Xiomara M. Santos

The use of combined ultrasound and magnetic resonance imaging in the detection of fetal anomalies.

To compare the referral diagnosis based on prenatal ultrasound to diagnoses made following combined ultrasound (US) and magnetic resonance imaging (MRI) evaluation at the Texas Childrens Fetal Center (TCFC) and postnatal diagnosis.

The Utility of Ultrasound and Magnetic Resonance Imaging versus Surgery for the Characterization of Müllerian Anomalies in the Pediatric and Adolescent Population

STUDY OBJECTIVE To evaluate the utility of transabdominal ultrasound and magnetic resonance imaging in the evaluation of American Society for Reproductive Medicine (†)(ASRM)-classified müllerian anomalies compared to surgical findings in the pediatric and adolescent population. DESIGN Retrospective chart review. SETTING Tertiary academic center. PARTICIPANTS Thirty-eight patients with müllerian anomalies seen in our pediatric and adolescent gynecology clinic were identified both on the basis of ICD-9 codes and having magnetic resonance imaging at Texas Childrens Hospital between 2004 and 2009. INTERVENTIONS None. MAIN OUTCOMES MEASURE Correlation among transabdominal ultrasound and magnetic resonance imaging findings with surgical findings. RESULTS Mean age was 12.2 (± 4.1) years. Twenty-eight patients underwent magnetic resonance imaging and required surgical intervention, and 88.5% demonstrated correlative consistency with surgical findings. Twenty-two patients underwent ultrasound, magnetic resonance imaging, and surgery, which revealed consistency among ultrasound and surgical findings (59.1%) and consistency among magnetic resonance imaging and surgical findings (90.9%). In ASRM diagnoses evaluated by magnetic resonance imaging, surgical findings correlated in 92% (Pearson 0.89). Overall, 55.2% of patients had a renal malformation. CONCLUSIONS Magnetic resonance imaging is the gold standard imaging modality for müllerian anomalies and is an effective technique for noninvasive evaluation and accurate classification of the type of anomaly in the pediatric and adolescent population. Magnetic resonance imaging should be considered as an adjunct to transabdominal ultrasound to evaluate müllerian anomalies.

Diagnosis and Management of Precocious Puberty in Atypical Presentations of McCune-Albright Syndrome: A Case Series Review

BACKGROUND McCune-Albright syndrome is a rare syndrome, classically defined as the triad of precocious puberty, fibrous dysplasia of bone, and café au lait lesions. Partial or atypical presentations of McCune-Albright syndrome, with only one or two of the classic symptoms, have been described in the literature and remain particularly challenging due to lack of diagnostic phenotype. In these patients, the utility of analysis of mutations in the gene of the α subunit of the stimulatory G-protein is limited and so the diagnosis is often based on clinical judgment. Three atypical cases of suspected McCune-Albright syndrome with gonadotropin-independent precocious puberty are presented. CASES Case #1: A 5-year-old female presented with painlesss vaginal bleeding and was found to have café au lait lesions. She was diagnosed with gonadotropin independent precocious puberty with eventual progression to gonadotropin dependent precocious puberty which was successfully treated with both letrozole and gonadotropin-releasing hormone agonist therapy. Case #2: A 3-year-old female presented with painless vaginal bleeding and was found to have café au lait lesions. She was diagnosed with gonadotropin independent precocious puberty and was successfully treated with letrozole. Case #3: A 5-year-old female presented with fibrous dysplasia and was found to have evidence of uterine and ovarian enlargement on ultrasound. She was diagnosed with gonadotropin-independent precocious puberty and was successfully treated with letrozole. SUMMARY AND CONCLUSION Although different in presentation, all three atypical cases of suspected McCune-Albright syndrome with gonadotropin-independent precocious puberty were successfully treated with aromatase inhibitors. This small case series shows the utility and efficacy of aromatase inhibitors in the setting of atypical cases of suspected MAS with gonadotropin-independent precocious puberty.

