with 55.3% recommended for further assessment under general anesthetic. Almost half participants did not venture an opinion on FG, those who did varied from having a positive attitude toward it (18 participants) to 3 opining that it should not be done, or avoided or delayed. From the participants, 35.5% preferred FG to be done early in life compared to 44.0% of the parents.Conclusions: The reoperation rates of the feminizing genitoplasty surgeries were low however due to the anatomic and cosmetic outcomes, reassessment of the external genitalia of these CAH patients may be required once they consider becoming sexually active as they may require further treatment. Many factors such as cultural sensitivities and access to medical treatment and late diagnoses have an impact on attitudes toward FG

Chondrogenesis of adipose-derived stem cells with chondrocytes in low serum towards clinical application

Currently, fetal bovine serum (FBS) have been widely use in culture media to promote human cell proliferation. However, the usage of FBS for cell therapy in clinical application was associated with the risk of viral and prion transmission as well as immune rejection. To provide an option for this risk, this study was conducted to determine the effect of adipose derived stem cells (ADSCs) co-culture with chondrocyte in promoting cell proliferation and chondrogenesis toward FBS free condition. ADSCs co-cultured with chondrocyte at the ratio of 1:1, 2:1 and 1:2 were tested. Cell morphology changes, cell proliferation and gene expression level of stemness (Oct4, FGF-4, Nanog) and chondrogenic (Collagen Type II, ACP) were assessed. The results showed ADSCs in all co-culture groups changed morphology from fibroblastic spindle to polygonal shape which resembled chondrocytes. The morphological changes were accompanied with increased expression of chondrogenic genes; denoted chondrogenesis process. While maintaining expression of stemness genes indicated continuation of cell proliferation. From the three co-culture groups tested; ADSCs and chondrocytes (1:1 ratio) have been shown to exert better effects in promoting cell proliferation and chondrogenesis. In conclusion, ADSCs could replace FBS to grow sufficient number of chondrogenic cells to repair cartilage injury in the near future. Further in vivo study should be performed to test the effectiveness of this co-culture technique in cartilage injury repair

Obstetrics and gynaecology training in Malaysia: guide for applicants 2020

This document is a guide for those applying to enter postgraduate training in Obstetrics & Gynaecology. It contains information on the entry requirements for the specialty training programme, the selection process and what training entails. It is an extract from the New Postgraduate Curriculum for Obstetrics & Gynaecology and provides key summaries about the training structure, syllabus and assessments

The quality of life of young women with a menstrual problem and families attending a hospital-based gynaecological clinic in Melbourne, Australia

BACKGROUND: Menstrual disorders are very common among young women and have been shown to have negative effect on physical and psychosocial health. Despite high prevalence of menstrual dysfunction in young women, only small percentage seeks medical help. Very few papers have examined health related quality of life (HRQL) in younger population with menstrual problem. AIMS: The aim of the study was to assess young women’s and their parents’ perception on the impact of menstrual problem on the young women’s quality of life and identified factors that have impact on it. It was also aimed to describe the quality of life of parents of young women with menstrual problems and factors influencing their quality of life (QoL). METHOD: This was a descriptive, cross-sectional study conducted in Royal Children’s Hospital, Melbourne between 1st October 2008 till 30th June 2010. Research tools used for young women were PedsQL 4.0 generic module (Teen-report) and Parent Bonding Instrument whereas tools for parents include PedsQL 4.0 generic module (Parent-report), SF12v2 and Kessler Psychological Distress Scale. RESULTS: A hundred and eighty four young women and parents completed self-administered questionnaires. The most common menstrual problems seen in our gynaecological clinic were dysmenorrhoea (38.6%), followed by heavy menstrual bleeding (33.6%), oligomenorrhoea (19.6%) and amenorrhoea (8.2%). The mean overall score was 70.48+16.44 with 42.5% having a score below one standard deviation from the norms. Young women with dysmenorrhoea had the poorest score in physical function whereas those with amenorrhoea had the lowest score in psychosocial function. Higher body mass index, smoking, alcohol drinking, sexual activity, parental anxiety and parental overprotection were associated with poorerscore. Overall, parents rated lower QoL scores than young women themselves in all four domains (physical, emotional, social and school). Parent-child agreements were moderate to good with best agreement in school functioning. Parents’ of young women with menstrual problems reported lower QoL scores than the norm in all domains with worse scores in ‘role emotional’ and ‘mental health’ domain. Parental anxiety and medical illnesses were associated with poorer parental QoL. CONCLUSION: Although menstrual problems are not life threatening, they can pose a significant impact not only on the quality of life of these young women but also their parents. Identification of these impacts might lead to recognition of potential services or education to improve this. Understanding the characteristics that predict QoL may help clinician identify patients who are risk for poor QoL

Beneficial Effects of Probiotics on Benign Gynaecological Disorders: A Review

Probiotics are live microorganisms that confer beneficial effects on human health when an adequate dose is administered. Recently, the use of probiotics has gained tremendous interest from the public due to its promising effects in the management of various reproductive diseases. However, the review of probiotics’ benefits on benign gynaecological disorders, including vaginal infections, polycystic ovary syndrome (PCOS) and endometriosis, remains scarce. Therefore, this review is built on current knowledge on the beneficial effects of probiotics against selected benign gynaecological disorders. Recent findings point out that probiotics’ supplementation in different clinical and in vivo models showed promising health effects and results in the amelioration of disease symptoms. Thus, in this review, we showed the findings of both studies performed in clinical settings and animal studies. However, current information, solely based on clinical trials or animal studies, is inadequate in communicating the excellent findings on the beneficial effects of probiotics on human health. Therefore, future clinical intervention studies are required to further elucidate the evidence of the benefits of probiotics benefits regarding these gynaecological disorders