Experiences of pelvic and generalized persistent pain syndromes in MRKH: a scoping review.

STUDY OBJECTIVES: Mayer-Rokitansky-Küster-Hauser Syndrome (MRKH) is characterized by the congenital absence of the uterus and vagina, sometimes with associated extragenital anomalies. Currently there is limited literature on pelvic pain and co-morbid pain syndromes in people with MRKH. The aims of this scoping review were to summarize existing literature on pelvic and generalized persistent pain syndromes associated with MRKH and to identify knowledge gaps for further research into this field. METHODS: This scoping review followed the Joanna Briggs Institute framework. The population of interest was patients with a diagnosis of MRKH. MEDLINE, CINAHL, Scopus, Cochrane, Embase and Emcare databases were searched. Excluded were articles that did not meet the inclusion criteria or critical appraisal standards. The resultant articles were reviewed by 2 independent researchers while a third was used in cases of disagreement. A descriptive analytical method was used for data analysis. RESULTS: We screened 3348 articles for eligibility, 39 articles met criteria, which described 1353 cases of MRKH. 4 studies described baseline pelvic pain in MRKH, 19 described acute presentations and 13 described post-intervention pain levels. CONCLUSION: Despite the paucity of research, this review found that cyclical pelvic pain was mostly present in women with uterine remnants, whilst pelvic pain in those without remnants was poorly understood. There were no studies exploring generalized persistent pain syndromes in MRKH. Further cross-sectional studies are needed to elucidate prevalence and levels of pain syndromes in MRKH.

Surgical timing and complications, with body image, quality of life, sexual function and genital sensation in patients with congenital adrenal hyperplasia.

INTRODUCTION: The aim of this project was to document the long-term outcomes relating to sexual function, genital sensation, body image and quality of life, in an Australian cohort of adolescent and adult women with congenital adrenal hyperplasia (CAH) who have undergone feminising genitoplasty in infancy, childhood or adolescence. MATERIALS AND METHODS: Identification and follow-up of women with CAH aged 12-40 years who had their first feminising genitoplasty or ongoing management at a single tertiary referral center with multidisciplinary care (n = 80). Medical records were reviewed for Prader stage, and operative outcomes. The prospective component of the study included tracing indivudals aged 12-40 years (n = 69), of whom 34 were contactable. Twenty-one responded to the invitation to participate in the study, completing some or all of a series of validated standardized questionnaires and/or participation in examination of external genital with sensation testing. Results were compared to a control population of similar age distribution (n = 23). RESULTS: The median Prader stage was 3, median age at surgery was four months, median hospital stay of three days with 80 % of surgery undertaken by one surgeon. There was one major and eight minor complications. Re-operation rates were low. There was no difference between participants and controls in terms of sexual function, quality of life, or body image outcomes including genital appearance. Participants had increased sensitivity to soft touch on genital sensation testing compared to controls. Most participants (71 %) reported that early timing of surgery was 'good', four (19 %) felt their surgery was too late, one felt their surgery was too early, and one was unsure. Most were happy with the outcome of their surgery. DISCUSSION: Outcomes after feminising genitoplasty are mixed and influenced not only by the surgery itself, but also the ongoing management of the condition alongside each patient's own cultural and social context. At present there is no comparative data available on the sexual, mental, body image and quality of life outcomes of young females with CAH who have had their operation delayed until adulthood. Our study is limited by low participant response rate, and difficulty recruiting 1:1 control population for all participants, but nevertheless provides some insight into the outcomes of these patients for which limited data is available. CONCLUSION: In the population studied feminising genitoplasty in infancy and childhood had overall positive outcomes. This occurred in a tertiary center with expert multidisciplinary individualised care.

Surgically Managed Ovarian Masses at the Royal Children's Hospital, Melbourne -19 Year Experience.

