Daniel E. Shumer

Initial Clinical Guidelines for Co-Occurring Autism Spectrum Disorder and Gender Dysphoria or Incongruence in Adolescents

Evidence indicates an overrepresentation of youth with co-occurring autism spectrum disorders (ASD) and gender dysphoria (GD). The clinical assessment and treatment of adolescents with this co-occurrence is often complex, related to the developmental aspects of ASD. There are no guidelines for clinical care when ASD and GD co-occur; however, there are clinicians and researchers experienced in this co-occurrence. This study develops initial clinical consensus guidelines for the assessment and care of adolescents with co-occurring ASD and GD, from the best clinical practices of current experts in the field. Expert participants were identified through a comprehensive international search process and invited to participate in a two-stage Delphi procedure to form clinical consensus statements. The Delphi Method is a well-studied research methodology for obtaining consensus among experts to define appropriate clinical care. Of 30 potential experts identified, 22 met criteria as expert in co-occurring ASD and GD youth and participated. Textual data divided into the following data nodes: guidelines for assessment; guidelines for treatment; six primary clinical/psychosocial challenges: social functioning, medical treatments and medical safety, risk of victimization/safety, school, and transition to adulthood issues (i.e., employment and romantic relationships). With a cutoff of 75% consensus for inclusion, identified experts produced a set of initial guidelines for clinical care. Primary themes include the importance of assessment for GD in ASD, and vice versa, as well as an extended diagnostic period, often with overlap/blurring of treatment and assessment.

Current management of gender identity disorder in childhood and adolescence: guidelines, barriers and areas of controversy.

Purpose of reviewThe approach to gender identity disorder (GID) in childhood and adolescence has been rapidly evolving and is in a state of flux. In an effort to form management recommendations on the basis of the available literature, The Endocrine Society published clinical practice guidelines in 2009. The guidelines recommend against sex role change in prepubertal children, but they recommend the use of gonadotropin-releasing hormone (GnRH) agonists to suppress puberty in adolescence, and the use of cross-sex hormones starting around age 16 for eligible patients. In actual practice, the approach to GID is quite variable due to continued lack of consensus and specific barriers to treatment that are unique to GID. Recent findingsRecent literature has focused on the mental health approach to prepubertal children with GID and short-term outcomes using pubertal suppression and cross-sex steroids in adolescents with GID. SummaryThis review will describe the literature published since the release of The Endocrine Society guidelines regarding the management of GID in both children and adolescents.

Severe hypercalcaemia due to subcutaneous fat necrosis: presentation, management and complications

Objective Subcutaneous fat necrosis (SCFN) is a rare form of panniculitis in infants that generally occurs following birth trauma, meconium aspiration, or therapeutic cooling. Severe hypercalcaemia occurs in a subset of patients, but data on its presentation, management and outcomes are limited. This report details the clinical course and complications of infants treated for severe hypercalcaemia (peak serum calcium ≥3.0 mmol/L) due to SCFN. Design Chart review of all infants with SCFN seen at a single paediatric centre over a 13-year period. Patients Seven infants with SCFN developed severe hypercalcaemia, with median peak serum calcium 4.1 mmol/L (range 3.3–5.1). Results Severe hypercalcaemia occurred before 6 weeks of age, and was asymptomatic in 3/7 patients (43%). Most patients were treated with intravenous hydration, furosemide, glucocorticoids and low-calcium formula, which restored normocalcaemia in a median of 9 days (range 2–42). Fever developed during treatment in 4/7 infants (57%): two patients had bacterial infections and two had no infectious source identified. Nephrocalcinosis was present in 5/6 patients (83%) who were evaluated by renal ultrasound. Nephrocalcinosis failed to resolve in all cases over a median follow-up of 20 months (range 8–48), but no renal dysfunction was observed. Eosinophilia, which has not been reported previously in SCFN, was present in 6/7 patients (86%). Conclusions In this largest series to date of infants with severe hypercalcaemia due to SCFN, novel findings include the common occurrence of fever and a high incidence of persistent nephrocalcinosis without evidence of adverse renal outcomes.

Evaluation of Asperger Syndrome in Youth Presenting to a Gender Dysphoria Clinic

PURPOSE There is evolving evidence that children and adolescents with gender dysphoria have higher-than-expected rates of autism spectrum disorder (ASD), yet clinical data on ASD among youth with gender dysphoria remain limited, particularly in North America. This report aims to fill this gap. METHODS We conducted a retrospective review of patient chart data from 39 consecutive youth ages 8 to 20 years (mean age 15.8 years, natal male: n = 22, natal female: n = 17) presenting for evaluation at a multidisciplinary gender clinic in a large U.S. pediatric hospital from 2007 to 2011 to evaluate the prevalence of ASD in this patient population. RESULTS Overall, 23.1% of patients (9/39) presenting with gender dysphoria had possible, likely, or very likely Asperger syndrome as measured by the Asperger Syndrome Diagnostic Scale (ASDS). CONCLUSION These findings are consistent with growing evidence supporting increased prevalence of ASD in gender dysphoric children. To guide provision of optimal clinical care and therapeutic intervention, routine assessment of ASD is recommended in youth presenting for gender dysphoria.

