Roshanak Mansouri

State of the art review in gonadal dysgenesis: challenges in diagnosis and management

Gonadal dysgenesis, a condition in which gonadal development is interrupted leading to gonadal dysfunction, is a unique subset of disorders of sexual development (DSD) that encompasses a wide spectrum of phenotypes ranging from normally virilized males to slightly undervirilized males, ambiguous phenotype, and normal phenotypic females. It presents specific challenges in diagnostic work-up and management. In XY gonadal dysgenesis, the presence of a Y chromosome or Y-chromosome material renders the patient at increased risk for developing gonadal malignancy. No universally accepted guidelines exist for identifying the risk of developing a malignancy or for determining either the timing or necessity of performing a gonadectomy in patients with XY gonadal dysgenesis. Our goal was to evaluate the literature and develop evidence-based medicine guidelines with respect to the diagnostic work-up and management of patients with XY gonadal dysgenesis. We reviewed the published literature and used the Grading of Recommendation, Assessment, Development, and Evaluation (GRADE) system when appropriate to grade the evidence and to provide recommendations for the diagnostic work-up, malignancy risk stratification, timing or necessity of gonadectomy, role of gonadal biopsy, and ethical considerations for performing a gonadectomy. Individualized health care is needed for patients with XY gonadal dysgenesis, and the decisions regarding gonadectomy should be tailored to each patient based on the underlying diagnosis and risk of malignancy. Our recommendations, based on the evidence available, add an important component to the diagnostic and management armament of physicians who treat patients with these conditions.

A Multicenter Survey of Contraceptive Knowledge among Adolescents in North America

STUDY OBJECTIVE To assess knowledge about contraceptive efficacy and side effects in an adolescent population seen in Pediatric and Adolescent Gynecology referral centers. DESIGN This is a multisite cross-sectional survey study. A 23-question survey assessing knowledge of contraception and demographic information was administered. Data analysis was performed using descriptive statistics, simple paired t tests, and chi-square analyses using SAS 9.3. SETTING Pediatric and Adolescent Gynecology clinics in 4 tertiary care centers. The study was conducted in 3 institutions in the United States and 1 institution in Canada. PARTICIPANTS A convenience sample of 354 female patients aged 10-24 y seeking reproductive healthcare at participating institutions. INTERVENTIONS None MAIN OUTCOME MEASURES The percentage of correct answers to questions assessing general knowledge about contraception, familiarity with different contraceptive methods, and comparison of results between study sites. RESULTS The mean percentage of correct answers among all participants was 55.8% ± 17%. Younger participants (age 10-13 years) scored significantly lower than their older counterparts (49%, 55%, and 60% respectively, P < .05). There was no correlation between score and ethnicity or location of the participating site. Subjects reporting the internet as a source of information, those who were sexually active, and those familiar with long acting reversible contraceptives scored significantly higher. Of all contraceptive methods, participants were least likely to have heard of etonogestrel implants (18%), rhythm method/natural family planning (28%), and IUDs (32%). CONCLUSION Adolescents and young adults performed poorly overall demonstrating both the lack of overall knowledge regarding methods of contraception and misinformation about side effects.

Establishing thromboelastography with platelet-function analyzer reference ranges and other measures in healthy term pregnant women.

OBJECTIVE The diagnosis of coagulopathy cannot always be performed at point of care. Thromboelastography (TEG) and the platelet-function analyzer (PFA-100), have emerged as reliable means for coagulation analysis. However, their reliable utility in pregnancy remains to be determined. We sought to establish reference values with concomitant determination of other known coagulation measures in nonlaboring gravidae in an effort to report the mean and variance of multiple testing modalities. STUDY DESIGN Fifty-nine term, nonlaboring, pregnant women without comorbidities were enrolled, either at presentation for scheduled delivery or at presentation to triage for a non-labor-related indication. TEG, PFA-100, and complete coagulation measures of the overall hemostatic function (including prothrombin time, activated partial thromboplastin time, fibrinogen, protein C, protein S, von Willebrand factor antigen, ristocetin cofactor activity, and ADAMTS-13) were performed. Prior investigations of TEG and PFA-100 parameters in normal gravidae were reviewed, and pooled means and standard deviations (as a measure of variance) were calculated. RESULTS TEG and PFA-100 parameters were significantly different among pregnant gravidae compared with nonpregnant reference ranges, and varied in association with other measures of the coagulation system. Our results and the pooled results reflect a hypercoagulable state. CONCLUSION Our data suggest that TEG values are significantly different in term, nonlaboring, healthy gravidae compared with nonpregnant reference values. Pooled means and standard deviations shown here may be considered for reference.

