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1.
Aust N Z J Obstet Gynaecol ; 64(2): 95-103, 2024 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-37737451

RESUMO

BACKGROUND: Persistent pelvic pain (PPP) is a complex and often debilitating condition. While widely accepted to be multifactorial in nature, the precise aetiology of PPP remains elusive. In many cases, women who undergo laparoscopy for PPP will have no visible pathology identified (a 'negative' laparoscopy). Currently, there are no consensus guidelines which outline the recommended management following a negative laparoscopy, and the woman's experiences and outcomes are not widely known. AIMS: This review aims to identify and summarise the literature surrounding the experiences of women with PPP who have a negative laparoscopy; specifically, their outcomes of pain, quality of life (QoL), satisfaction with care, and their overall management. MATERIALS AND METHODS: A systematic search of the electronic databases Ovid Medline, PubMed and Embase was performed. Studies in English exploring the outcomes of women with PPP following a negative laparoscopy were included. RESULTS: Four studies consisting of a total of 200 women were included. Results were inconsistent. Three studies concluded that the majority of women with PPP had persistent pain following a negative laparoscopy. A single study found that pain significantly improved after negative laparoscopy. QoL outcomes varied, with two studies reporting a positive impact and two studies reporting a deleterious impact on QoL following a negative laparoscopy. CONCLUSIONS: The impact on pain outcomes and QoL following a laparoscopy that does not diagnose pathology remains unknown, and the available evidence is insufficient to guide evidence-based practice. This review highlights a significant gap in our understanding of surgical management for PPP.


Assuntos
Endometriose , Laparoscopia , Humanos , Feminino , Qualidade de Vida , Laparoscopia/efeitos adversos , Laparoscopia/métodos , Dor Pélvica/etiologia , Dor Pélvica/cirurgia , Endometriose/complicações
2.
J Obstet Gynaecol ; 44(1): 2359126, 2024 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-38813795

RESUMO

BACKGROUND: A biopsychosocial approach to the understanding of pelvic pain is increasingly acknowledged. However, there is a lack of standardised instruments - or their use - to assess risk factors and their impact on pelvic pain in both clinical and research settings. This review aims to identify validated tools used to assess known contributory factors to pelvic pain, as well as the validated tools to measure the impact of pelvic pain in adolescents and young adults, in order to provide a framework for future standardised, adolescent specific assessment and outcome tools. METHODS: Literature searches were performed in MEDLINE, PsycInfo and PubMed. Search terms included pelvic pain, dysmenorrhoea, endometriosis, adolescent, pain measurement, quality of life, sleep, mental health, coping strategies and traumatic experience. RESULTS: We found validated instruments to assess adverse childhood experiences and coping strategies, both known contributing factors to pelvic pain. The impact of pain was measured through validated tools for health-related quality of life, mental health and sleep. CONCLUSIONS: Pelvic pain evaluation in adolescents should include a multi-factorial assessment of contributing factors, such as childhood adversity and coping strategies, and impacts of pelvic pain on quality of life, mental health and sleep, using validated instruments in this age group. Future research should focus on the development of consensus amongst researchers as well as input from young women to establish a standardised international approach to clinical trials involving the investigation and reporting of pelvic pain in adolescents. This would facilitate comparison between studies and contribute to improved quality of care delivered to patients.


Pelvic pain is pain located in the lower abdomen, and includes period pain, which is the most common gynaecologic condition in adolescents and young adults. An approach that includes biological, psychological and social factors is important to understand and manage pelvic pain. Nonetheless, these factors are often poorly assessed in the clinic and research setting. We performed a literature review to identify tools that measure risk factors for pelvic pain, and those that evaluate the impact of pelvic pain. We found instruments that measure exposure to childhood trauma and coping strategies, which are risk factors for developing pelvic pain. We found tools to assess quality of life, mental health and sleep as an impact of pelvic pain. A standardised approach to pelvic pain, including instruments to measure risk factors and impact of pelvic pain, would facilitate comparison between studies and improve quality of care for patients.


