Advancing Equity in Graduate Medical Education Recruitment Through a Diversity Equity and Inclusion (DEI) Toolkit for Program Directors.

Objectives: To increase diversity and inclusion in graduate medical education (GME), the Accreditation Council for Graduate Medical Education (ACGME) issued new diversity standards requiring programs to engage in practices that focus on systematic recruitment and retention of a diverse workforce of trainees and faculty. The literature on how program directors (PDs) can incorporate and prepare for this standard is limited. Methods: We developed a diversity, equity, and inclusion (DEI) toolkit for PDs as an example of an institutional GME-led effort to promote inclusive recruitment and DEI awareness among residency and fellowship programs at a large academic center. Results: A survey was sent to 80 PDs before the launch of the toolkit and 6 months afterwards with response rates of 27% (22/80) and 97% (78/80), respectively. At baseline, 45% (10/22) anticipated that the DEI toolkit might provide better resources than those currently available to them and 41% (9/22) perceived that the toolkit might improve recruitment outcomes. At 6 months, 63% (49/78) found the toolkit helpful in the 2021-2022 recruitment season. By contrast, 2% (2/78) of PDs did not find the toolkit helpful, and 33% (26/78) said they did not access the toolkit. When asked if a PD changed their program's recruitment practices because of the toolkit, 31% (24/78) responded yes. Programs that changed recruitment practices started to require unconscious bias training for all faculty and residents involved in the residency interviews and ranking. Others worked on creating a standardized scoring rubric for interviews focused on four main domains: Experiences, Attributes, Competencies, and Academic Metrics. Conclusion: There is a need to support PDs in their DEI journey and their work to recruit a diverse workforce in medicine. Utilizing a DEI toolkit is one option to increase DEI knowledge, skills, awareness, and self-efficacy among PDs and can be adopted by other institutions and leaders in academic medicine.

An Online Resident-as-Teacher Curriculum Improves First-Year Residents' Self-Confidence Teaching in the Clinical Learning Environment.

We implemented an online Resident-as-Teacher curriculum for all incoming residents (PGY1s) to provide them with a basic foundation for effective teaching in the clinical learning environment. The curriculum consisted of 5 asynchronous modules delivered via the web from 2017-2021. Prior to starting the course, the PGY1s completed a self-assessment of their teaching ability (pre-test) and then again 7-8 months after completing the course (post-test). Analysis of the paired data from 421 PGY1s showed a statistically significant improvement in the self-ratings of their teaching from pre-test to post-test (p < 0.001). Our findings suggest that an online Resident-as-Teacher curriculum can produce lasting benefits in new residents' self-confidence as educators.

Leveraging Resident-As-Teacher Training for Health Equity Education: A Transformative Approach.

Issue: Resident teachers play an essential role in medical education and can support broader efforts to advance anti-racism and health equity in medicine. The Accreditation Council for Graduate Medical Education requires programs to provide education about health care disparities so residents can contribute to and lead work in this area. However, the literature includes few examples, frameworks, or strategies for preparing residents to develop the knowledge and skills needed to promote health equity, including in their role as clinical teachers. Evidence: In this article, the authors propose leveraging Resident-as-Teacher training to support residents in learning and teaching for health equity. Gorski's conceptualization of equity literacy provides an evidence-based framework for four main abilities (recognizing, responding, redressing, and cultivating/sustaining) residents and medical students can develop through co-learning about health equity in the clinical learning environment. The authors discuss preconditions, example activities, and assessments strategies for effective health equity education. Based on the principles of social learning theory, the authors recommend that Resident-as-Teacher training be part of an institutional strategy to cultivate a community of practice for health equity education. Implications: Incorporating health equity education into Resident-as-Teacher curriculum offers a potentially transformative part of the broader strategy needed to prepare the next generation of physicians to enact anti-racism and advance health equity.

Engaging All Stakeholders to Create a Trusted, Data-Driven, Process Improvement Approach to Addressing Learner Mistreatment.