BACKGROUND/PURPOSE: To describe the clinicopathological characteristics and management of surgically removed ovarian masses at the Royal Children's Hospital, Melbourne from 1993 to 2012. METHODS: Medical records were reviewed retrospectively. Data regarding clinical findings, imaging and surgical management were evaluated. RESULTS: There were 266 ovarian masses found in 258 surgeries (eight had bilateral masses). Most were benign (246/266, 92.5%), 2.3% (6/266) were borderline, and 5.3% (14/266) were malignant. The most common presenting symptom was abdominal pain for benign masses (169/246, 68.7%), and a palpable mass for borderline and malignant masses (12/20, 60.0%). Sensitivity and specificity of ultrasound for detection of malignancy was 64.7% and 52.9% respectively. Ovarian torsion occurred in 22.1% (n=57), none with malignancy, with seven cases diagnosed under one year of age. Sensitivity and specificity of ultrasound for ovarian torsion was 22.0% and 91.9%, respectively. The proportion undergoing ovarian cystectomy rather than oophorectomy has increased from 56.3% during 1993-1997 to 93.8% during 2008-2012 (p<0.005). Ovarian torsion was managed with ovarian conservation in 82.6% of cases between 2008-2012. CONCLUSION: The majority of pediatric and adolescent ovarian masses were benign. Sensitivity of ultrasound was fair for detection of malignancy, and poor for ovarian torsion. Conservative surgeries are increasingly common. LEVEL OF EVIDENCE: Level IV - case series with no comparison group TYPE OF STUDY: Retrospective Study.

Long-term urinary symptoms in adolescent and adult women with congenital adrenal hyperplasia.

BACKGROUND: Congenital adrenal hyperplasia (CAH) is an autosomal recessive condition resulting in excess androgen production. Females are typically born with ambiguous genitalia and often undergo feminising genitoplasty in infancy or childhood. Recently, there has been considerable international debate as to whether distressing urinary symptoms in CAH patients are truly present and, if so, whether these urinary problems are a consequence of the feminising genitoplasty. OBJECTIVE: To identify and assess any urinary symptoms in an Australian cohort of adolescent and adult women with CAH who have undergone feminising genitoplasty in infancy, childhood or adolescence as a part of their management. STUDY DESIGN: Females with CAH aged 12-40 years, who had undergone feminising genitoplasty, and were identified from a hospital database (n = 72). Those aged 12-15 years were assessed using the Paediatric Incontinence Symptom Index questionnaire in conjunction with sections of the Bristol Female Lower Urinary Tract Symptoms Scored Form questionnaire. Those aged 16-40 years were assessed using the Bristol Female Lower Urinary Tract Symptoms Scored Form questionnaire. Uroflowmetry studies and post-void residual volume ultrasounds were also conducted. Previously published normative data were used for the control population. RESULTS: Responses to the questionnaire indicated that CAH patients had a higher incidence of urgency, frequency, urge incontinence, unexplained incontinence and nocturnal incontinence, when compared to previously published control data. Average and maximum urine flow rates measured by uroflowmetry were within normal range; however, the 16-40-year-old age group had significantly increased mean post-void residual volumes (P < 0.001) (Summary table). DISCUSSION: The presence of lower urinary tract symptoms in these patients has previously been interpreted as a direct outcome of feminising genitoplasty; however, these results could also be accounted for by the virilisation of pelvic floor musculature. Androgens have been shown to increase skeletal muscle mass, but their exact impact on the pelvic floor musculature requires further research. Three previous studies have measured post-void residual volumes in patients with CAH, all of which found it them be raised. CONCLUSIONS: Patients with CAH appeared to have overall normal urinary flow but increased post-void residual volumes. The data suggested that this population of patients has an increased probability of incontinence, urgency, and frequency when compared to a control population. These results confirmed findings of other small studies; however, it remains unclear if these changes reflected the underlying diagnosis or were a consequence of management.

Vaginal agenesis, the hymen, and associated anomalies.