Assuntos
Adaptação Psicológica , Dor Pélvica , Qualidade de Vida , Humanos , Adolescente , Dor Pélvica/psicologia , Dor Pélvica/etiologia , Feminino , Medição da Dor/métodos , Fatores de Risco , Saúde Mental , Experiências Adversas da Infância/psicologia , Dismenorreia/psicologia , Adulto Jovem , Sono/fisiologia
3.
J Paediatr Child Health ; 59(1): 95-99, 2023 01.
Artigo em Inglês | MEDLINE | ID: mdl-36250768

RESUMO

AIM: This study aimed to understand why adolescent girls and young women (AGYW) would seek consultation with a health professional about genital appearance concerns and/or request female genital cosmetic surgery (FGCS). The information derived from these participant interviews can inform clinical practice and help clinicians better navigate consultations with young women and girls requesting FGCS. METHODS: A qualitative exploratory study was conducted using in-depth, semi-structured interviews with AGYW (n = 11) in Victoria, Australia. Participants comprised 11 AGYW who sought consultation with a health professional when aged 13-19 years for genital appearance concerns and/or requests for FGCS. Key themes were identified using a thematic analysis approach. RESULTS: Of 11 participants, five had undergone FGCS between the ages of 13 and 23 years. Key reasons for seeking a consultation identified in the interviews included: ideas about what 'normal' genitals look like, experiences of sexual harassment and bullying, and concerns about genital appearance developing before sexual debut. CONCLUSIONS: It is important to understand why AGYW want to access these procedures, given the risks involved, and that FGCS is not recommended by paediatric specialist organisations. Understanding why AGYW seek consultation for FGCS can help inform clinical practice, and the views expressed by participants in this study can help clinicians who work in this area to better support their patients.


Assuntos
Assédio Sexual , Cirurgia Plástica , Criança , Humanos , Feminino , Adolescente , Adulto Jovem , Adulto , Cirurgia Plástica/métodos , Vitória , Genitália Feminina/cirurgia , Saúde da Mulher
4.
J Paediatr Child Health ; 59(4): 653-659, 2023 04.
Artigo em Inglês | MEDLINE | ID: mdl-36748561

RESUMO

AIM: The aim of this study was to describe the clinical features and investigations of vaginal bleeding in prepubertal children. METHODS: We performed a retrospective case series of children under the age of 10 who presented with vaginal bleeding to our institution between 2018 and 2019. RESULTS: There were 32 cases identified during the timeframe, with a mean age of 5.5 years (standard deviation 3.2 years, range 5.5 days to 9.6 years). Vulvovaginitis was the most common diagnosis (n = 12, 37.5%), followed by precocious puberty (n = 5, 15.6%). Uncommon but serious causes were vaginal rhabdomyosarcoma (n = 1), and sexual abuse (one patient presenting with gonorrhoea and one with a non-accidental injury). Vaginoscopy was performed in nine patients (28.1%) for various reasons, and a vaginal foreign body was identified in two patients (6.3%). All the patients who had a serious cause of bleeding (neoplasm or sexual assault) or who required specific treatment (precocious puberty, lichen sclerosus, urethral prolapse) presented with red flags on history and/or examination: recurrent episodes of vaginal bleeding, heavy bleeding, associated general symptoms (poor feeding and growth), presence of thelarche, abdominal mass, associated profuse vaginal discharge and abnormal genital examination (skin changes, urethral prolapse or protruding mass from the vagina). CONCLUSIONS: A thorough history-taking and clinical examination aiming at identifying red flags may help to discriminate between benign causes of vaginal bleeding, where no further investigations are indicated, and alternative diagnoses with a poor outcome and/or requiring specific treatment and additional investigations.


