Sonia Grover

The presentation and early diagnosis of the rudimentary uterine horn

OBJECTIVE: The key to successful management of the rudimentary uterine horn is early detection. This review of the literature seeks to illustrate important aspects of diagnosis and management of this anomaly. DATA SOURCES: An English language MEDLINE search from 1966 to 2003 was performed, using the search terms “rudimentary uterine horn,” “accessory horn,” “uterus bicornis unicollis,” “hematometra,” “unicornuate or bicornuate uterus,” and “müllerian anomaly.” References from previously published sources were also obtained. METHODS OF STUDY SELECTION: One hundred thirty letters, case reports, case series, and review articles featuring rudimentary uterine horn were found. Reports before 1966 were excluded because outcomes before the advent of modern diagnostic techniques were not relevant to this study. TABULATION, INTEGRATION, AND RESULTS: Three hundred sixty-six rudimentary horn presentations (210 gynecologic and 156 obstetric) were found. Noncommunicating horns accounted for 92% of cases (95% confidence interval [CI] 88–95%, P < .001), and renal anomaly was found in 36% (95% CI 29–44%). Contrary to the American Fertility Society classification of uterine anomalies, rudimentary horns may occur without a corresponding unicornuate uterus. The mean age of presentation was similar for gynecologic and obstetric presentations (23 and 26 years, 95% CIs 21.2–24.6 and 124.9–27.3 years, respectively). Presentation in the third decade of life or later occurred in 78% of patients (95% CI 70–84%, P < .001). Sensitivity of ultrasound examination for diagnosis was 26% (95% CI 18–36%). Diagnosis before clinical symptoms occurred in 14% (95% CI 7–23%). CONCLUSION: Many functional noncommunicating horns present during or after the third decade of life with acute obstetric uterine rupture. Surgical removal before pregnancy is recommended. Rates of prerupture diagnosis remain disappointingly low.

Bleeding disorders in teenagers presenting with menorrhagia

Objective:  To assess the prevalence of bleeding disorders and establish the clinical variables that are predictive of a bleeding disorder in adolescent women.

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.

A randomised trial of surgical, medical and expectant management of first trimester spontaneous miscarriage

Background:  Medical management and expectant care have been considered possible alternatives to surgical evacuation of the uterus for first trimester spontaneous miscarriage in recent years.

Female Genital Mutilation ‐ Experience of The Royal Women's Hospital, Melbourne

Summary: This study was performed to improve our knowledge and understanding of the needs of women affected by female genital mutilation. We looked at the types of complications of these practices which present to a large metropolitan womens hospital in order to determine how we can appropriately treat and support affected women. This was an observational study of women from countries with a high prevalence of female genital mutilation who presented to the Royal Womens Hospital between October, 1995 and January, 1997. Fifty one patients with a past history of female genital mutilation who were attending the hospital for antenatal or gynaecological care consented to participate in the study. We found that 77.6% of women identified as having had female genital mutilation had undergone infibulation. More than 85% of the women in our study reported a complication of the procedure. The major complications were dyspareunia, apareunia and urinary tract infections; 29.4% of these women required surgery to facilitate intercourse. In our study group there was no difference in Caesarean section rates between the women who had previously delivered in Australia compared with those who had delivered in Africa. Women who have had a female genital mutilation procedure have specific needs for their care which present challenges to both their general practitioners and obstetrician/gynaecologists. These women have significant complications related to their procedure including social and psychosexual problems which require sympathetic management.

Disorders of sex development: Insights from targeted gene sequencing of a large international patient cohort

BackgroundDisorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or phenotypic sex is atypical. Clinical management of DSD is often difficult and currently only 13% of patients receive an accurate clinical genetic diagnosis. To address this we have developed a massively parallel sequencing targeted DSD gene panel which allows us to sequence all 64 known diagnostic DSD genes and candidate genes simultaneously.ResultsWe analyzed DNA from the largest reported international cohort of patients with DSD (278 patients with 46,XY DSD and 48 with 46,XX DSD). Our targeted gene panel compares favorably with other sequencing platforms. We found a total of 28 diagnostic genes that are implicated in DSD, highlighting the genetic spectrum of this disorder. Sequencing revealed 93 previously unreported DSD gene variants. Overall, we identified a likely genetic diagnosis in 43% of patients with 46,XY DSD. In patients with 46,XY disorders of androgen synthesis and action the genetic diagnosis rate reached 60%. Surprisingly, little difference in diagnostic rate was observed between singletons and trios. In many cases our findings are informative as to the likely cause of the DSD, which will facilitate clinical management.ConclusionsOur massively parallel sequencing targeted DSD gene panel represents an economical means of improving the genetic diagnostic capability for patients affected by DSD. Implementation of this panel in a large cohort of patients has expanded our understanding of the underlying genetic etiology of DSD. The inclusion of research candidate genes also provides an invaluable resource for future identification of novel genes.

Screening pregnant women for chlamydia: what are the predictors of infection?

