Projects

The surgical management of differences in sex development (DSD) has evolved over the decades with advances in diagnostic methods rendering clarity to the etiopathogenesis, surgical anatomy, natural history, and principles of treatment of various forms of 46,XY DSD. Cumulative insights into intermediate and long-term results of surgical cosmesis, functional outcomes, and gender dysphoria have tempered the surgical strategies with a global moratorium on elective interventions till the age of consent. Besides the pros and cons of early versus late surgery for 46,XY DSD, the narrative elaborates on the indications, surgical principles, timing of surgery, salient details of procedures, and their outcomes. Masculinizing procedures include gonadal surgery, penile reconstruction, surgery for urogenital sinus (UGS) and/or Müllerian remnants, and breast reduction. Likewise, feminizing procedures encompass clitorophallic reduction, surgery for UGS and/or vaginoplasty, gonadectomy, and breast augmentation. Also included are algorithms for surgical management in broad categories of 46,XY DSD and illustrative cases. Surgical management options for children with differences in sex development (DSD) are continually evolving in the light of the changing attitudes and a greater awareness of the psychosocial and ethical issues that are involved in the treatment of these children. Historically, surgical management of the genitals (external genitalia and internal genital ducts) and gonads was aimed to benefit the child physically and psychosocially, yet perceived collateral harm in some has prompted a moratorium on all surgical procedures during childhood, excepting emergent ones. However, both in the developed and developing world, particularly the latter, parents continue to make decisions on surgical options for the young child with DSD to be able to rear the child in the prevalent society. With emerging statutory restrictions and consensus guidelines in this arena, it is important to offer a comprehensive multidisciplinary team (MDT) care through a shared decision-making (SDM) process.[1]

The diagnosis of 46,XY DSD is first established with a detailed clinical evaluation and systematic, directed algorithmic investigations.[2] A select panel of individualized investigations with combinations of genetic studies (including karyotype, fluorescent in situ hybridization, whole-exome sequencing, and androgen receptor [AR] studies), imaging (e.g., ultrasonography and pelvic magnetic resonance imaging), hormonal profile (including luteinizing hormone, follicle-stimulating hormone, and human chorionic gonadotropin-stimulated androgen levels), and additional relatively invasive studies (e.g., genitoscopy, laparoscopy, and gonadal biopsy) narrows the diagnosis to one of the three entities—central hypogonadism (hypothalamic–pituitary origin), a gonadal defect (androgen biosynthesis and conversion defects) or peripheral tissue unresponsiveness (androgen insensitivity). The varied anatomical and physiological issues that are addressed at surgery are related to the role of anti-Müllerian hormone (regression of Müllerian duct), testosterone (development of testis, epididymis, vas deferens, and seminal vesicle) dihydrotestosterone (development of prostate, conversion of urogenital sinus (UGS) to urethra, and development of penis and scrotum) in the prenatal development of internal and external genitalia.

There are compelling arguments for both early and delayed surgery in DSD.[3,4] However, the lack of registries, high-quality evidence, and longitudinal data on the outcomes limits the provision of educational material and informed decision-making [Table 1]. The surgical management is tailored to the assigned sex of rearing and endorsed after detailed deliberations at the MDT.[5] Surgical interventions must suit the sex of rearing, generally male/female, or be held in abeyance till a decision is reached by a legally consenting individual. These may be emergent, semi-emergent, or elective. Emergent surgical procedures are mandatory and aim at creating unobstructed outlets for urinary and/ or genital secretions or preventing permanent disability. Optional elective procedures address issues of gonadal and genital tract preservation, genital and breast cosmesis and/ or desired appearance, voiding, sexuality, and procreation. A calendar of interventions is chalked out for the specific child with the minimum anesthetic exposure, and all interventions are supported by counseling sessions to foster psychosexual well-being. MASCULINIZING GENITOPLASTY IN 46,XY DSD

Patients assigned to or have opted for a male sex of rearing after the review by the MDT are planned for a masculinizing genitoplasty.[6] Hypospadias in DSD tends to be more severe and is associated with micropenis, bifid scrotum, and undescended testis. In addition to the paucity of tissue for reconstruction, hormonal deficiency and tissue responsiveness limit surgical success. The procedures aim at creating cosmetically acceptable and functional external genitalia that allow penetrative intercourse.[7] The principles of surgical correction address varying degrees of discordance between chromosomal sex and external genital phenotype, gonadal position and anatomy, and the development of internal genital ducts—both mesonephric and paramesonephric