The Effect of the Rate of Increase of Estrogen Replacement Therapy on Bone Mineral Density Accrual in Young Patients with Turner Syndrome.

BACKGROUND: Turner syndrome (TS) is caused by partial/complete X-chromosome monosomy with variable phenotypes, characterized by hypogonadism and short stature. To achieve pubertal changes, up to 50%-79% of patients with TS require estrogen replacement therapy (ERT), and 80% have low bone mineral density (BMD). Studies show that pubertal delays are associated with decreased BMD. Currently, guidelines suggest that ERT start at 12 years, increasing slowly, simulating pubertal progression. Many studies show that ERT increases BMD in adolescents with TS, but uncertainty remains as to how the rate of increase in ERT affects BMD. METHODS: Institutional review board approval was obtained from our institution for this retrospective chart review from 1991 to 2020. Charts were requested for the database using ICD 9-10 codes for TS and patients undergoing dual-energy X-ray absorptiometry. Biometric data and medical and treatment histories were extracted from charts. Multilevel random effects models were constructed to assess the time-dependent associations between ERT and bone density parameters. The primary independent variable of interest was the rate at which patients went from initiating ERT to reaching final doses. The primary dependent variables measured were total body BMD (tbBMD) and corresponding z-scores, calculated using dual-energy X-ray absorptiometry techniques. Analyses were done with SAS software (version 9.4, Cary, NC). RESULTS: Twenty-eight patients met the inclusion criteria. The mean age at TS diagnosis was 6.9 years; 8 patients had monosomy X, 16 had mosaic karyotypes, and 4 had unknown karyotypes. The average age for starting hormone replacement therapy was 14.1 years. Thirteen patients had spontaneous pubertal onset before starting hormone replacement therapy. tbBMD increased significantly with age (P = .03). However, change in BMD by age did not vary between patients who reached final adult doses of ERT within 0-2.5 years compared with patients who took 2.5-5.5 years (P = .7). Patients who took 2.5-5.5 years to reach final adult doses of ERT had a more negative trend in z-scores (-2.144) in comparison with patients who took 0-2.5 years (-1.776), although this difference did not reach statistical significance (P = .15). Future larger studies are needed to better understand the relationship between duration of ERT use and tbBMD. CONCLUSION: BMD in adolescents with TS increases with age. Neither absolute tbBMD values nor tbBMD z-scores increased faster when ERT doses were maximized within 2.5 years. This study identified a cohort of children under 12 years with TS who had not had any ERT or BMD measurements, a potential population for future larger prospective studies.

Adnexal Torsion Due to Borderline Mucinous Tumor of the Gonad in a Prepubertal Girl with Mixed Gonadal Dysgenesis (45,X/46,XY) and a Turner Phenotype.

BACKGROUND: Turner syndrome (TS) is a sex chromosome condition characterized by complete or partial loss of the X chromosome. Patients with mixed gonadal dysgenesis (45,X/46,XY) and a Turner phenotype are predisposed to gonadoblastoma with malignant transformation. CASE: We present the case of a TS patient with 45,X/46,XY with 2 episodes of left adnexal torsion (AT). Biopsies during detorsion showed benign mucinous cystadenoma. Pathology following bilateral gonadectomy revealed a left gonad with mucinous borderline tumor and right gonad with gonadoblastoma, both of which have malignant potential. SUMMARY AND CONCLUSION: Gonadectomy is recommended in XY gonadal dysgenesis to decrease risk of malignant transformation from gonadoblastoma. Although rare in pediatric patients, ovarian malignancies have been identified among AT cases. To our knowledge, we present the first case of AT due to borderline ovarian mucinous tumor of the ovary and contralateral gonadoblastoma in a patient with mixed gonadal dysgenesis (45,X/46,XY) and a Turner phenotype.

From education to action: Development and evaluation of a student-directed service learning program.

PURPOSE: Service learning consists of service activities that respond to community-identified concerns, active learning about the population being served, and self-reflecting on the experience. The Service Learning Program (SLP) is a novel, student-led, longitudinal volunteering experience designed to address social determinants of health (SDOH) education in the undergraduate medical school curriculum. In this program, medical students complete requirements in three domains of service, education, and self-reflection over the span of one academic year. METHODS AND MATERIALS: Participating students are sent surveys prior to and after a year of participation in SLP, which are aimed to measure changes in their perceived knowledge, attitudes, and skills in multiple domains related to service learning and social determinants of health. RESULTS: Over the course of the 2019-2020 year, 110 students who participated in SLP responded to both pre- and post-surveys. These students reported significant improvements in their confidence in various knowledge and skills related to SDOH, such as identifying vulnerable populations and assessing community needs. They also were more likely to report that learning about social determinants of health was 'very important' after participating the program. CONCLUSIONS: Medical students participating in a longitudinal service learning program focused on SDOH can acquire knowledge and skills that will empower them to understand, advocate, and care for underserved populations as future physicians. This program provides a model for integrating service learning into undergraduate medical education.

Rates of Intrauterine Device Expulsion Among Adolescents and Young Women.

STUDY OBJECTIVE: The objective of our study was to determine the rate of intrauterine device (IUD) expulsion and risk factors for expulsion among adolescents and young adults. DESIGN: Retrospective chart review. SETTING: IUD insertions were performed at a single children's hospital. PARTICIPANTS: Eligible adolescent and young adult patients who underwent IUD insertion between August 2009 and March 2019. INTERVENTIONS: IUD insertion. MAIN OUTCOME MEASURES: Primary outcome was the incidence of IUD expulsion in adolescents and young women. Secondary outcomes were risk factors for IUD expulsion including heavy menstrual bleeding, abnormal uterine bleeding (AUB), anemia, or a bleeding disorder diagnosis. RESULTS: Six hundred forty-two eligible patients underwent IUD insertion. The incidence of first IUD expulsion in this population was 58/642 (9.03%). Among those who chose to have a second IUD placed (n = 29), 8/29 (27.6%) had a second expulsion. Patients who expelled their IUD were more likely to have a history of AUB, heavy menstrual bleeding, anemia, or a bleeding disorder. When controlled for body mass index and age at insertion, history of AUB and anemia remained significant risks for IUD expulsion. CONCLUSION: This study similarly showed a higher risk of primary and secondary IUD expulsion in adolescents and young women. A history of AUB, anemia, bleeding disorder, and elevated body mass index are associated with higher risk for IUD expulsion. This population should be counseled that these conditions might place them at higher risk for expulsion.

Pulmonary Embolism After Vaginal Delivery in a Fontan Patient.

The Fontan procedure was created to address the mixing of pulmonary and systemic venous return in patients with a single functional ventricle. The patient in this case with a Fontan repair experienced multiple pulmonary emboli 10 days post-partum. We outline management and recommendations when treating these patients. (Level of Difficulty: Beginner.).