STUDY OBJECTIVES: Review anomalies in patients with vaginal agenesis. In particular, to clarify the impact of an absent hymen on the presence of other anomalies; on the success of creating a vagina with dilators; and on sexual function outcomes. DESIGN: Retrospective medical record review; questionnaire on sexual function. SETTING: Gynecology service at a children's hospital and the practice of 1 gynecologist. PARTICIPANTS: All patients with vaginal agenesis were identified from the databases, as well as the subgroup in which hymenal status was known. OUTCOME MEASURES: Data regarding hymen, renal, skeletal, cardiac, and other anomalies; for women who had a neovagina, the technique used to create a functional vagina. RESULTS: Of 69 females (age range 2-70 years), renal tract anomalies (43.3%), vertebral anomalies (29%), cardiac anomalies (14.5%), and syndromes including Klippel-Feil (7%) and MURCS association (7%) were identified. Where hymenal status was known (n = 47), 31 were normal, and 16 had an absent hymen. Where the hymen was absent, renal agenesis was increased (odds ratio = 13.5, P < .001). There was no association between other anomalies and an absent hymen, or between the various anomalies. For women without a hymen, the likelihood of failing dilation therapy was increased (odds ratio = 21.7; P < .01]. CONCLUSION: An absent hymen makes renal agenesis more likely and increases the likelihood that dilator techniques will fail. This condition appears to be associated with reports of long-term problems with poor lubrication that are potentially related to the absence of the peri-hymenal Bartholin's glands.

The Kelly technique of bladder exstrophy repair: continence, cosmesis and pelvic organ prolapse outcomes.

PURPOSE: The Kelly technique of radical soft tissue mobilization, an alternative to osteotomy and modern staged repair, has been used extensively at our tertiary referral center for bladder exstrophy in the last 2 decades. We present what is to our knowledge the first long-term followup of the Kelly technique in 31 patients treated at our institution. MATERIALS AND METHODS: Patients admitted for bladder exstrophy at our institution since 1980 were identified and the medical charts were reviewed. Continence questionnaires were completed during followup appointments or by mail. Continence was defined as complete-dry greater than 3 hours during the day and night with 2 or fewer night wets per month and partial-dry 2 hours or more during the day and 3 or greater night wets per month, and/or stress incontinence. The degree of pelvic organ prolapse was assessed in females older than 12 years. RESULTS: Data were available on 31 Kelly patients, including 14 females, 4 to 25 years old and 13 patients, including 4 females, 2 to 29 years old treated with another staged technique. Of 30 Kelly patients without urinary diversion 21 (70%) were completely or partially continent. Of the 30 patients 17 voided spontaneously without clean intermittent catheterization or augmentation, of whom 12 (71%) were continent. Lower abdominal appearance was graded as abnormal in 11 of 12 male Kelly patients vs in 2 of 7 nonKelly males with pubic approximation (p = 0.01). Of the 12 females assessed none of 9 Kelly patients had prolapse, whereas 2 of 3 nonKelly patients had prolapse (p <0.05). CONCLUSIONS: The continence rate after the Kelly operation compares favorably with that in recent series. The abnormal appearance of the lower abdomen and bony pelvis in Kelly males may result from a lack of pubic approximation. Importantly pelvic organ prolapse may be decreased in women after the Kelly technique.

Current concepts in bone and reproductive health in adolescents with anorexia nervosa.

Anorexia nervosa (AN) initiates an adaptive response at the level of the hypothalamus, which results in a complex interplay involving most elements of the neuroendocrine axis. Consequences of onset of disease in adolescence include amenorrhoea, pubertal arrest with potential loss of target height, and osteoporosis with reduced capacity for future attainment of peak bone mass. With recovery, delay in restoration of menses is common. Hormonal therapies for restoration of bone mineral density (BMD) in adolescents have shown limited efficacy. This review will discuss the reproductive endocrine effects of AN in adolescence, and discuss new investigative tools for monitoring restoration of reproductive function and BMD in this population.

Ovarian lesions in children and adolescents--an 11-year review.