Postoperative Course and Complications after Pull-through Vaginoplasty for Distal Vaginal Atresia

STUDY OBJECTIVE To report the usual postoperative course and complications after pull-through vaginoplasty for isolated distal vaginal atresia. DESIGN, SETTING, AND PARTICIPANTS Retrospective chart review at Texas Childrens Hospital of all patients who were diagnosed with isolated distal vaginal atresia and underwent pull-through vaginoplasty during the study time frame. INTERVENTIONS None. MAIN OUTCOME MEASURES Postoperative complications such as vaginal stenosis or infection and postoperative vaginal diameter. RESULTS Sixteen patients were identified and charts were reviewed. Patients were initially evaluated by pelvic magnetic resonance imaging and found to have distended hematometrocolpos with distal vaginal atresia. All patients underwent pull-through vaginoplasty with similar operative techniques. The average distance from the perineum to the level of the obstruction was 1.84 ± 1.2 cm. Two patients, both with obstructions at greater than 3 cm, experienced stricture formation postoperatively. Four patients (25%) experienced postoperative vaginitis. One patient (6.25%) experienced a postoperative urinary tract infection. Two groups (3 cm or less versus greater than 3 cm) were compared, and the presence of stricture was statistically different based on mean centimeters from perineum prior to pull-through vaginoplasty (P = .038). CONCLUSIONS Distal vaginal atresia is managed with pull-through vaginoplasty. Atresias that extend greater than 3 cm from the perineum are at increased risk for vaginal stricture formation and should be followed to monitor for their formation. Other complications are infrequent and minor.

Regression of Adenomyosis on Magnetic Resonance Imaging after a Course of Hormonal Suppression in Adolescents: A Case Series

STUDY OBJECTIVE To demonstrate that adenomyosis is a rare cause of dysmenorrhea or chronic pelvic pain (CPP) in the adolescent population that can be identified with magnetic resonance imaging (MRI) and to report resolution of adenomyosis by MRI after a course of hormonal suppression in 4 adolescents. DESIGN, SETTING, AND PARTICIPANTS Retrospective case series of 4 adolescents with adenomyosis on pelvic MRI at Texas Childrens Hospital. INTERVENTIONS Continuous oral contraceptive (COC) therapy or leuprolide acetate. MAIN OUTCOME MEASURES Lesions on pelvic MRI after treatment. METHODS We reviewed medical records of 4 adolescents with CPP and adenomyosis on T2-weighted pelvic MRI. All patients had initial diagnostic pelvic MRI and then definitive hormonal intervention. Repeat imaging was obtained after a symptom-free interval. RESULTS Patient ages ranged from 12 to 16 years. One patient had resolution of symptoms with COC therapy. MRI performed 3 years later showed no adenomyosis. Three patients failed COC therapy. All were symptomatically improved after therapy with a gonadotropin-releasing hormone agonist. Follow-up MRI performed at intervals between 6 months and 3 years showed resolution of adenomyosis. CONCLUSION MRI can raise suspicion for the diagnosis of adenomyosis in adolescents with refractory CPP. Subsequent MRI can show regression of lesions after symptom resolution with hormonal therapy.

Gynecologic findings in Goltz syndrome: A case series.

There is limited information available related to the gynecologic findings in Goltz syndrome. We report exclusively on external genitalia findings in 17 girls with a known diagnosis of focal dermal hypoplasia. This is the largest series to date. Some of our findings have been reported previously; however, some novel features including short perineum body not previously mentioned are noted as well. We recommend referral to a pediatric gynecologist for early evaluation of the reproductive tract as this can have an impact on the future fertility of these girls.

A Case of Obstructed Hemivagina with Ectopic Ureter Leading to Severe Hydrocolpos and Contralateral Renal Outflow Tract Obstruction in a Neonate

BACKGROUND Renal and Müllerian anomalies are frequently associated. Young age at presentation can present challenges in diagnosis and management. We report a case with an unusual presentation and management of this association in the neonatal period. CASE A 2-day-old girl had hydronephrosis with a large pelvic fluid collection. Magnetic resonance imaging of the pelvis demonstrated right hydronephrosis and uterine didelphys with an obstructed left hemivagina with hydrocolpos. A tube vaginostomy was used to decompress the vagina. Fluid was consistent with urine from an ectopic ureteral implantation from a dysgenetic left kidney, which was removed. SUMMARY AND CONCLUSION For obstructed hemivagina in a newborn, expanding fluid collections may be addressed with a drain to avoid mass effect and to aid in the diagnosis. Resection of the vaginal obstruction is performed when the patient is older. A nonfunctional kidney can be removed to eliminate fluid accumulation in the obstructed space.