Assuntos
Ginecologia , Puberdade Precoce , Feminino , Criança , Humanos , Recém-Nascido , Puberdade Precoce/etiologia , Puberdade Precoce/complicações , Estudos Retrospectivos , Hemorragia Uterina/diagnóstico , Hemorragia Uterina/etiologia , Prolapso
5.
Aust N Z J Obstet Gynaecol ; 62(3): 434-438, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-35092607

RESUMO

BACKGROUND: Endometriosis affects one in nine Australian women of reproductive age, and is often associated with pain and infertility. However, many women may be asymptomatic, or present with alternative symptoms. AIM: To identify reasons for initial specialist referral among patients with endometriosis. MATERIAL AND METHODS: Patients were identified as having endometriosis intraoperatively based on International Classification of Diseases coding. Operation reports were reviewed and graded for severity of disease. This cohort was then retrospectively audited to identify reasons for initial referral to the general gynaecology, endosurgery, gynae-oncology, reproductive medicine outpatient departments (OPD) at the Mercy Hospital for Women in Melbourne between 1 February 2015 and 31 December 2016. RESULTS: Three hundred patients were identified as having endometriosis at laparoscopy, including 90 women with Stage IV disease. Patients were a mean (SD) age of 33.1 (7.6) years. While pain remained a common reason for referral (61.7% of referrals), 36.7% of women with Grade IV disease did not have pain included in their referral letter. Severe disease was associated with increased age (regression coefficient 0.05; 95% CI: 0.03-0.07, P < 0.01), but not with pain symptoms. Women referred with ovarian cysts or masses were more likely to be diagnosed with severe disease (regression coefficient 0.69; 95% CI: 0.37-1.01, P < 0.01). CONCLUSION: Although pelvic pain is not a good predictor for a diagnosis of endometriosis, it remains a common symptom among women with the disease. However, more than one in three patients with Grade IV endometriosis presented without mention of pain symptoms, encouraging clinicians to adopt a broader approach to the presenting symptoms of endometriosis.


Assuntos
Endometriose , Dor Pélvica , Adulto , Austrália/epidemiologia , Endometriose/complicações , Endometriose/diagnóstico , Feminino , Humanos , Laparoscopia , Dor Pélvica/etiologia , Estudos Retrospectivos
6.
Aust N Z J Obstet Gynaecol ; 62(6): 887-893, 2022 12.
Artigo em Inglês | MEDLINE | ID: mdl-35989428

RESUMO

BACKGROUND: An incidental finding of a thickened endometrium on ultrasound in the postmenopausal patient without bleeding is a common presentation to gynaecological services; however there is limited evidence to guide clinical practice as to when hysteroscopic evaluation and endometrial sampling is required. AIMS: To determine the endometrial thickness at which endometrial sampling is indicated in asymptomatic postmenopausal women referred with thickened endometrium on ultrasound. MATERIALS AND METHODS: A single-centre retrospective case series of postmenopausal women without bleeding undergoing hysteroscopy was conducted. Logistic regression was used to examine the association between a range of variables and pre-malignant or malignant pathology and endometrial thickness. The optimal endometrial thickness threshold was identified to maximise model sensitivity. RESULTS: A total of 404 postmenopausal women were included in this study, having undergone a hysteroscopy at the study site between 1 July 2008 and 30 June 2018. The mean (SD) age of patients at presentation was 65 (9.09) years and the mean body mass index was 29.86 kg/m2 (6.52). Of these women, nine (2.2%) were diagnosed with endometrial carcinoma and seven (1.7%) had endometrial hyperplasia with atypia. The most common histopathological finding was of a benign endometrial polyp (153: 37.9%). When including hyperplasia with or without atypia in histopathology of interest, a cut-off of ≥9 mm provides the greatest sensitivity (83.3%) and specificity (63.8%) for a diagnosis of pre-malignant or malignant pathology (classification accuracy of 64.8%; area under the receiver operating characteristic: 0.7358, 95% CI: 0.6439, 0.8278) in this cohort. CONCLUSIONS: Using an endometrial thickness of ≥9 mm can be used as a cut-off for endometrial sampling in postmenopausal women without bleeding.