OBJECTIVE: To describe the spectrum of pediatric ovarian pathology, identifying the clinical features and ultrasound characteristics that help in decisions about patient management, and to correlate these with ovarian pathology. PATIENTS AND METHODS: Retrospective analysis of 134 records of patients admitted with ovarian lesions to Royal Children's Hospital, Melbourne over an 11-year period (1989-99 inclusive). RESULTS: The age of presentation varied widely from 2 days to 19 years with 63.4% being over 12 years of age. Eighty-one patients (60.4%) had physiological or functional ovarian cysts, 52 of which required surgical intervention. Forty-four patients (32.8%) had neoplastic lesions and a palpable abdominal mass was felt in 53.7% of them. Mature cystic teratoma or dermoid cyst, seen in 27 patients, was the commonest neoplasm, and 77.8% of these children were under 12 years. Six children had malignant ovarian neoplasms, of which five were germ cell in origin. Five patients had epithelial or stromal neoplastic lesions. Endocrine manifestations were seen in seven patients and included early or precocious puberty and virilization. Plain trans-abdominal ultrasonography was useful in identifying ovarian lesions in 94 (81.7%) of the 115 patients in whom it was performed, but was not helpful in determining the nature of the lesion. Neoplastic ovarian lesions were commonly greater than 10 cm in diameter CONCLUSIONS: Physiological or functional ovarian cysts are the most common ovarian lesions seen in the pediatric age group and malignant neoplasms are rare. A palpable abdominal mass or ovarian lesion >10 cm was significantly associated with the lesion being neoplastic. Lesions <5 cm in post-pubertal girls were significantly more likely to be non-neoplastic. Ultrasonography is useful in localizing ovarian lesions but is not helpful in determining their pathological nature. Endocrine manifestations sometimes occur with either benign or malignant lesions of the ovary.

Vitamin D deficiency in veiled or dark-skinned pregnant women.

OBJECTIVES: To determine the vitamin D status of veiled or dark-skinned pregnant women, because of their known increased risk of vitamin D deficiency. DESIGN: An audit of vitamin D status. SETTING: An antenatal clinic in a major metropolitan teaching hospital, Melbourne, Victoria. PARTICIPANTS: Pregnant women attending the clinic who agreed to be screened. MAIN OUTCOME MEASURES: Serum 25-hydroxyvitamin D3 (25OHD3) level at first visit to the antenatal clinic. RESULTS: Of 94 women, 82 were screened. Sixty-six women (80%) had 25OHD3 values below the test reference range (22.5-93.8 nmol/L). CONCLUSIONS: Our findings are a cause for concern, because vitamin D deficient women are at risk of bone disease and their children at risk of neonatal hypocalcaemia and rickets.

Is there any value in bimanual pelvic examination as a screening test.

OBJECTIVES: To assess the place of bimanual pelvic examination as a routine procedure in healthy women. METHODS: 2623 healthy, asymptomatic volunteers (mean age, 51 years; range, 25-92 years) underwent pelvic examination as part of an ovarian cancer screening program. The presence of a bulky or fibroid uterus and adnexal abnormality was noted. Pelvic ultrasonography was used to investigate adnexal abnormalities and was also performed in all women with an elevated serum CA-125 antigen level (> 35 U/mL). Laparoscopy or laparotomy was performed as clinically indicated. RESULTS: A bulky or fibroid uterus was detected in 12.9% of women. The prevalence of abnormal adnexal findings was 1.5%, with a positive predictive value for a subsequent diagnosis of benign adnexal abnormality of 22%. The specificity of vaginal examination for malignancy was 99.9%. No ovarian malignancies were identified at initial screening. CONCLUSIONS: This "routine" procedure is undertaken in the belief that it serves a screening purpose. The detection of benign uterine abnormality is of no clear benefit as progression to malignancy is rare. Bimanual pelvic examination is of questionable value as a screening strategy in view of the low incidence of ovarian cancer in healthy women, and the relatively high prevalence (1.5%) of relatively unimportant adnexal abnormalities.