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Case Report: Mercury exposure and anti-LGI1/Caspr2 autoimmune encephalitis: a case series and literature review on the paradoxical worsening after chelation therapy.

Authors: Huang C, Chen T, Tan G, Li J, Liu L
Journal: Frontiers in immunology
mental health psychology open access

Abstract

Differences of sex development (DSD) encompass a heterogeneous group of congenital conditions in which chromosomal, gonadal, or anatomical sex is atypical, often manifesting at birth or around puberty through ambiguous genitalia, discordant pubertal development, or infertility. The 2005–2006 International Consensus Conference replaced earlier, often stigmatizing terms such as “intersex” and “hermaphroditism” with the umbrella term DSD, emphasizing multidisciplinary, family-centered care, shared decision-making, and long-term outcome evaluation as central pillars of management.[] Subsequent guidelines and reviews have refined diagnostic algorithms, underscored the importance of early yet thoughtful sex assignment, and advocated for care within specialized centers equipped with expertise in pediatric endocrinology, urology, surgery, psychology, and ethics.[] Over the past two decades, outcome research in DSD has broadened to include gender identity, body image, sexual function, fertility potential, and quality of life (QoL) alongside traditional surgical and hormonal endpoints.[] Large European initiatives such as dsd-LIFE and more recent international reviews on long-term outcomes in 46,XX and 46,XY DSD have shown that while many individuals report stable gender identity and satisfactory QoL, a considerable subset experience psychosocial difficulties, sexual dysfunction, and mental health challenges.[] Persistent questions remain regarding the optimal timing and extent of genital surgery, the risk–benefit balance of early feminizing or masculinizing procedures, and the need for systematic, lifelong follow-up. Data from low- and middle-income countries – where sociocultural pressures surrounding binary gender, marriage, and fertility are particularly strong – remain scarce. Early Indian studies on ambiguous genitalia and DSD identified diagnostic delays, limited access to multidisciplinary care, and challenges in sex assignment within the framework of family expectations and cultural norms. Subsequent clinic-based series from dedicated pediatric intersex/DSD clinics described gender assignment patterns, decision-making algorithms, molecular diagnosis, and outcomes of male genitoplasty, providing valuable local evidence to guide clinical practice.[] More recent Indian studies have evaluated long-term psychosocial adjustment, stakeholder perceptions, and adult QoL, highlighting the impact of sociocultural and economic factors on outcomes and care pathways. Despite this progress, robust long-term outcome data from India remain sparse, especially those integrating surgical results, gender trajectories, psychosocial health, and fertility within a single cohort. Many existing reports are restricted to specific etiologies (e.g., 46,XX congenital adrenal hyperplasia [CAH]) or age groups, are retrospective in nature, and include incomplete psychosocial data. Further, there is a growing need to understand how earlier Indian approaches to sex assignment and genitoplasty, now reconsidered in light of international discourse on autonomy and bodily integrity, have translated into adult outcomes in our context.