Assuntos
Hiperplasia Endometrial , Neoplasias do Endométrio , Pólipos , Gravidez , Humanos , Feminino , Idoso , Pós-Menopausa , Estudos Retrospectivos , Hiperplasia Endometrial/diagnóstico por imagem , Hiperplasia Endometrial/patologia , Histeroscopia , Endométrio/diagnóstico por imagem , Endométrio/patologia , Neoplasias do Endométrio/diagnóstico por imagem , Neoplasias do Endométrio/patologia , Ultrassonografia , Hemorragia Uterina/diagnóstico , Hemorragia Uterina/etiologia
7.
J Paediatr Child Health ; 57(9): 1402-1407, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-33928709

RESUMO

AIM: Management of children with differences/disorders of sex development (DSD) is complex with limited evidence to guide clinical decisions. Regular multidisciplinary team meetings were set up in Sydney and Melbourne paediatric hospitals to enable systematic peer review of complex decision-making. We aim to describe the workload and role of these meetings. METHODS: The multidisciplinary team forum includes invited representatives from endocrinology, urology, gynaecology, genetics, psychology, social work, clinical ethics, laboratory and hospital executive and meetings occur 1-3 times monthly. Descriptive data were collected from de-identified meeting referrals and minutes between August 2012 to August 2018 (Sydney) and January 2014 to August 2018 (Melbourne). RESULTS: A total of 192 referrals (142 new and 50 follow-ups) aged 1 week to 17 years were discussed across the two sites. 46, XY DSD (n = 81) was the most common sub-classification. Consideration of surgical options and optimal management of gonads with malignant potential were amongst the common reasons for referral to the multidisciplinary team meetings. Surgical interventions were considered but not recommended after review for 38 of 154 (24.7%) procedures. Gonad retention to allow potential functional benefit was recommended in 15/46 (32.6%) referrals. Evidence of premalignant or malignant changes was found in 20/57 (35%) gonads removed, with dysgenetic features and atrophy/streak features in 6 (10.5%) and 27 (47.4%) gonads respectively. CONCLUSION: Formal DSD multidisciplinary team meetings provide a framework and opportunity for multi and interdisciplinary discussions amongst representatives from several specialities to help make complex decision-making.


Assuntos
Transtornos do Desenvolvimento Sexual , Equipe de Assistência ao Paciente , Adolescente , Criança , Transtornos do Desenvolvimento Sexual/terapia , Humanos , Encaminhamento e Consulta , Desenvolvimento Sexual
8.
J Obstet Gynaecol Res ; 47(1): 352-358, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-33084069

RESUMO

AIM: To describe the characteristics, management and outcomes of a cohort of young people with dysmenorrhea presenting to a tertiary adolescent gynecology service, managed primarily with medical interventions. METHODS: A retrospective cohort study was conducted at the Royal Children's Hospital in Melbourne, Australia. Data were collected from medical records of patients presenting with dysmenorrhea and/or pelvic pain. RESULTS: Of 154 patients, mean age of presentation was 15.7 years (SD = 2.2) and mean duration of pain was 14.9 months (SD = 10.8). Regular cycles were reported by 64.5%, and heavy menstrual bleeding (HMB) in 67.8%. Patients self-reporting HMB reported less pain on the day prior to menses than those not reporting HMB (P < 0.005). At follow-up, therapeutic interventions included nonsteroidal anti-inflammatory drugs, tranexamic acid and cyclic or continuous combined oral contraceptive pills. Laparoscopies were undertaken in 12 (8.1%) patients, with normal findings in 8 (66.7%). Secondary dysmenorrhea was identified in 10 patients: of these, endometriosis was identified in one patient and unilateral obstructive Müllerian anomalies in six. Overall, 92.2% of patients had improvement in symptoms after treatment. CONCLUSION: Laparoscopy and endometriosis rates in patients presenting to a tertiary center were lower than previously reported, with most patients achieving symptom improvement without laparoscopy.


Assuntos
Dismenorreia , Endometriose , Adolescente , Austrália/epidemiologia , Criança , Tratamento Conservador , Dismenorreia/epidemiologia , Dismenorreia/terapia , Feminino , Humanos , Estudos Retrospectivos
9.
Aust N Z J Obstet Gynaecol ; 61(4): 625-627, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-33763870

RESUMO

The high incidence and burden of pelvic pain are increasingly recognised in both the healthcare sector and by the general public. Current approaches to management assume that the diagnosis and remediation of identified lesions will ease this burden. The evidence base and successes in other areas of medicine would suggest that this assumption requires reconsideration.