Problem: Learner mistreatment has remained an ongoing challenge in academic medicine despite accreditation requirements mandating that every program has systems in place to prevent and respond to mistreatment. While efforts vary across institutions, much remains unanswered in the literature about best practices. Additionally, for the foreseeable future, challenges in the learning environment will likely continue and potentially worsen, given the confluence of multiple external stressors including the COVID-19 pandemic, faculty burnout and general political divisiveness in the nation. It is essential, therefore, to focus on indicators of improvement via process metrics such as knowledge and awareness of mistreatment policies and procedures, willingness to report, reasons for not reporting, and satisfaction with having made a report, while simultaneously focusing on the more complex challenge of eliminating mistreatment occurrences. Intervention: We describe the aspects of our mistreatment prevention and response system first implemented in 2017 along with process and outcome measures. The interventions included expanding our policy outlining appropriate conduct in the teacher-learner relationship; a graduated response protocol to allegations of mistreatment with a clear escalation approach; an online reporting system; a graduate medical education exit survey which mirrors the AAMC Graduation Questionnaire on mistreatment; a robust communication and professional development campaign; a comprehensive data dashboard; and a comprehensive summary report dissemination plan. Context: The interventions were implemented at the largest allopathic medical school in the U.S., with nine campuses across the state. The system is available to all learners, including medical students, graduate students, residents, and fellows. Impact: Both institutional and national data sources have informed the continuous improvement strategies. Data from internal reporting systems, institutional surveys, and national data are presented from 2017 to 2021. Findings include an increasing number of incidents reported each year, including confidential reports from students who include their contact information rather than report anonymously, which we view as an indicator of learner trust in the system. Our data also show consistent improvements in learners' awareness of the policy and procedures and satisfaction with having made a report. We also include other data such as the nature of complaints submitted and timeliness of our institutional response. Lessons Learned: We present several lessons learned that may guide other institutions looking to similarly improve their mistreatment systems, such as a close partnership between faculty affairs, diversity affairs, and educational affairs leadership; communication, professional development, and training through multiple venues and with all stakeholders; easily accessible reporting with anonymous and confidential options and the ability to report on behalf of others; policy development guidance; data transparency and dissemination; and trust-building activities and ongoing feedback from learners.

Whole exome sequencing and functional characterization increase diagnostic yield in siblings with a 46, XY difference of sexual development (DSD).

Pathogenic biallelic variants in HSD17B3 result in 17ß-hydroxysteroid dehydrogenase 3 (17ß-HSD3) deficiency, variable disruption of testosterone production, and phenotypic diversity among 46, XY individuals with differences of sexual development (DSDs). We performed quad whole exome sequencing (WES) on two male siblings with microphallus, perineal hypospadias, and bifid scrotum and their unaffected parents. Both male siblings were compound heterozygous for a rare pathogenic HSD17B3 variant (c.239 G > A, p.R80Q) previously identified among individuals with 17ß-HSD3 deficiency and a HSD17B3 variant (c.641A > G, p.E214 G) of uncertain significance. Following WES, the siblings underwent hCG stimulation testing with measurement of testosterone, androstenedione, and dihydrotestosterone which was non-diagnostic. To confirm pathogenicity of the HSD17B3 variants, we performed transient transfection of HEK-293 cells and measured conversion of radiolabeled androstenedione to testosterone. Both HSD17B3 variants decreased conversion of radiolabeled androstenedione to testosterone. As pathogenic HSD17B3 variants are rare causes of 46, XY DSD and hCG stimulation testing may not be diagnostic for 17ß-HSD3 deficiency, WES in 46, XY individuals with DSDs can increase diagnostic yield and identify genomic variants for functional characterization of disruption of testosterone production.

TESTOTOXICOSIS WITH AN EPISODIC COURSE: AN UNUSUAL CASE WITHIN A SERIES.

