PubMed · 9166106
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A P Themmen, J W Martens, H G Brunner. 1997. Gonadotropin receptor mutations.. https://doi.org/10.1677/joe.0.1530179
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Different forms of intersexuality (Disorders of Sex Development, DSD) are described (congenital adrenal hyperplasia, androgen insensitivity, disorders of androgen biosynthesis, gonadal dysgenesis). Treatment interventions for individuals with ambiguous genitalia and untypical sex development are discussed with respect to medical and psychosocial aspects considering the consensus paper on the management of subjects with intersexuality. The role of gender identity, gender role and sexual orientation are presented as well as problems of disclosure and gender change. Further research is needed to evaluate the optimal treatment procedures.
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The prenatal diagnosis of ambiguous genitalia requires a complete examination of the fetal anatomy to rule out any other congenital defects and the analysis of the fetal genotype. In addition any additional information on the anatomy of the internal genitalia, i.e. the presence or absence of fetal uterus, may be relevant to the prenatal evaluation of female pseudo-hermaphroditism. The recent development of 3D and 4D ultrasound technology may be relevant to a more clearly identification of the fetal uterus. Volume contrast imaging (VCI) provides high contrast images by the realization of thick slices of the region of interest (ROI) thereby providing a clearer picture of the fetal uterus. The multiplanar mode may also facilitate the differentiation of the fetal uterus from the other intra-pelvic organs by offering images in three perpendicular planes. Finally, the tomographic ultrasound imaging (TUI) mode offers the ability to display on a single panel numerous 2-dimensional sections, as obtained using computed tomography imaging.