Neonatal Sex Assignment in Disorders of Sex Development: A Philosophical Introspection

Abstract

Management of ambiguous genitalia is highly controversial. This condition was known previously as intersex and presently as disorders of sex development (DSD). There is no consensus regarding the choice, timing and method of sex assignment in neonates with DSD. Consensus conferences could not unify the views of various stakeholders and third parties. This article philosophically examines the nature and origin of such controversies. Misconception, bias and conflicting priorities are identified as the three cardinal sources of controversies. Conceptual duality of sexes, confused notion of sex and gender, bias towards penetrative intercourse, conflict between utopian ideals and reality, unwillingness to compromise are identified as perpetuators of controversies. Suggestions are made regarding sex assignment in various types of DSD based on the understanding of published literature and the author's personal experience.

Keywords: Ambiguous genitalia; Androgen insensitivity syndrome; Congenital adrenal hyperplasia; Disorders of sex development; Gender dysphoria; Gonadal dysgenesis; Intersex; Sex reassignment.

Table 1

Figure 1: Appearance of external genitalia is no guide to assignment of sex in neonates. Despite similar appearance of the external genitalia the diagnosis and management in each of them are significantly different. (1A). 5-alpha reductase deficiency (46XY, bilateral testes) requires male assignment as the penis will enlarge at puberty; (1B) Severe hypospadias is otherwise an established male in all aspects; (1C). High risk of cancer in mixed gonadal dysgenesis (left testis and right ovary) requires early gonadectomy and female sex assignment; (1D). Congenital adrenal hyperplasia (46XX, bilateral ovaries) is usually assigned to female sex but severe androgen imprinting may require male assignment; (1E). Complete androgen insensitivity syndrome (46XY, bilateral testes) requires female sex assignment due to poor androgenization of body and brain; gonadectomy in them may be postponed until puberty to facilitate development of secondary sexual characters.

Figure 2: Sex assignment may differ in the same condition according to the degree of cerebral androgen imprinting. Degree of virilization of external genitalia may, but not necessarily, predict the degree of androgen imprinting of brain. (2A) Congenital adrenal hyperplasia (CAH) with minimal virilization (Prader score 2) may predict poor androgen imprinting and hence female assignment is appropriate. (2B). CAH with severe virilization (Prader score 4) are often dissatisfied with female sex assignment. It is probably due to strong androgen imprinting and hence male assignment is appropriate in this subset.