OBJECTIVE: To describe an unusual case of familial male precocious puberty (FMPP) characterized by periodic remission compared to a series of boys with typical testotoxicosis. METHODS: Medical records of boys with FMPP followed at our institution from 2001-2017 were reviewed. Variables analyzed included age, family history, physical exam, hormone levels, bone age, and treatment. RESULTS: A boy of age 2 years 10 months presented with growth acceleration and masturbatory behaviors. On exam, he had 6-mL testes, an enlarged phallus (10.5 × 2.5 cm), and Tanner 2 pubic hair. Testosterone was 242 ng/dL (normal level, ≤30 ng/dL). Genetic testing revealed an Asp578Gly luteinizing hormone receptor mutation confirming FMPP. Anastrozole 1 mg and bicalutamide 50 mg daily were started. During 7.5 years of follow-up, two periods of spontaneous remission occurred lasting >3 years and 10 months, respectively. Both were characterized by prepubertal testosterone levels (10 to 28 ng/dL) and arrested pubertal development off therapy. Relapses were marked by elevated testosterone, growth acceleration, and pubertal progression. Ten additional boys aged 3.46 ± 0.72 years with FMPP were identified, one of whom also had an Asp578Gly mutation. Average testosterone at presentation was 335 ± 193 ng/dL (range, 146 to 778 ng/dL) and average bone age/chronologic age was 2.02 ± 0.47. All were treated with bicalutamide and anastrozole or letrozole. CONCLUSION: We report a case of intermittent FMPP in contrast to a series of boys with a characteristic clinical course. To our knowledge, a similar case has not previously been reported. Our case expands the clinical spectrum of this rare condition.

CHARACTERIZATION OF SPONTANEOUS AND INDUCED PUBERTY IN GIRLS WITH TURNER SYNDROME.

OBJECTIVE: To characterize puberty in girls with Turner syndrome (TS) and determine whether specific patient characteristics are associated with the timing of menarche. We also sought to compare spontaneous versus induced puberty in these patients. METHODS: Medical records of girls followed in our Pediatric Endocrine clinic for TS from 2007 to 2015 were reviewed. RESULTS: Fifty-three girls were included, of whom 10 (19%) achieved menarche spontaneously and 43 (81%) received hormone replacement therapy (HRT). Of girls receiving HRT, a younger age at estrogen initiation correlated with a longer time to menarche (P = .02), and a mosaic karyotype was associated with a shorter time to menarche (P = .02), whereas no relationship was seen for body mass index, estrogen regimen, or maternal age at menarche. Nineteen girls (44%) receiving HRT had bleeding on estrogen alone at a wide dose range and were more likely to be on transdermal than oral preparations (P = .01). Girls with spontaneous puberty achieved menarche at a younger age (P<.01) and were more likely to have mosaic TS (P = .02). CONCLUSION: Significant variability in the timing of menarche exists among girls with TS. However, age at pubertal induction and karyotype were significantly correlated with age at menarche in our patients. A wide range of estrogen doses is seen in girls who bleed prior to progesterone, suggesting extreme variability in estrogen sensitivity among patients with TS. Girls achieving spontaneous menarche are younger and more likely to have a mosaic karyotype than those with induced menarche. Large-scale prospective studies are needed to confirm these results. ABBREVIATIONS: BMI = body mass index; HRT = hormone replacement therapy; TS = Turner syndrome.

Differential effects of hydrocortisone, prednisone, and dexamethasone on hormonal and pharmacokinetic profiles: a pilot study in children with congenital adrenal hyperplasia.

