A Critical Review of Clinical Practice Guidelines for Care of Transgender and Gender Diverse Children and Youth for Use by Primary Care Practitioners.

Purpose: To examine and critique international clinical practice guidelines (CPGs) related to transgender and gender diverse children and youth and to assess the applicability of the guidelines to ethical and affirming primary care practice. Methods: A review was conducted to obtain English language clinical guidelines. Guidelines were obtained from electronic databases, medical associations, government agencies, and community organizations. Guidelines were critiqued by all authors using the AGREE II instrument. Results: Nine documents were reviewed. Overall, there was agreement among reviewers that the scope, purpose, and clarity of presentation of the guidelines was carried out well. Areas identified for improvement in all guidelines included clarity/rigor of methodologic development, inclusion of community stakeholders, and transparency of editorial independence. The Endocrine Society Clinical Practice Guideline scored highest overall. Despite lower overall scores, other guidelines were identified as having strengths of practical utility within primary care and/or in the discussion of specific social, ethical, and cultural considerations of transgender care in differing contexts worldwide. Conclusion: The use of specific, high-quality CPGs can support primary care practitioners to provide gender-affirming care to children and youth. Methodologic improvement in the development of these CPGs is needed to ensure the best possible quality of care is being outlined.

Feingold syndome: a rare but important cause of syndromic tracheoesophageal fistula.

Esophageal atresia (EA) and tracheoesophageal fistula (TEF) are common congenital malformations and are associated with additional anomalies in approximately half of cases. Feingold syndrome is an important genetic cause of syndromic EA-TEF to consider in patients with associated microcephaly and digital anomalies. We present a case report of a male infant with EA-TEF, microcephaly, subtle facial dysmorphism, dysplastic kidney, short fifth fingers, second finger clinodactyly, and increased spacing between the first and second toes bilaterally. His clinical presentation was suggestive of Feingold syndrome, and genetic testing of the MYCN gene confirmed the diagnosis. Feingold syndrome is an autosomal dominant condition, and therefore, the diagnosis has important implications for genetic counseling.