Reproductive healthcare in adolescents with autism and other developmental disabilities.

BACKGROUND: Adults with developmental disabilities often have less access to reproductive health services than adults without these disabilities. However, little is known about how adolescents with developmental disabilities, including autism, access reproductive healthcare. OBJECTIVE: We aimed to characterize the use of reproductive healthcare services among adolescents with autism and those with other developmental disabilities in comparison with adolescents with typical development. STUDY DESIGN: We conducted a cohort study of a sample of adolescents who were continuously enrolled members of Kaiser Permanente Northern California, an integrated healthcare system, from ages 14 to 18 years. The final analytical sample included 700 adolescents with autism, 836 adolescents with other developmental disabilities, and 2187 typically developing adolescents who sought care between 2000 and 2017. Using the electronic health record, we obtained information on menstrual conditions, the use of obstetrical-gynecologic care, and prescriptions of hormonal contraception. We compared healthcare use between the groups using chi-square tests and covariate-adjusted risk ratios estimated using modified Poisson regression. RESULTS: Adolescents with autism and those with other developmental disabilities were significantly more likely to have diagnoses of menstrual disorders, polycystic ovary syndrome, and premenstrual syndrome than typically developing adolescents. These 2 groups also were less likely than typically developing peers to visit the obstetrician-gynecologist or to use any form of hormonal contraception, including oral contraception, hormonal implants, and intrauterine devices. Adolescents in all 3 groups accessed hormonal contraception most frequently through their primary care provider, followed by an obstetrician-gynecologist. CONCLUSION: Adolescents with autism and those with other developmental disabilities are less likely than their typically developing peers to visit the obstetrician-gynecologist and to use hormonal contraception, suggesting possible care disparities that may persist into adulthood. Efforts to improve access to reproductive healthcare in these populations should target care delivered in both the pediatric and obstetrics-gynecology settings.

Complexities of gender assignment in 17ß-hydroxysteroid dehydrogenase type 3 deficiency: is there a role for early orchiectomy?

BACKGROUND: 17ß-Hydroxysteroid dehydrogenase type-3 (17ßHSD-3) deficiency is a rare cause of 46,XY disorders of sex development. The enzyme converts androstenedione to testosterone, necessary for masculinization of male genitalia in utero. 17ßHSD-3 deficiency is frequently diagnosed late, at puberty, following virilization, with consequent female-to-male gender reassignment in 39-64%. The decision for sex of rearing is difficult, especially if diagnosed in early childhood. Consensus guidelines are equivocal or support male gender assignment. Long-term outcomes data to guide decisions are also lacking; however, in the few cases of early diagnosis and orchiectomy, female gender retention appears more likely.We report two patients with 17ßHSD-3 deficiency, who presented at unusual ages, in whom female gender was chosen. We performed a focused literature review and summary of gender outcomes in 17ßHSD-3 deficiency following early orchiectomy. CASES: Patient A was a phenotypic female who presented at one year of age with bilateral inguinal hernias and external female genitalia. Testes were identified at surgery. The karyotype was 46,XY. She was initially diagnosed with complete androgen insensitivity syndrome; however, androgen receptor mutation analysis was negative. Human chorionic gonadotropin stimulation yielded a low testosterone: androstenedione ratio (0.6, normal >0.8). Genetic testing demonstrated compound heterozygosity for two known mutations of the HSD17B3 gene. She underwent bilateral orchiectomy at two years of age.Patient B was born with female genitalia and virilized at 13 years of age. She did not seek evaluation until 22 years of age. Her karyotype was 46,XY. She had bilateral inguinal testes and low testosterone: androstenedione ratio (0.3). HSD17B3 gene sequencing showed her to be a compound heterozygote for two known mutations. She identified herself as female and underwent bilateral orchiectomy and estrogen replacement therapy. CONCLUSIONS: These two patients highlight the complexities of diagnosis and management in 17ßHSD-3 deficiency. Although existing data are limited, early orchiectomy is likely to result in retention of female gender identity, avoiding the complications related to virilization in adolescence. As such, it is important to pursue a definitive diagnosis to guide clinical decisions, and to have the support and long term follow up with an inter-disciplinary disorders of sex development team.

Update in Müllerian anomalies: diagnosis, management, and outcomes.

PURPOSE OF REVIEW: Müllerian anomalies include a fascinating constellation of congenital malformations. There is significant diversity in anatomic variants and their respective long-term sexual and reproductive outcomes. We review the current controversies in classification and management of vaginal, uterine, and fallopian tube anomalies. RECENT FINDINGS: Comparative trials of preoperative magnetic resonance imaging (MRI) and laparoscopic intraoperative evaluation have demonstrated a moderately well correlated prediction of anatomic description. Three-dimensional ultrasound technology appears to be equivalent to MRI in detecting uterine anomalies; however MRI is a consistently superior method of evaluating the vaginal and cervical anatomy. Despite advances in both modalities, care at an experienced center is most highly associated with an accurate preoperative diagnosis and a decrease in the number of inappropriate surgical procedures.Large case series continue to be the main vehicle by which treatment and surgical management of these unique anomalies are described and recommended. Case reports continue to provide information on novel approaches to improve operative techniques. In the absence of prospective studies, these series provide the only emerging information on the long-term sexual and reproductive function of women with vaginal and uterine anomalies. SUMMARY: Recent developments in three-dimensional ultrasonography and MRI improve our ability to accurately describe and diagnose female reproductive tract anomalies. With the description of new complex malformations, which do not fall into the recognized American Society of Reproductive Medicine, formerly American Fertility Society (AFS) classification system, questions arise regarding embryologic development upon which this classification system is based and support attempts to devise a new, comprehensive classification. Advances in surgical correction have expanded the options for the reconstructive surgeon when approaching a patient with an anomaly of the reproductive tract.