Assuntos
Endometriose , Dismenorreia , Endometriose/complicações , Endometriose/diagnóstico , Endometriose/terapia , Feminino , Humanos , Incidência , Dor Pélvica/etiologia , Dor Pélvica/terapia
10.
Aust N Z J Obstet Gynaecol ; 61(2): E6-E11, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33386748

RESUMO

BACKGROUND: Persistent pelvic pain affects between 10-20% of women with a significant impact on their physical and mental health, sexual relationships, families and society. Estimates of the cost to women and the community is over $9 billion/annum. Although endometriosis is considered a leading cause of pelvic pain, no symptoms reliably allow the identification of those with and without endometriosis. Furthermore, the significance of mild endometriosis is now debated. The optimal clinical approach for pelvic pain and endometriosis remains unclear, with increasing evidence of other contributing factors such as central sensitisation. Studies to date have significant limitations due to their sample size, relatively short follow-up, and inclusion of only women with laparoscopically identified endometriosis. AIMS: To undertake a real-world study of women referred with pain to gynaecology outpatients of a women's hospital and explore factors influencing three-year outcomes. MATERIALS AND METHODS: Five hundred women will be randomised to one of two gynaecology units. The units will provide routine clinical care but their approaches to management of women with pelvic pain and endometriosis differ: one with skilled endoscopic gynaecologists has greater emphasis on surgery, the other, gynaecologists have more medical expertise in managing pain and menstrual problems. Participants will complete six-monthly questionnaires regarding pain and quality of life for three years. This information will not be available to clinicians. Their medical care will be followed from their medical records. The cost of outpatient care and admissions will be calculated. Data will be analysed using STATA software with appropriate post hoc tests. Australian and New Zealand Clinical Trials Registry (ANZCTR:ACTRN12616000150448).


Assuntos
Endometriose , Qualidade de Vida , Austrália , Endometriose/complicações , Feminino , Hospitais Públicos , Humanos , Nova Zelândia/epidemiologia , Dor Pélvica/etiologia , Ensaios Clínicos Controlados Aleatórios como Assunto
11.
Aust N Z J Obstet Gynaecol ; 61(5): 765-772, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-34028794

RESUMO

BACKGROUND: Chronic pelvic pain (CPP) is a common condition which significantly impacts the quality of life and wellbeing of many women. Laparoscopy with histopathology is recommended for investigation of pelvic pain and identification of endometriosis with concurrent removal. Never-the-less, the association between endometriosis and pelvic pain is challenging, with endometriosis identified in only 30-50% of women with pain. AIMS: To explore the predictors for undergoing surgery, for identifying endometriosis and endometriosis severity in a cohort of women with CPP. MATERIALS AND METHODS: This study forms part of the Persistent Pelvic Pain project, a prospective observational cohort study (ANZCTR:ACTRN12616000150448). Women referred to a public gynaecology clinic with pain were randomised to one of two gynaecology units for routine care and followed for 36 months with 6-monthly surveys assessing demographics, medical history, quality of life, and pain symptoms measured on a Likert scale. Operative notes were reviewed and endometriosis staged. RESULTS: Of 471 women recruited, 102 women underwent laparoscopy or laparotomy, of whom 52 had endometriosis (n = 37 stage I-II; n = 15 Stage III-IV). Gynaecology unit, pelvic pain intensity and lower parity were all predictors of surgery (odds ratio (OR) 0.342; 95% CI 0.209-0.561; OR 1.303; 95% CI: 1.079-1.573; OR 0.767; 95% CI: 0.620-0.949, respectively). There were no predictors identified for endometriosis diagnosis and the only predictor of severity was increasing age (OR 1.155; 95% CI: 1.047-1.310). CONCLUSIONS: Gynaecology unit and pain intensity were key predictors of undergoing laparoscopy; however, pain severity did not predict endometriosis diagnosis or staging. These findings indicate the need to review current frameworks guiding practice toward surgery for pelvic pain.