BACKGROUND: Little is known about the comparative effects of different glucocorticoids on the adrenal and growth hormone (GH) axes in children with congenital adrenal hyperplasia (CAH). We sought to compare the effects of hydrocortisone (HC), prednisone (PDN), and dexamethasone (DEX) in children with classic CAH and to investigate a potential role of pharmacogenetics. METHODS: Subjects were randomly assigned to three sequential 6-week courses of HC, PDN, and DEX, each followed by evaluation of adrenal hormones, IGF-1, GH, and body mass index (BMI). Single nucleotide polymorphism (SNP) analysis of genes in the glucocorticoid pathway was also performed. RESULTS: Nine prepubertal subjects aged 8.1 ± 2.3 years completed the study. Mean ACTH, androstenedione, and 17-hydroxyprogesterone (17-OHP) values were lower following the DEX arm of the study than after subjects received HC (p ≤ 0.016) or PDN (p ≤ 0.002). 17-OHP was also lower after HC than PDN (p < 0.001). There was no difference in IGF-1, GH, or change in BMI. SNP analysis revealed significant associations between hormone concentrations, pharmacokinetic parameters, and variants in several glucocorticoid pathway genes (ABCB1, NR3C1, IP013, GLCCI1). CONCLUSIONS: DEX resulted in marked adrenal suppression suggesting that its potency relative to hydrocortisone and prednisone was underestimated. SNPs conferred significant differences in responses between subjects. Although preliminary, these pilot data suggest that incorporating pharmacogenetics has the potential to eventually lead to targeted therapy in children with CAH.

INCIDENCE OF CENTRAL DIABETES INSIPIDUS IN CHILDREN PRESENTING WITH POLYDIPSIA AND POLYURIA.

OBJECTIVE: Polydipsia and polyuria are common reasons for referral to the Pediatric Endocrine clinic. In the absence of hyperglycemia, diabetes insipidus (DI) should be considered. The objectives of the study were to determine the prevalence of central DI (CDI) in a group of children presenting for evaluation of polydipsia and polyuria, and to determine if predictive features were present in patients in whom the diagnosis of DI was made. METHODS: The study was a retrospective chart review of children presenting to the endocrine clinic with complaints of polydipsia and polyuria over a 5-year period. RESULTS: The charts of 41 patients (mean age 4.9 ± 3.7 years, 28 males) were reviewed. CDI was diagnosed in 8 (20%) children based on abnormal water deprivation test (WDT) results. All but one patient had abnormal magnetic resonance imaging (MRI) findings, the most common being pituitary stalk thickening. Children with DI were older (7.86 ± 4.40 vs. 4.18 ± 3.20 years, P = .01) and had a higher propensity for cold beverages intake and unusual water-seeking behaviors compared to those without DI. Baseline WDT also revealed higher serum sodium (Na) and osmolality. CONCLUSION: The incidence of CDI in children presenting with polydipsia and polyuria is low. Factors associated with higher likelihood of pathology include older age, propensity for cold beverage intake, and higher baseline serum Na and osmolality on a WDT. ABBREVIATIONS: BMI = body mass index CDI = central diabetes insipidus DI = diabetes insipidus Na = sodium WDT = water deprivation test.

Discrepancies between reported self-monitored blood glucose results and point-of-care hemoglobin A1c in children with diabetes: lessons to be learned.

BACKGROUND: The hemoglobin A1c (HbA1c) assay is considered the gold standard for assessing glycemic control in children and adolescents with type 1 diabetes mellitus (T1DM). In recent years, point-of-care (POC) testing has been more commonly used in the outpatient clinic. However, despite its popularity, little is known about the accuracy of the POC methods in children. PATIENTS AND METHODS: In this case series, we describe seven children-six with T1DM and one with type 2 diabetes mellitus-who had major discrepancies between measured POC HbA1c via A1cNow+(®) (Bayer Healthcare Metrika, Sunnyvale, CA) and self-monitored blood glucose records. RESULTS: In six subjects, the discrepancy was explained by the presence of the hemoglobin S trait, and an additional subject had the hemoglobin C trait. CONCLUSIONS: This report demonstrates that as with all laboratory tests, the HbA1c test is subject to limitations, particularly in children with hemoglobin variants. Increased awareness regarding these limitations among healthcare professionals is paramount, especially with the increased use of the HbA1c POC method in the medical community. Failure to recognize these limitations can lead to unnecessary medical, financial, and social interventions that could have profound impact on the patient-doctor relationship.

