A new nomenclature has been developed to describe conditions formerly known as "intersex." In this new nomenclature, the designation, Disorders of Sex Development (DSDs), has been proposed to replace the word "intersex" and avoid the use of the term hermaphrodite.1,2 DSDs are defined as congenital conditions in which there is inconsistency between chromosomal, gonadal, and/or anatomical sex. This classification includes not only conditions with ambiguous external genitalia, but also those conditions without ambiguity in which there is atypical gonadal or sex chromosome development. This system (Table 8-1) allows the incorporation of new information and more precise diagnostic labeling. The primary clinical advantage is to be able to use information obtained early in diagnostic evaluation—particularly karyotype and phenotype—to guide further etiological evaluation and management.
Table 8-1. Nomenclature: Disorders of Sex Differentiation |Favorite Table|Download (.pdf)
Table 8-1. Nomenclature: Disorders of Sex Differentiation
|DSD||46,XY DSD||46,XX DSD|
|45,X Turner syndrome||Aberrant testicular development||Aberrant ovarian development|
|47,XXY Klinefelter syndrome||Disorders of androgen synthesis or action||Disorders of androgen excess|
|45,X/46,XY Mixed gonadal dysgenesis||Disorders of MIH synthesis or action||Vaginal or uterine atresia|
|46,XX/46,XY Chimeric, ovotesticular||Other||Other|
Diagnostic categories are listed in Table 8-2, but some conditions do not obviously fit into a single specific diagnostic category or may well fit into more than one category, such as forms of gonadal dysgenesis that may have a 46,XY, 46,XX, or 45,X/46,XY karyotype.
Table 8-2. Examples of Diagnoses using DSD Classification1 |Favorite Table|Download (.pdf)
Table 8-2. Examples of Diagnoses using DSD Classification1
|A. XY DSD|
1. Disorders of testicular development
a. Complete gonadal dysgenesis (Swyer syndrome)
b. Partial gonadal dysgenesis
c. Gonadal regression syndrome
d. Ovotesticular DSD
2. Disorders in androgen synthesis or action
a. Androgen biosynthesis defects
i. 5α-reductase deficiency
ii. 17-hydroxysteroid dehydrogenase deficiency
iii. StAR mutations
b. Defects in androgen action
i. Partial androgen insensitivity
ii. Complete androgen insensitivity
c. LH receptor defects (Leydig cell aplasia/hypoplasia)
d. Disorders of AMH (MIH) and AMH receptors (persistent Müllerian duct syndrome
3. General categories
a. Hypospadias not associated with hormone defect
b. Cloacal exstrophy
|B. 46,XX DSD|
1. Disorders of gonadal (ovarian) development
a. Ovotesticular DSD
b. SRY+, dup SOX9 testicular DSD
c. Gonadal dysgenesis
2. Androgen excess
a. Fetal adrenal
i. 21-hydroxylase deficiency
ii. 11-hydroxylase deficiency
i. Aromatase deficiency
ii. Cytochrome P450 oxidoreductase deficiency
3. General categories
a. Cloacal exstrophy
b. Vaginal atresia (Mayer-Rokitansky-Küster-Hauser Syndrome)
c. MURCS Association (Müllerian hypoplasia/aplasia, renal agenesis, and cervicothoracic somite abnormalities)
|C. Sex chromosome DSD|
1. 45,X – Turner syndrome and variants
2. 47,XXY – Klinefelter syndrome and variants
3. 45,X/46,XY – Mixed gonadal dysgenesis, ovotesticular DSD...
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