David E. Sandberg

Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting

Turner syndrome affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating multidisciplinary approach to care. Previous guidelines have highlighted this, but numerous important advances have been noted recently. These advances cover all specialty fields involved in the care of girls and women with TS. This paper is based on an international effort that started with exploratory meetings in 2014 in both Europe and the USA, and culminated with a Consensus Meeting held in Cincinnati, Ohio, USA in July 2016. Prior to this meeting, five groups each addressed important areas in TS care: 1) diagnostic and genetic issues, 2) growth and development during childhood and adolescence, 3) congenital and acquired cardiovascular disease, 4) transition and adult care, and 5) other comorbidities and neurocognitive issues. These groups produced proposals for the present guidelines. Additionally, four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with a separate systematic review of the literature. These four questions related to the efficacy and most optimal treatment of short stature, infertility, hypertension, and hormonal replacement therapy. The guidelines project was initiated by the European Society for Endocrinology and the Pediatric Endocrine Society, in collaboration with The European Society for Pediatric Endocrinology, The Endocrine Society, European Society of Human Reproduction and Embryology, The American Heart Association, The Society for Endocrinology, and the European Society of Cardiology. The guideline has been formally endorsed by the European Society for Endocrinology, the Pediatric Endocrine Society, the European Society for Pediatric Endocrinology, the European Society of Human Reproduction and Embryology and the Endocrine Society. Advocacy groups appointed representatives who participated in pre-meeting discussions and in the consensus meeting.

Psychological Aspects of the Treatment of Patients with Disorders of Sex Development

Research on the psychological development of persons with Disorders of Sex Development (DSD) has focused on understanding the influence of atypical sex hormone exposure during steroid-sensitive periods of prenatal brain development on the process of psychosexual differentiation (i.e., gender identity, gender role, and sexual orientation). In contrast, analysis of clinical management strategies has focused on gender assignment and the desirability and timing of genital surgery. This review focuses on the psychological issues that confront clinicians managing the care of persons born with DSD and their families. Particular attention is paid to processes and factors that potentially mediate or moderate psychosocial and psychosexual outcomes within and across developmental stages.

Congenital adrenal hyperplasia: classification of studies employing psychological endpoints.

Psychological outcomes in persons with congenital adrenal hyperplasia (CAH) have received substantial attention. The objectives of this paper were to (1) catalog psychological endpoints assessed in CAH outcome studies and (2) classify the conceptual/theoretical model shaping the research design and interpretation of CAH-related psychological effects. A total of 98 original research studies, published between 1955 and 2009, were categorized based on psychological endpoints examined as well as the research design and conceptual model guiding analysis and interpretation of data. The majority of studies (68%) investigated endpoints related to psychosexual differentiation. The preponderance of studies (76%) examined a direct relationship (i.e., inferring causality) between prenatal androgen exposure and psychological outcomes. Findings are discussed in relation to the observed imbalance between theoretical interest in the role of prenatal androgens in shaping psychosexual differentiation and a broader conceptual model that examines the role of other potential factors in mediating or moderating the influence of CAH pathophysiology on psychological outcomes in both affected females and males. The latter approach offers to identify factors amenable to clinical intervention that enhance both health and quality of life outcomes in CAH as well as other disorders of sex development.

Promoting shared decision making in disorders of sex development (DSD): Decision aids and support tools

Specific complaints and grievances from adult patients with disorders of sex development (DSD), and their advocates center around the lack of information or misinformation they were given about their condition and feeling stigmatized and shamed by the secrecy surrounding their condition and its management. Many also attribute poor sexual function to damaging genital surgery and/or repeated, insensitive genital examinations. These reports suggest the need to reconsider the decision-making process for the treatment of children born with DSD. This paper proposes that shared decision making, an important concept in adult health care, be operationalized for the major decisions commonly encountered in DSD care and facilitated through the utilization of decision aids and support tools. This approach may help patients and their families make informed decisions that are better aligned with their personal values and goals. It may also lead to greater confidence in decision making with greater satisfaction and less regret. A brief review of the past and current approach to DSD decision making is provided, along with a review of shared decision making and decision aids and support tools. A case study explores the need and potential utility of this suggested new approach.

Challenges of Disorders of Sex Development: Diverse Perceptions across Stakeholders

Background/Aims: Disorders of sex development (DSD) are congenital conditions in which chromosomal, gonadal, or anatomic sex development is atypical. Optimal management is patient- and family-centered and delivered by interdisciplinary teams. The present pilot study elicits concerns held by important stakeholders on issues affecting young patients with DSD and their families. Methods: Content from focus groups with expert clinicians (pediatric urologists (n = 7), pediatric endocrinologists (n = 10), mental health professionals (n = 4), DSD patient advocates (n = 4), and interviews with parents of DSD-affected children (newborn to 6 years; n = 11) was coded and content-analyzed to identify health-related quality of life issues. Results: Key stressors varied across stakeholder groups. In general, family-centered issues were noted more than child-centered. In the child-centered domain, providers worried more about physical functioning; family and advocates emphasized gender concerns and body image. In the family-centered domain, parental concerns about medication management outweighed those of providers. Advocates reported more stressors regarding communication/information than other stakeholders. Conclusion: Variability exists across stakeholder groups in the key concerns affecting young children/families with DSD. Interdisciplinary DSD healthcare team development should account for varying perspectives when counseling families and planning treatment.

