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Disorders of sex development: effect of molecular diagnostics

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Disorders of sex development: effect of molecular diagnostics | Nature Reviews Endocrinology

In 46,XY disorders of sexual development DSD patients, several factors may affect psychosexual development, leading to gender identity discrepancy and gender change later in life. Prenatal sexual steroid exposure and external genital virilization are considered to influence human psychosexual development, but their roles not completely understood yet. Psychosexual outcomes gender role, gender identity, and sexual orientation were assessed using questionnaires and psychological test. The Sinnecker score was used for genital virilization measurement. We found a positive association between prenatal androgen exposure and male psychosexual outcomes. Alternatively, prenatal estrogen exposure, age of gonadectomy, and the degree of external genital virilization did not influence any psychosexual outcome. The median age of gender change was 15 years, but most of the patients reported the desire for gender change earlier.

46,XY disorder of sex development (DSD) due to 17β-hydroxysteroid dehydrogenase type 3 deficiency.

In the complete phenotype CAIS , affected individuals present typically female external genitalia at birth, are assigned as female and present psychosexual development in agreement with sex assignment 2. In CAIS, bilateral gonadectomy is necessary either due to inguinal hernia at childhood or to avoid germ cell tumor development 3. The consequence of bilateral gonadectomy is the need of oestrogen replacement as expected for matched-age women.

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