Peritoneal inclusion cysts: a review.

OBJECTIVE: To provide a comprehensive review of peritoneal inclusion cysts in the female patient population. To define the optimal diagnostic modalities and review the medical and surgical options for management, enabling the gynecologist to individualize treatment for patients. DATA SOURCES: We searched the MEDLINE database for articles with keywords "peritoneal inclusion cyst" and "benign (multicystic) mesothelioma." Our search was limited to the English language. All reports included a tissue-confirmed diagnosis, except 1. Case reports and case series with adolescent and adult patients were reviewed. METHOD OF STUDY: We evaluated all studies meeting our criteria for clinical features, histologic criteria for diagnosis, imaging and laboratory studies, and treatment modalities. TABULATION, INTEGRATION, AND RESULTS: Fifty-two descriptive studies and 1 prospective cohort study meet criteria for review. Eleven articles focused on imaging modalities. Nineteen articles depicted histopathology. Eight addressed treatment modalities. CONCLUSION: This is a comprehensive review of peritoneal inclusion cysts. We specifically focus on the method of diagnosis and management. There is no standard algorithm by which the patients are evaluated, treated, or followed up. Peritoneal inclusion cysts have minimal mortality but high morbidity. Diagnosis is made by clinical history, ultrasound imaging, and CA-125 correlation. Magnetic resonance imaging is useful if ultrasound is unclear. Tissue sample is necessary for definitive diagnosis. Prior studies have suggested that cure is only accomplished with surgical resection; however, patients have a 50% risk of recurrence. We suggest that the goal for such a chronic disease should not be cure, but symptomatic relief through individualization of treatment. TARGET AUDIENCE: Obstetricians & Gynecologists, Family Physicians. LEARNING OBJECTIVES: After completion of this article, the reader should be able to summarize imaging characteristics of peritoneal inclusion cysts, explain the epidemiology and risk factors for the development of peritoneal inclusion cysts, and describe possible treatment options for peritoneal inclusion cysts.

Peritoneal inclusion cyst: effects on fertility and antepartum course.

BACKGROUND: Hormone changes are thought to influence the etiology and disease process of peritoneal inclusion cysts. The effects of fertility and pregnancy on preexisting cysts are unknown. CASE: A 29-year-old woman with recurrent peritoneal inclusion cyst and primary infertility conceived spontaneously after hysterosalpingogram. She presented in the first trimester with rapid, symptomatic enlargement of a 22-cm peritoneal inclusion cyst. Ultrasonogram-guided aspiration was performed. The remainder of her pregnancy and postpartum course were uncomplicated. CONCLUSION: The presence of a large peritoneal inclusion cyst does not preclude fertility. Pregnancy, a hyperestrogenic state, together with rising human chorionic gonadotropin is a risk for recurrence or enlargement of a preexisting peritoneal inclusion cyst. After conservative management with cystocentesis, there was no further enlargement as pregnancy progressed.

Etiology of stillbirth at term: a 10-year cohort study.

OBJECTIVE: To examine etiological factors contributing to cases of intrauterine fetal demise in term pregnancies over a 10-year period. METHODS: This was a retrospective cohort analysis of 29 908 term (37(+0) to 41(+6) weeks gestation) infants delivering in a single tertiary-referral university institution over the 10-year period from 1996 to 2005. Cases of stillbirth were identified from a computerized hospital database, and pathological, clinical, and biochemical data were reviewed for all cases. Trends were analyzed using the Cusick test for trend. Categorical data were analyzed using the Fisher's exact test, with the 5% level considered significant. RESULTS: The incidence of intrauterine fetal demise at term was 1.8 per 1000 at-risk pregnancies. There was no significant downward trend in the rate of term stillbirth between 1996 and 2005 (p = 0.0808). Stillbirths were unexplained in 51% of cases, although in many cases a possible etiological factor was identified but not necessarily proven. There was a significant downward trend in the incidence of unexplained term stillbirths at our institution over the 10-year study period (p = 0.0105). Placental/cord factors accounted for 25% of term stillbirths and did not decrease significantly over the study period (p = 0.0953). Almost 50% of term stillbirths occurred in women who registered late or had no antenatal care. However, suboptimal antenatal care was not predictive of differences in either acceptance of perinatal postmortem or successful identification of stillbirth etiology. CONCLUSIONS: The incidence of stillbirth at term is 2 per 1000 term pregnancies and has not changed significantly in the past 10 years. Almost 50% of term stillbirths occurred in women with suboptimal antenatal care. More than half of cases are unexplained, often resulting from an incomplete diagnostic work-up. Despite this, there has been a significant downward trend in the rates of unexplained stillbirth at term. It is imperative that a complete diagnostic work-up is performed in cases of term stillbirth, to minimize the incidence of unexplained stillbirth.