Version May 2024
| Term | Definition |
| Ambiguous genitalia | Refer to entry on "atypical genital appearance" below. |
| Androgen | A natural or synthetic steroid hormone that has "male-type" activity (ie, activates the androgen receptor). |
| Androgen insensitivity syndrome | A condition in which a mutation in the androgen receptor gene causes reduced responsiveness of target tissues to androgens. |
| Atypical genital appearance | External genitalia that do not have a typical male or female appearance. This term is generally preferred over "ambiguous genitalia." |
| Chimerism | A condition in which an individual has cells with distinct genomes as the result of fusion of 2 zygotes (in contrast, refer to entry on mosaicism below). DSD can occur if chimerism results in the presence of a Y chromosome in some cells but not others. |
| Chordee | Ventral curvature of the phallus. |
| Clitoromegaly | A clitoral length/width that is ≥2 standard deviations larger than the mean for age. |
| Clitorophallus | A general, sex-neutral term for the structure that derives from the primitive phallus, which can be a penis, clitoris, or intermediate structure. |
| Congenital adrenal hyperplasia | A group of congenital conditions that disrupts one of the many steps in synthesis of cortisol from cholesterol. |
| Cryptorchidism | Failure of the testicles to descend fully into the scrotum. |
| Differences of sex development (DSD) | Defined in a 2006 consensus statement as "congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical." The word "disorder" is sometimes substituted for "difference." The adjective "sexual" is sometimes used instead of "sex" but can be confusing because it can refer to either biologic sex or the act of sex. The term "differentiation" is sometimes used instead of "development." Though commonly used by clinical providers, the term "DSD" is not universally accepted by patients and support groups (refer to UpToDate content on evaluation of atypical genitalia). |
| Disorders of sex development | Refer to entry on DSD above. |
| Gonadal dysgenesis | Failure of a gonad to develop properly. |
| Gonadal dysgenesis, complete | Gonadal dysgenesis resulting in a complete loss of gonadal function. In XY individuals, it is sometimes called Swyer syndrome. |
| Gonadal dysgenesis, mixed | A situation in which the 2 gonads show different degrees of dysgenesis, eg, a normal or mildly dysgenetic gonad on the right and a streak gonad on the left. The term is sometimes used synonymously with a 45,X/46,XY karyotype, but the term properly refers to the gonads rather than to the sex chromosomes, and the 45,X/46,XY karyotype is associated with a broader range of gonadal phenotypes. |
| Gonadal dysgenesis, partial | Gonadal dysgenesis resulting in partial but not complete loss of gonadal function. |
| Hermaphrodite | A now disfavored term used for individuals who have both male and female gonads. |
| Hypospadias | Position of the urethral meatus at a location other than the tip of the glans penis. |
| Intersex | Having an atypical genital appearance. Some reserve "intersex" as a term for social identity, but others do not make this distinction. The term is preferred by some and disfavored by others. |
| Labioscrotal folds | Primitive structures that give rise to the labia majora, scrotum, or intermediate structure. |
| Micropenis | A penis with a stretched length that is less than 2 standard deviations below the mean for age. |
| Ovotestis | A gonad that has both testicular and ovarian components. This is based on histologic findings of both primordial follicles (ovarian tissue) and seminiferous tubules (testicular tissue). |
| Phenotype | In the context of DSD, often used to refer to the appearance of the external genitalia. |
| Pseudohermaphrodite | A now disfavored term used for individuals who have atypical genital appearance but do not have both male and female gonads. |
| Mosaicism | A condition in which the genetic complement of some cells in the body differs from that of other cells that all derive from a single zygote (in contrast, refer to chimerism above). A DSD occurs and atypical genital appearance may result if the Y chromosome is affected. |
| Sex chromosome DSD | This subtype of DSD is defined by the presence of a sex chromosome complement other than XX or XY. It includes conditions with mosaicism or chimerism affecting the Y chromosome, which may result in atypical genital appearance. The term is sometimes used to include karyotypes that do not result in atypical genitalia, such 45,X (Turner syndrome). |
| Streak gonad | A severely dysgenetic gonad that cannot be identified as a testis or ovary on gross appearance; refer to entry on gonadal dysgenesis, complete. |
| Swyer syndrome | Complete gonadal dysgenesis in an XY individual. |
| Testicular regression syndrome | A condition in which the testes are absent, but the external genitalia have a typical male appearance, indicating that testicular function was intact during genital differentiation in early gestation. This is also known as congenital anorchia or (historically) vanishing testis syndrome. |
| Virilization | Emergence of characteristic male features. When referring to the external genitalia (also called "androgenization" or "masculinization"), these features include growth of the clitorophallus, fusion of the labioscrotal folds, and positioning of the urethral meatus at the tip of the clitorophallus. When referring to changes at puberty or in adulthood, these features include terminal hair growth on the face and chest, deepening of the voice, and increased muscularity. |
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