Objectives: To determine the risk factors associated with chlamydial infection in pregnancy and the sensitivity and specificity of these when used for selective screening. Methods: A prospective, cross-sectional study of pregnant women aged 16–25 years attending four major public antenatal services across Melbourne, Australia. Between October 2006 and July 2007, women were approached consecutively and asked to complete a questionnaire and to provide a first-pass urine specimen for Chlamydia trachomatis testing using PCR. Results: Of 1180 eligible women, 1087 were approached and 1044 (88%) consented to participate. Among the 987 women for whom a questionnaire and a definitive diagnostic assay were available, the prevalence of chlamydia was 3.2% (95% CI 1.8 to 5.9). In a multiple logistic regression model, more than one sexual partner in the past year (AOR 11.5; 95% CI 7.1 to 18.5) was associated with chlamydia infection. The use of any antibiotic within 3 months (AOR 0.2; 95% CI 0.1 to 0.6) was associated with a decreased risk of infection. Screening restricted to women who reported more than one sexual partner in the past year would have detected 44% of infections in women aged 16–25 years and would have required only 7% of women to be screened. The addition of those women aged 20 years and under would have required 27% of women to be screened and detection of 72% of infections. Conclusions: Selective chlamydia screening of pregnant women based on risk factors can improve the yield from screening. However, the potential harm of missed infections among excluded women would need to be considered.

Screening for ovarian cancer using serum CA125 and vaginal examination: report on 2550 females

This study was undertaken to assess the effectiveness of using serum CA125 and vaginal examination as a screening test for ovarian cancer in apparently healthy females. Two thousand five hundred and fifty healthy females aged 40 and over were recruited to participate in a screening study involving a questionnaire, serum CA125 measurement and vaginal examination. Females with either an elevated CA125 level or abnormal vaginal examination had a pelvic ultrasound performed as a secondary procedure. The positive predictive values of an elevated serum CA125 level, and a combination of CA125 level measurement and vaginal examination for ovarian cancer, were 1/100 and 1/3, respectively. The specificities of serum CA125 levels, vaginal examination and both in combination were 96.1%, 98.5% and 99.9%, respectively. In postmenopausal females the positive predictive values were improved with CA125 measurement alone, giving a positive predictive value of 1/24. Seventeen females underwent operative procedure as a result of the screening—only one of these was for an ovarian cancer. The combination of serum CA125 measurement and vaginal examination is not an effective screening test in the general population, although in postmenopausal females it does achieve acceptable specificities and positive predictive values.

Fertility in Turner syndrome

There is increasing interest in fertility and use of assisted reproductive technologies for women with Turner syndrome (TS). Current parenting options include adoption, surrogacy, and spontaneous and assisted reproduction. For women with TS, specific risks of pregnancy include higher than usual rates of spontaneous abortion, foetal anomaly, maternal morbidity and mortality. Heterologous fertility assistance using oocytes from related or unrelated donors is an established technique for women with TS. Homologous fertility preservation includes cryopreservation of the patients own gametes prior to the progressive ovarian atresia known to occur: preserving either mature oocytes or ovarian tissue containing primordial follicles. Mature oocyte cryopreservation requires ovarian stimulation and can be performed only in postpubertal individuals, when few women with TS have viable oocytes. Ovarian tissue cryopreservation, however, can be performed in younger girls prior to ovarian atresia – over 30 pregnancies have resulted using this technique, however, none in women with TS. We recommend consideration of homologous fertility preservation techniques in children only within specialized centres, with informed consent using protocols approved by a research or clinical ethics board. It is essential that further research is performed to improve maternal and foetal outcomes for women with TS.

Hormonal Therapies for Individuals with Intersex Conditions

Hormonal therapy forms part of the treatment of every intersex condition. For some conditions, such as salt-wasting congenital adrenal hyperplasia, hormonal replacement therapy is life saving because hormones necessary for survival (cortisol and aldosterone) are replaced. In contrast, other hormones such as androgens or mineralocorticoids are secreted in excessive amounts in congenital adrenal hyperplasia due to an enzyme imbalance, and the role of hormonal therapy is to suppress the unwanted hormone excess by exerting negative feedback. For patients with one of the many causes of hypogonadism, sex hormone replacement therapy may be prescribed to stimulate sexual development: growth of a hypoplastic penis in a young boy, pubertal changes (male or female), psychosexual development, and adult sexual behavior. It has equally important and highly beneficial effects on bone mineral density. Hormonal therapy is also used to treat the unborn child. For the last 20 years, prenatal dexamethasone treatment administered to the pregnant woman has been used to prevent the development of ambiguous genitalia in females with 21-hydroxylase deficiency. Outcome studies show this treatment to be well tolerated and, in general, efficacious.Intersex conditions are, however, difficult to treat because they may intrinsically perturb complex aspects of the person’s gender identity, gender-role behavior, sexual orientation, sexual functioning, and psychologic adjustment. Furthermore, decisions made about the sex of an infant by doctors and parents do not always turn out to be correct; the person may grow up feeling uncertain about his or her gender identity, or worse still, harbor a sense of outrage about their life and treatment experiences. Such a person will have definite views about hormonal therapy when the time comes and skilful counseling will be needed. A vigorous debate about ethical aspects of current medical practices relating to intersex conditions has been waged for the last 7 years between certain patient advocacy organizations and the medical profession, and is expected to continue for some time. The quality of the debate will be improved by evidence. The results of a number of long-term follow-up studies have been published, and more are expected. The published studies show mixed, but mainly encouraging, results.