A comparison of referral patterns to the pediatric endocrine clinic before and after FDA approval of growth hormone for idiopathic short stature.

BACKGROUND: Short stature is a common reason for referral to the pediatric endocrine clinic. In 2003, the US Food and Drug Administration (FDA) approved the use of growth hormone (GH) for the treatment of children with idiopathic short stature (ISS). OBJECTIVE: To explore if this indication changed referrals for short stature (SS). DESIGN/METHODS: A retrospective chart review of children seen for SS in the pediatric endocrine clinic between July 1998 and June 1999 (interval one, n=138) and July 2005-June 2006 (interval two, n=268) was performed. Variables collected included age, gender, height (h), and parental heights. RESULTS: Average height standard deviation score (HT-SDS) was -2.11 +/- 0.9 in interval one and -2.14 +/- 0.83 in interval two (p=ns). No differences in age, gender distribution, relationship between child and parental heights, the proportion of subjects started on GH for ISS or in the HT-SDS of those treated between the two intervals were identified. Nearly half of all children referred in each interval did not meet the technical criteria for short stature. CONCLUSIONS: No differences in referral patterns for SS in our area following FDA approval of GH for ISS were identified. Although referrals appear unchanged, additional investigation of GH prescribing patterns before and after this new indication is needed. Continued education of primary care physicians and the general public regarding the definition of SS and the eligibility for GH therapy should be pursued.

Medical care of girls with Turner Syndrome: where are we lacking?

OBJECTIVE: To characterize the medical care of a large cohort of girls with Turner syndrome with a focus on changes in management since establishment of international consensus guidelines in 2007. METHODS: We reviewed medical records of patients followed up for Turner syndrome between 2000 and 2010. RESULTS: A total of 128 girls aged 13.2 ± 0.5 years were identified. Average age at diagnosis was 4.1 ± 5.1 years. Overall, medical assessments performed included a hearing test in 56%, thyroid screening in 95%, renal ultrasonography in 100%, and echocardiography in 100%. Before 2007, none of the patients had screening performed for celiac disease, dyslipidemia, or liver dysfunction, and none had routine electrocardiography or cardiac magnetic resonance imaging. Since 2007, 63% were screened for celiac disease, 54% for liver abnormalities, and 38% for dyslipidemia. Electrocardiography was performed in 23%, while cardiac magnetic resonance imaging was performed in 39%. Although conjugated equine oral estrogen was the main mode of estrogen replacement, a significant increase was noted in the use of transdermal estrogen during the past 2 years compared with that observed in the earlier interval (78% vs 10%, respectively). CONCLUSIONS: Although changes in medical practice have occurred since establishment of the international Turner syndrome guidelines, screening for associated comorbidities was deficient in greater than 50% of the patients in our study. This is the first study evaluating medical care in a large cohort of pediatric patients with Turner syndrome, and our findings emphasize the need for continual education of all physicians involved in the care of this population.

Combined central precocious puberty and primary gonadal failure after treatment of childhood malignancy in two boys: a diagnostic and therapeutic conundrum.

Central precocious puberty and primary gonadal failure are known sequelae of childhood cancer or its treatment. Here we report two boys with coexistent central precocious puberty and primary gonadal failure after treatment for childhood malignancies.

Newborn screening results in children with central hypothyroidism.

