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Disorders of Gonadal Development

المؤلف:  Wass, J. A. H., Arlt, W., & Semple, R. K. (Eds.).

المصدر:  Oxford Textbook of Endocrinology and Diabetes

الجزء والصفحة:  3rd edition , p1177-1178

2026-10-07

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46,XX Ovotesticular DSD (Formerly Known as  ‘True Hermaphrodites’) and 46,XX Testicular DSD (‘46,XX Males’)

Rarely, the developing ovary may contain some testicular tissue (Ovotesticular DSD) or may develop as a functioning testis that secretes adequate amounts of testosterone for adequate virilization and AMH for regression of the Müllerian ducts (testicular DSD). The incidence of 46,XX testicular DSD is estimated to be 1 in 20 000. Ovotesticular DSD can be subclassified according to the type and location of the gonads. Lateral cases (20%) have a testis on one side and an ovary on the other. Bilateral cases (30%) have testicular and ovarian tissues present bilaterally as ovotestes. Unilateral cases (50%) have an ovotestis present on one side and a normal ovary or testis present on the other side. In ovotesticular DSD, the initial manifestations are ambiguous genitalia in almost all cases and the internal duct structures display gradations between male and female. There is often a urogenital sinus and a uterus or a hemi- or a rudimentary uterus on the side of the ovary or ovotestis. Breast development will occur in puberty and even menses may occur in a significant proportion when ovarian tissue is present. However, without removal of testicular tissue, these children will also proceed to virilize at puberty. Presence of functional testicular tissue can be investigated by checking AMH or testosterone levels following hCG stimulation. Assessment of functioning ovaries by biochemical markers has not been thoroughly explored and the utility of measuring oestradiol after repeat FSH stimulation or measurement of an ovarian specific marker such as Inhibin A requires further study. Two- thirds of affected children are raised as boys (see section, ‘Sex Assignment in the Affected Newborn’). If the testicular components are removed, serial AMH levels may allow adequate confirmation of complete removal of functioning testicular tissue. In contrast, 46XX testicular DSD is usually associated with a normal male phenotype or a relatively mild abnormality of the male genitalia, such as distal or mid- shaft hypospadias. In adulthood, although testosterone syn thesis is not affected, spermatogenesis is usually severely affected.

ovarian Dysgenesis

Ovarian dysgenesis is most frequently seen in association with sex chromosome aneuploidy such as Turner syndrome and related variants. However, these conditions do not present in infancy with physical abnormalities of sex development.