Acquired Hypothyroidism in an Infant Related to Excessive Maternal Iodine Intake: Food for Thought

Submitted for publication January 14, 2013 Accepted for publication March 6, 2013 From 1Boston Children’s Hospital, Division of Endocrinology, Boston, Massachusetts; 2Case Western Reserve University School of Medicine, Cleveland, Ohio; 3Boston University School of Medicine, Division of Endocrinology, Diabetes, and Nutrition, Boston, Massachusetts. Address correspondence to Dr. Daniel Shumer, Boston Children’s Hospital, Division of Endocrinology, 333 Longwood Avenue 6th Floor, Boston, MA 02115. E-mail: Daniel.shumer@childrens.harvard.edu. Published as a Rapid Electronic Article in Press at http://www.endocrine practice.org on March 19, 2013. DOI:10.4158/EP13017.CO To purchase reprints of this article, please visit: www.aace.com/reprints. Copyright

Transgender and Gender Nonconforming Adolescent Care: Psychosocial and Medical Considerations

Purpose of review Transgender individuals display incongruence between their assigned birth sex and their current gender identity, and may identify as male, female, or being elsewhere on the gender spectrum. Gender nonconformity describes an individual whose gender identity, role, or expression is not typical for individuals in a given assigned sex category. This update highlights recent literature pertaining to the psychosocial and medical care of transgender and gender nonconforming (TGN) adolescents with applications for the general practitioner. Recent findings The psychological risks and outcomes of TGN adolescents are being more widely recognized. Moreover, there is increasing evidence that social and medical gender transition reduces gender dysphoria, defined as distress that accompanies the incongruence between ones birth sex and identified gender. Unfortunately, lack of education about TGN adolescents in medical training persists. Summary Recent literature highlights increased health risks in TGN adolescents and improved outcomes following gender dysphoria treatment. It is important for clinicians to become familiar with the range of treatment options and referral resources available to TGN adolescents in order to provide optimal and welcoming care to all adolescents.

Advances in the Care of Transgender Children and Adolescents

Daniel E. Shumer, MD, MPH*, Natalie J. Nokoff, MD, Norman P. Spack, MD Division of Pediatric Endocrinology, Department of Pediatrics and Communicable Diseases, University of Michigan Health Systems, University of Michigan, 1500 East Medical Center Drive, Ann Arbor, MI 48109-5175, USA; Division of Pediatric Endocrinology, Department of Pediatrics, University of Colorado School of Medicine, 13123 East 16th Avenue, Aurora, CO 80045, USA; Endocrine Division, Boston Children’s Hospital, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115, USA

Disorders of Sex Development: Pediatric Psychology and the Genital Exam

Objective To provide suggestions for clinical care of youth with disorders of sex development (DSD) and their families, by drawing on preexisting pediatric psychology literature with a particular focus on child sexual abuse (CSA) genital exams. Method Relevant peer-reviewed papers published since 1990 in the CSA literature were systematically reviewed, as well as an illustrative sample of general pediatric psychology papers. Results Empirical research from the CSA literature provided information on prevalence of distress and the impact of provider behavior, the importance of preparation, and proposed interventions. Expert recommendations from CSA literature and general findings gleaned from pediatric psychology also address these issues. Conclusions Psychological findings in the CSA pediatric population suggest that fears and anxieties are not universal and can be linked to a number of variables. Based on this review, we make a number of recommendations for potential interventions for youth with DSD and their families, emphasizing the need for further clinical research.

Psychological profile of the first sample of transgender youth presenting for medical intervention in a U.S. pediatric gender center

The purpose of this study was to describe the common psychological concerns of the first group of transgender youth to seek medical interventions in the first U.S. interdisciplinary pediatric gender clinic. The data reported were obtained during the psychological evaluations required by the clinic’s protocol. Participants included 56 gender dysphoric youth, aged 8.9 to 17.9, who were largely Caucasian. Data were obtained via archival chart review. Standard descriptive statistics were used to characterize the distribution of each measure. Student t tests were used to compare mean levels between genders, and Pearson correlation coefficients were used to assess the association of each measure with age, parent and child agreement, and the correlation between measures. Findings revealed that most mean scores fell in the “average” range; however, the percentage of patients with scores in the clinical range was notable for several variables. In terms of gender differences, transgender girls revealed more “worry” than transgender boys. Further, older youth experienced poorer self-competence, higher levels of anxiety, and decreased happiness and satisfaction than the younger patients. The results provide further evidence of the resiliency of a significant number of transgender youth, as well as the severity of mental health concerns for others. New to the existing literature are the results showing older transgender teenagers as more distressed, supporting the clinical recommendation to consider earlier medical intervention for appropriate youth, and to always incorporate mental health support and assessment.

The Role of Assent in the Treatment of Transgender Adolescents

ABSTRACT The authors present a case of a transgender adolescent with a verbal developmental delay. The case highlights important ethical issues concerning consent and assent in treatment of adolescent patients with pubertal suppression and cross-sex hormone therapy.