Should Disorders of Sex Development be an Exclusion Criterion for Gender Identity Disorder in DSM 5

The DSM-IV-TR category of Gender Identity Disorder (GID; American Psychiatric Association, 2000) is limited to persons with typical somatosexual development who experience “strong and persistent cross-gender identification” as well as a “persistent discomfort with his or her sex or sense of inappropriateness in the gender role of that sex.” The presence of a concurrent “physical intersex condition” rules out the unqualified diagnosis. However, a person with atypical somatic sex development experiencing, for example, gender dysphoria, could still be diagnosed with a GID, but with the Not Otherwise Specified (NOS) qualifier. The DSM 5 committee charged with developing the criteria for GID must now decide whether persons born with atypical somatic sex should automatically be excluded from consideration as having GID or be potentially diagnosable. The question addressed here is whether persons born with atypical somatic sex who are experiencing gender dysphoria should potentially be diagnosable using (a) the unqualified criteria for GID or (b) a qualified GID, such as under the NOS category (i.e., continuing the practice of DSM-IV-TR) or should not be diagnosed with GID (qualified or unqualified).

A Noncategorical Approach to the Psychosocial Care of Persons with DSD and Their Families

The 2006 Consensus Statement on Management of Intersex Disorders incorporated all variations in sex development under one superordinate term, disorders of sex development (DSD), and called for care to be delivered by integrated teams that include behavioral health providers. This chapter proposes an integrated team care model that is patient and family centered and attempts to balance the dominating perspective that focuses almost exclusively on gender-related aspects of DSD with one that conceptualizes DSD as a congenital and chronic condition, akin to other pediatric conditions. Ideal DSD team structure and functions are described; emphasis is placed on integrating services and enhancing communication among members of the healthcare team and the family. Evaluation and treatment issues are identified, as well as the need for routine reassessment, given that the importance of particular domains (e.g., sharing information, fertility) varies with developmental stage. A strategy for selecting assessment instruments is outlined, and links are provided to databases of psychometrically robust measures of health-related quality of life as well as narrower domains of function. Because confusion remains, distinctions between DSD and transsexualism are delineated. Finally, barriers to the implementation of the proposed model are considered.

“It Was an Overwhelming Thing”: Parents' Needs After Infant Diagnosis With Congenital Adrenal Hyperplasia

This study characterizes the experiences and expressed needs of parents following diagnosis of their newborn with congenital adrenal hyperplasia (CAH). Six parents (four mothers and two fathers) were interviewed about how they learned about CAH and its management, followed by qualitative data analysis. Coding of transcripts revealed several themes, including health communication problems, a lack of medical home and decision support, and a desire for parent-to-parent social support. Findings have implications for how family-centered health care is delivered following an unexpected newborn diagnosis.

Coming Up Short: Risks of Bias in Assessing Psychological Outcomes in Growth Hormone Therapy for Short Stature

CONTEXT Two often cited assumptions for treating children with GH are that short stature (SS), as an isolated physical characteristic, is associated with psychosocial morbidity and that GH treatment may increase height and improve psychological adjustment. Findings across studies regarding the psychological consequences associated with GH management of children with SS are variable and frequently contradictory. The purpose of this systematic review is to evaluate the degree to which any conclusions about the relative risks or benefits of GH treatment on psychological outcomes can be made based on the published literature. EVIDENCE ACQUISITION Electronic databases were searched for randomized clinical trials and nonrandomized studies, published between 1958-2014, in which GH was administered for management of children with SS and psychosocial, cognitive, academic, or health-related quality of life outcomes were assessed. Methodological quality of each study was assessed using the Cochrane Collaborations tool for assessing risk of bias. EVIDENCE SYNTHESIS Eighty studies were evaluated. No studies were rated as having a low risk of bias, the risk of bias was unclear in seven study outcome areas, and the remaining studies were judged as having a high risk of bias. CONCLUSIONS The high risk of bias present in the majority of the literature on GH treatment effects on psychological outcomes (in particular, lack of blinding) substantially weakens confidence in their results. This may serve to explain the variability of findings for these outcomes across studies.

Parenting Children with Disorders of Sex Development (DSD): A Developmental Perspective Beyond Gender

Advances in therapeutics for specific conditions have contributed to a categorical psychological approach to chronic diseases that affect children. Consensus statements and clinical guidelines recognize stress associated with disorders of sex development (DSD) for patients and their caregivers - yet much remains to be learned concerning the social adjustment, mental health, and quality of life of affected children and their families. We present preliminary data on the psychosocial comorbidities of caregivers of children with DSD, including stigma, isolation, stress, anxiety, and depressive symptomatology. Evidence is offered in support of individualized psychological approaches for families according to such variables as: 1) gender of the caregiver, 2) gender of the affected child and 3) presence of genital ambiguity at birth. Development of feasible, targeted interventions to ameliorate psychosocial comorbidities among caregivers is needed to optimize social adjustment, mental health, and health-related quality of life (HRQoL) for children with DSD.