Knowledge of Sexually Transmitted Infections Among Adolescents in the Houston Area Presenting for Reproductive Healthcare at Texas Children's Hospital

OBJECTIVE Studies indicate a deficiency in knowledge of sexually transmitted infections (STIs) among adolescents, yet adolescents comprise 25% of the sexually active (SA) population and account for 48% of STIs acquired annually. This survey assesses knowledge of STIs among adolescent females. The goal of this study was to assess knowledge of STIs and how it relates to safe sex behaviors and educational access. DESIGN A confidential 10-question STI survey was administered to a convenience sample of female adolescents. Data analysis included descriptive statistics, chi-square analysis, and linear regression analysis. SETTING Texas Childrens Hospital Pediatric and Adolescent Gynecology Clinic. INTERVENTIONS None. PARTICIPANTS Seventy-five female participants between the ages of 10-21 years. MAIN OUTCOME MEASURES Age, sexual activity, educational access, preferred methods of risk reduction and questions answered correctly on the STI survey. RESULTS The mean age of participants was 14.9 ± 2.4 years; mean age of menarche was 10.9 ± 2.9 years. Based on survey responses, all adolescents demonstrated similar knowledge of specific STIs regardless of demographic factors. However, middle and late adolescent groups had increased awareness of STIs. SA participants (36%) were more likely to choose 2 or more methods of risk reduction compared to non-SA participants (P = 0.014). There was no correlation between educational access and preferred methods of risk reduction even though 92% of respondents reported receiving STI education from school, parents, or peers. CONCLUSIONS Current efforts at STI education are not effective. Different approaches to STI education are necessary to increase knowledge and motivate adolescents to reduce high risk behaviors.

Obstructed Hemivagina with Ipsilateral Renal Anomaly

The association of obstructed hemivagina with ipisilateral renal anomaly (OHVIRA) is a well-described entity. While there has been an increased familiarity with this disorder, the exact incidence of OHVIRA is unknown. Our aim was to review the available literature on this topic, look at common presentations, and uncommon presentations. This condition is a well-described entity but requires careful evaluation, because unique presentations do occur. Diagnostic challenges include time of presentation and symptoms associated with presentation. Surgical challenges include microperforation of the hemivaginal septum, pelvic inflammatory disease, thick septum, or high septum. Each of these must be managed carefully. Although a solitary kidney is frequently thought to be associated with OHVIRA, dysplastic kidneys, pelvic kidneys, or ectopic ureters can occur. Prompt and accurate diagnosis is essential for relief of symptoms and prevention of complications. To minimize problems associated with delayed diagnosis, magnetic resonance imaging evaluation is recommended along with referral to a center with expertise in these conditions.

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.

Laparoscopic Outcomes for Pelvic Pathology in Children and Adolescents among Patients Presenting to the Pediatric and Adolescent Gynecology Service

STUDY OBJECTIVE The aim of this study was to evaluate surgical indications, outcomes, and common pelvic pathologies presenting to the Pediatric and Adolescent Gynecology service in premenarcheal (PMF) and menarcheal females (MF) undergoing laparoscopic surgery. DESIGN A retrospective chart review. SETTING An academic childrens hospital. PARTICIPANTS Females under 21 years of age, excluding pregnant patients, who underwent laparoscopic surgery for a gynecologic indication presenting to the Pediatric and Adolescent Gynecology service at a single childrens hospital between July 2007 and January 2012, identified by CPT codes. MAIN OUTCOME MEASURES Pertinent patient demographics, indication for surgery, anesthesia time, estimated blood loss, surgical instruments used, intra-operative findings, surgical pathology, complications, length of stay, and concerns at follow-up appointment. Descriptive statistics and chi-square analyses of data were performed using SAS 9.3. RESULTS Of 158 cases meeting inclusion criteria, 33 patients were PMF (mean age 8.6 ± 3.2 years) and 125 patients were MF (mean age 14.7 ± 2.3 years). Acute abdominal pain was the most common surgical indication in both groups, but was significantly more likely to be the surgical indication in the PMF group (62.7% vs. 52.8%, P = .006). Adnexal torsion was more likely to be present in the PMF group than in the MF group (66.7% vs. 27.2%, P < .0001). No complications were reported in the PMF group. Two minor complications were reported in the MF group. CONCLUSION Minimally invasive surgical techniques represent a safe and well-tolerated method for treating a wide variety of pelvic pathology in both younger children and older adolescent females. For physicians evaluating premenarcheal females with acute-onset abdominal pain, adnexal torsion should be prominent among the differential diagnoses.