Assuntos
Endometriose , Laparoscopia , Endometriose/complicações , Endometriose/diagnóstico , Endometriose/cirurgia , Feminino , Humanos , Dor Pélvica/etiologia , Gravidez , Estudos Prospectivos , Qualidade de Vida
12.
Health Qual Life Outcomes ; 18(1): 258, 2020 Aug 01.
Artigo em Inglês | MEDLINE | ID: mdl-32738912

RESUMO

BACKGROUND: This study investigates the health-related quality of life (HRQOL) of female patients with congenital adrenal hyperplasia (CAH) in Malaysia. The objectives were to attain socio-demographic and medical data on these Malaysian females with CAH and establish their health-related quality of life (HRQOL) in comparison to age matched diabetic controls. METHODS: A cross-sectional study was conducted over 6 months in the two main tertiary centres for CAH patients in Malaysia. Participants including 59 female-raised CAH patients (mean age ± SD = 16.3 ± 4.2 years, range 10-28 years) compared to 57 age-matched female diabetic patients (mean age ± SD = 16.5 ± 3.4 years, range 10-26 years). Socio-demographic and medical profiles was obtained through semi-structured interviews. HRQOL of participants were evaluated utilising validated, Malay translated questionnaires which were age appropriate: Pediatric Quality of Life Inventory (PedsQL v4.0) scales for Child (8-12) and Adolescent (13-18) and Medical Outcome Survey 36-item Short Form version. These were then compared to the diabetic controls. RESULTS: The CAH participants consisted of children (ages 10-12 years, n = 12), adolescents (ages 13-17 years, n = 29) and adults (≥ 18 years, n = 18). The majority were Malays (64.4%) and had salt-wasting CAH (67.8%). There were no significant differences between the total mean score of the HRQOL of the combined children and adolescents CAH group (total mean score ± SD = 81.6 ± 17.9, 95% CI = 75.6-87.6) when compared to age-matched diabetic patients (total mean score ± SD = 80.8 ± 11.0, 95% CI = 77.0-84.5, P = 0.81, effect size = 0.05); no significant difference between the adult CAH and diabetic controls in the physical [median score (IQR) CAH vs diabetics; 49.3 (11.4) vs. 50.2 (6.1), P = 0.60, effect size = 0.09] and the mental composite scores [median score (IQR) CAH vs. diabetics; 47.8 (14.1) vs. 50.0 (10.8), P = 0.93, effect size = 0.01]. CONCLUSIONS: The HRQOL of the Malaysian CAH cohort were comparable to the diabetic controls.


Assuntos
Hiperplasia Suprarrenal Congênita/psicologia , Qualidade de Vida , Adolescente , Adulto , Fatores Etários , Estudos de Casos e Controles , Criança , Estudos Transversais , Diabetes Mellitus/psicologia , Feminino , Humanos , Malásia , Inquéritos e Questionários , Adulto Jovem
13.
J Paediatr Child Health ; 56(1): 90-93, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31144364

RESUMO

AIM: To review presentations, diagnostic processes and time to diagnosis of presentations of imperforate hymen at one tertiary paediatric hospital over a 10-year period. The aim was to improve knowledge, enable targeted education and reduce unnecessary tests and diagnostic delay for this congenital obstructive disorder of the female reproductive tract. METHODS: A pragmatic, retrospective, observational study was conducted of all female patients, aged younger than or equal to 18 years of age, presenting to the Royal Children's Hospital, Melbourne, over an 18-year period. Presenting symptom(s), time to diagnosis, investigations ordered and number of health-care professionals consulted prior to diagnosis were recorded. RESULTS: A total of 27 patients met eligibility criteria, and 85% presented with pain (23/27). Pain was frequently associated with other symptoms (15/23). Over three quarters of patients consulted more than one health-care professional prior to diagnosis (22/27). Of the 27 patients, 19 had imaging undertaken prior to diagnosis. CONCLUSIONS: Paediatric and adolescent females managed at our tertiary paediatric hospital are experiencing diagnostic uncertainty and the unnecessary ordering of imaging prior to a diagnosis of imperforate hymen. Targeted education is recommended to health professionals managing female paediatric and adolescent patients.