OBJECTIVE: To investigate newborn screening results in children with congenital hypopituitarism, including central hypothyroidism, and to determine whether there were differences between children who had abnormal results and children with normal newborn screening results. STUDY DESIGN: Medical records of children with central hypothyroidism observed in our pediatric endocrinology clinics from 1990 to 2006 were reviewed. RESULTS: Forty-two subjects (22 boys) were identified. Eight children (19%) had a low total thyroxine level (<5.0 mcg/dL) on the newborn screening test. The average total thyroxine level in the remaining 34 subjects was 9.8 +/- 3.4 mcg/dL. Thyrotropin levels were within the reference range in all children. No differences were found in the 2 groups for birth history, jaundice (53% overall), hypoglycemia (36% overall), or micropenis (43% of boys). Fifty-seven percent of children had septo-optic dysplasia, and 98% had multiple pituitary hormone deficiencies. Children with an abnormal newborn screening results were initially examined by a pediatric endocrinologist at an average age of 4.6 +/- 5.0 months, and children with normal newborn screening results were initially examined at an average age of 16.9 +/- 26.7 months (P = .037). CONCLUSIONS: Most children with congenital central hypothyroidism have normal thyroid function at birth. Normal newborn screening results can be falsely reassuring and may contribute to a delay in diagnosis of hypopituitarism despite classic clinical features.

Normal adult height among girls treated for central precocious puberty with gonadotropin-releasing hormone analog therapy.

AIM: To evaluate adult height (AH) among girls with central precocious puberty (CPP) treated with gonadotropin releasing hormone analog (GnRHa) and to assess the impact of posttreatment growth on AH. STUDY DESIGN: Medical records of girls with CPP were reviewed. RESULTS: Twenty-six girls aged 7.2 +/- 2.0 years were identified. There was a significant difference between AH and predicted adult height (PAH) at the initiation of therapy (p = 0.005). Using univariate analysis, the only factor associated with AH was total growth after discontinuation of therapy. Growth after discontinuation of therapy was variable and often greater than expected. Both age and skeletal age at the end of therapy had strong linear relationships with growth after therapy explaining 60% of this growth. CONCLUSION: This report confirms that AH is normal among females with CPP treated in a timely fashion with GnRHa. The lack of predictability of growth after discontinuation of therapy suggests that the decision to stop treatment should be individualized.

Conjugated oral versus transdermal estrogen replacement in girls with Turner syndrome: a pilot comparative study.

BACKGROUND: The optimal route of estrogen replacement in Turner syndrome (TS) is unknown. OBJECTIVE: The objective of the study was to compare conjugated oral vs. transdermal estrogen (TD E2) on bone accrual, uterine growth, pubertal development, IGF-I, and lipids in girls with TS. METHODS: Prepubertal GH-treated girls aged 10 yr or older with TS were eligible. Subjects were randomized to conjugated oral estrogen or TD E2 for 1 yr. Assessments included dual-emission x-ray absorptiometry, pelvic ultrasound, Tanner staging, growth velocity, IGF-I, and lipid profile. RESULTS: Twelve girls (14.0 +/- 1.7 yr) were enrolled. TD E2 resulted in a significantly greater change in spine bone density at 12 months compared with conjugated oral estrogen (bone mineral content 9.0 +/- 0.9 vs. 5.8 +/- 0.9 g, P = 0.04; bone mineral density 0.12 +/- 0.01 vs. 0.06 +/- 0.01 g/cm2, P = 0.004; Z-score 0.7 +/- 0.1 vs. 0.3 +/- 0.1, P = 0.03). Greater increases in uterine length (4.13 +/- 0.39 vs. 1.98 +/- 0.39 cm, P = 0.003) and volume (22.2 +/- 4.4 vs. 4.0 +/- 4.4 ml, P = 0.02) were also found in the TD vs. the oral group at 1 yr. At study end, 66% of subjects in the TD group had a mature uterus vs. 0% in the oral group. No significant differences in other parameters examined were seen. CONCLUSION: In girls with TS, TD E2 resulted in faster bone accrual at the spine and increased uterine growth compared with conjugated oral estrogen. This pilot study provides preliminary information for optimizing estrogen replacement in this population.

A randomized prospective study of insulin pump vs. insulin injection therapy in very young children with type 1 diabetes: 12-month glycemic, BMI, and neurocognitive outcomes.