A genome-wide screen for copy number alterations in an adolescent pilot cohort with müllerian anomalies.

OBJECTIVE To examine whether pathogenic copy number changes (CNCs) can be identified in deoxyribonucleic acid from females with different classes of müllerian anomalies. DESIGN We conducted array-based copy number variant (CNV) analysis using an oligonucleotide array from deoxyribonucleic acid in 12 adolescent females with various müllerian anomalies. SETTING University-affiliated tertiary care institution. PATIENT(S) Twenty adolescent females with clinically confirmed müllerian anomalies. INTERVENTION(S) Array-based CNV analysis. MAIN OUTCOME MEASURE(S) Copy number changes and/or regions with absence of heterozygosity. RESULT(S) A total of 192 CNVs identified in these samples were previously annotated as polymorphic. Three CNCs that were identified in regions with minimal to no overlap with annotated polymorphisms failed significance criteria with detailed inspection. One subject harbored a 5.1-Mb region of absence of heterozygosity at Xq23 that is of unknown significance. CONCLUSION(S) We did not identify pathogenic CNCs in this small pilot cohort of patients with various müllerian anomalies, but larger studies will be needed to further investigate whether CNCs are associated with all classes of müllerian anomalies.

Crohn's Disease and Gynecologic Manifestations in Young Women

STUDY OBJECTIVE The purpose of this study was to describe the reproductive and gynecological concerns of young women with Crohns disease. DESIGN, SETTING, AND PARTICIPANTS Retrospective chart review of young women with Crohns disease and gynecologic concerns at a large, urban tertiary childrens hospital. INTERVENTIONS None. MAIN OUTCOME MEASURES Documentation of abnormal bleeding, pelvic pain, genital fistula, ulcer, or abscess. RESULTS Most of the patients (85.7%) had menstrual concerns reported as abnormal bleeding patterns or chronic pelvic pain. Genital complaints (fistula, ulcer, or abscess) were present in 75% of patients who ultimately required immune modulators or antibiotics to control their Crohns disease. Genital complaints were present in only 1 of 3 patients who did not have a history of immune modulator use for Crohns disease related flare. CONCLUSION There is a paucity of information available on gynecological concerns occurring in patients with Crohns disease. Providers should be aware of gynecological manifestations that might appear concurrently with Crohns colitis, including vulvovaginal pain, vulvar infections, rectovaginal or rectovestibular fistulas, pelvic pain, and menstrual irregularities.

Recurrent Menorrhagia in an Adolescent with a Platelet Secretion Defect

BACKGROUND Although von Willebrand disease is the most common inherited bleeding disorder, platelet function disorders are less well recognized as a cause of bleeding. We report a case of menorrhagia caused by an unsuspected platelet secretion defect. CASE A 13-year-old Asian female, with unknown family history, presented with menorrhagia not responsive to intravenous conjugated estrogens, requiring transfusion of 7 units of packed red blood cells. Initial screening tests for bleeding disorders were normal; however, due to high clinical suspicion, further specific testing with platelet aggregometry was performed, which revealed a platelet secretion defect. SUMMARY AND CONCLUSION The prevalence of platelet secretion defects in adolescents with menorrhagia is unknown, but may be higher than currently recognized. When screening tests are normal, yet suspicion remains high for an underlying hemostatic disorder, platelet aggregometry must be performed.