Assuntos
Diagnóstico Tardio , Hímen , Adolescente , Idoso , Criança , Feminino , Humanos , Hímen/cirurgia , Dor , Estudos Retrospectivos
14.
Hum Mutat ; 40(7): 886-892, 2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-30924587

RESUMO

Premature ovarian insufficiency involves amenorrhea and elevated follicle-stimulating hormone before age 40, and its genetic basis is poorly understood. Here, we study 13 premature ovarian insufficiency (POI) patients using whole-exome sequencing. We identify PREPL and TP63 causative variants, and variants in other potentially novel POI genes. PREPL deficiency is a known cause of syndromic POI, matching the patients' phenotype. A role for TP63 in ovarian biology has previously been proposed but variants have been described in multiorgan syndromes, and not isolated POI. One patient with isolated POI harbored a de novo nonsense TP63 variant in the terminal exon and an unrelated patient had a different nonsense variant in the same exon. These variants interfere with the repression domain while leaving the activation domain intact. We expand the phenotypic spectrum of TP63-related disorders, provide a new genotype:phenotype correlation for TP63 and identify a new genetic cause of isolated POI.


Assuntos
Códon sem Sentido , Insuficiência Ovariana Primária/genética , Fatores de Transcrição/genética , Proteínas Supressoras de Tumor/genética , Feminino , Predisposição Genética para Doença , Humanos , Linhagem , Prolil Oligopeptidases , Domínios Proteicos , Serina Endopeptidases/genética , Fatores de Transcrição/química , Proteínas Supressoras de Tumor/química , Sequenciamento do Exoma/métodos
16.
Eur J Pediatr ; 178(9): 1325-1332, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31292729

RESUMO

Dysmenorrhoea is the most common gynaecological symptom in adolescents. Secondary dysmenorrhoea is mostly due to endometriosis. There are no known follow-up studies of dysmenorrhoea into adulthood. Cases of endometriosis often have a long history of dysmenorrhea; however, studies to date have been retrospective. This longitudinal cohort study aimed at analysing the long-term outcomes of dysmenorrhoea and associated rate of endometriosis identified in this cohort. Participants of a study of adolescents seen for dysmenorrhoea were followed-up at an average of 10.24 years. Of those contactable (74), 70 (94.6%) were included. As adults, 19 (27.1%) had slight or no pain with menstruation. Increased age of menarche was found to be associated with no menstrual pain in adulthood (OR 2.10, p = 0.034). No adolescent characteristic studied was found to be associated with severe or very severe dysmenorrhoea as an adult. At follow-up, 13 young women (18.6%) had been diagnosed with endometriosis. All cases of endometriosis were mild. The use of the oral contraceptive pill as an adolescent and feeling an improvement in symptoms with treatment as an adolescent were found to be associated with a diagnosis of endometriosis.Conclusion: These findings are important for counselling adolescents regarding this common presentation. What is Known: •Dysmenorrhoea is the most common gynaecological complaint for adolescents What is New: •Dysmenorrhoea from adolescence resolves in 1 in 4 of young women and no adolescent characteristics predict severe or very severe pain with menstruation in adults. •Only 1 in 5 of women were found to have endometriosis (all mild disease), despite a mean of 10 years of preceding dysmenorrhoea.


Assuntos
Dismenorreia/diagnóstico , Adolescente , Adulto , Progressão da Doença , Dismenorreia/complicações , Dismenorreia/fisiopatologia , Dismenorreia/psicologia , Endometriose/complicações , Endometriose/diagnóstico , Endometriose/psicologia , Feminino , Humanos , Estudos Longitudinais , Prognóstico , Estudos Retrospectivos , Índice de Gravidade de Doença , Adulto Jovem
17.
Aust N Z J Obstet Gynaecol ; 59(1): 123-133, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-29926915