OBJECTIVE: To compare glycemic control, body mass index (BMI), neurocognitive function, and parenting stress for preschool-aged diabetic children randomized to treatment either with continuous subcutaneous insulin infusion (CSII) or with intensive insulin injection therapy (IIT). METHODS: Children <5 yr of age diagnosed with type 1 diabetes mellitus for at least 12 months were randomized to either CSII (n = 21) or IIT (n = 21) for 6 months. After 6 months, the IIT group began CSII therapy and the CSII group continued on pumps. Hemoglobin A1c (HbA1c) and BMI percent were collected at baseline, 3, 6, 9, and 12 months. Neurocognitive assessments (Developmental Test of Visual-Motor Integration and Stanford-Binet Intelligence Scale: Fourth Edition) were administered to children, and parenting and child behavior assessments (Parenting Stress Index and Child Behavior Checklist) were completed by parents and at baseline, 6, and 12 months. RESULTS: Thirty-five children completed the study. Mean HbA1c decreased significantly over the study period (8.9% +/- 0.6 vs. 8.5% +/- 0.7, p = 0.006). Initiation of CSII resulted in an HbA1c decrease of 0.4% after 3 months (p = 0.002); however, in the CSII first group, the HbA1c at 12 months was not significantly different from study start (8.8% +/- 0.6 vs. 8.5% +/- 0.6; p = 0.4). There were no significant changes in BMI%, neurocognitive, parenting, and child behavior measures between groups. CONCLUSION: Initiation of CSII vs. continuing IIT does not significantly influence HbA1c, BMI, neurocognitive, or parenting stress parameters in a research study setting.

Disorders of sex development.

PURPOSE OF REVIEW: The current management of patients with intersex, now designated as disorders of sex development, is presented in the context of updated etiological and outcome data, refined surgical procedures and the need for a multidisciplinary approach. RECENT FINDINGS: The recently published consensus statement, the primary publication cited herein, includes known genetic causes of disorders of sex development, and provides a perspective for clinical evaluation, and medical, surgical and psychological management. The importance of fetal hormone exposure, genital development, gonadal differentiation and potential of fertility, full disclosure and parental involvement in decisions is crucial. All need a sex assignment; recommendations should be based upon what is judged to be the most likely adult gender identity, diagnosis, genital appearance and surgical options, fertility, cultural pressures, family dynamics and social circumstance, with deference given to psychosocial factors when the outcome is unpredictable. Surgery is discouraged for mild genital variations, but surgery during infancy is recommended for those with major genital ambiguity. SUMMARY: Even with greater understanding of the genetic causes of disorders of sex development, the complex management of these patients must be individualized, considering all aspects, informing as age-appropriate the parents and patient. Further etiology and outcome studies are needed.

Oophorectomy in McCune-Albright syndrome: a case of mistaken identity.

OBJECTIVE: The objective of the study was to determine the incidence of oophorectomy in girls presenting with precocious puberty and vaginal bleeding who are subsequently diagnosed with McCune-Albright syndrome (MAS). STUDY DESIGN: Medical records of girls diagnosed with MAS between 1988 and 2005 were reviewed. Variables analyzed included presenting features, presence of café au lait macules, presence of fibrous dysplasia, radiographic studies, estradiol levels, tumor markers, surgery, and pathology reports. RESULTS: Nine girls with MAS were identified. Average age at initial presentation was 3.2 +/- 2.1 years (range, 0.6-7 years). All patients presented with sudden onset of vaginal bleeding. Eight (88%) also had breast development and 2 (22%) had associated pubic hair. Four (44%) girls underwent salpingo-oophorectomy before the diagnosis of MAS was made. Of these, 3 had café au lait macules on initial presentation, and 3 were later diagnosed with fibrous dysplasia. Surgical pathology revealed benign ovarian cysts in all 4 patients. CONCLUSION: Unnecessary oophorectomy is common in girls with MAS who are taken to the operating room for a presumed ovarian tumor. This highlights the need for increased awareness of MAS among pediatricians, pediatric surgeons, and emergency room physicians. Distinguishing features, which can be helpful in differentiating these 2 conditions, are often present.