RESUMO

BACKGROUND: Clinician and patient factors impact on the management of chronic pelvic pain (CPP) with medical, surgical or combined approaches possible, although none have proven superior. AIMS: To understand the characteristics of women offered laparoscopic pelvic surgery for CPP. MATERIALS AND METHODS: We performed an observational study of women referred with CPP. They were asked to complete a study questionnaire regarding their symptoms, medical history, quality of life and pain catastrophisation. Examination and ultrasound findings were collected from patient records. Gynaecologists who recommended a laparoscopy completed a survey detailing their reasoning at the time of booking. The outcomes were investigated using a Cox proportional hazards ratio (HR) model. RESULTS: Of 211 participants, 59 (28%) were booked for laparoscopic surgery during the study timeframe. Factors increasing the rate of laparoscopy included severe dysmenorrhoea (Cox HR = 1.94; P = 0.017), unsuccessful trial of hormonal therapy (Cox HR = 1.81; P = 0.044), prior abdominal surgery (Cox HR = 1.79; P = 0.030), prior pelvic laparoscopy (Cox HR = 2.00; P = 0.007) and past diagnosis of endometriosis (Cox HR = 5.44; P = 0.010). Abnormal vaginal examination (Cox HR = 2.86; P = 0.019) and ultrasound probe tenderness (Cox HR = 2.52; P < 0.001) also increased the likelihood of surgery. Surgical and non-surgical patients did not differ in family history, quality of life or pain catastrophisation. Of gynaecologists' questionnaires, 75% were returned. Results indicated they were most influenced by the severity or duration of pain and least by examination or ultrasound findings. CONCLUSIONS: The characteristics of women booked for surgery were in keeping with the features evidence suggests increases the risk of pathology. There were some discrepancies between patient characteristics elicited in the questionnaires and those indicated by gynaecologists to influence their decision.


Assuntos
Dor Pélvica/cirurgia , Qualidade de Vida , Encaminhamento e Consulta , Adolescente , Adulto , Criança , Feminino , Humanos , Laparoscopia , Pessoa de Meia-Idade , Medição da Dor , Dor Pélvica/psicologia , Inquéritos e Questionários , Centros de Atenção Terciária , Vitória , Adulto Jovem
20.
J Paediatr Child Health ; 54(4): 439-442, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29330890

RESUMO

AIM: To audit the clinical features and outcomes for all patients referred to our centre with concerns regarding labial appearance. METHODS: Young females referred to a paediatric/adolescent gynaecology tertiary centre between 2000 and 2012 with concerns regarding their labial appearance were retrospectively identified. Adolescents presenting with anomalies were excluded. Retrospective chart review was undertaken to identify reasons for referral, patient characteristics, outcome of referral and concurrent health problems. RESULTS: In total, 46 females presenting with concerns about labial appearance were identified. Five were excluded. Median age of the study population was 14.5 years (range 5-21 years). Only four (9.8%) underwent surgery after a minimum of five consultations each, with mental health review in three of four cases prior to surgery. None of the 41 patients had documented abnormal labia; however, 6 patients had asymmetry, and 3 had a labial width of >5 cm. Of mothers, 24% (n = 10) raised the initial concern regarding labial appearance to a physician, of whom, 50% of patients had a comorbid condition. In total, 70.7% initially reported interference with daily activities, and 87.8% were reassured following discussion. CONCLUSIONS: With appropriate education and counselling, the majority of girls with concerns regarding labial appearance can be managed without surgery. Overall, our data support current international policy that female cosmetic genital surgery not be performed in mature minors unless there are specific indications. More research about characteristics of patients referred with labial concerns, definition of labial size and long-term satisfaction of conservative versus surgical methods is necessary to determine the best approach.


Assuntos
Imagem Corporal , Vulva/anatomia & histologia , Adolescente , Imagem Corporal/psicologia , Criança , Pré-Escolar , Auditoria Clínica , Feminino , Humanos , Hipertrofia , Mães , Encaminhamento e Consulta , Estudos Retrospectivos , Cirurgia Plástica , Vulva/patologia , Vulva/cirurgia , Adulto Jovem
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