PubMed · 15407513
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J SEILER. 1949-11-15. [Intersexuality].. https://doi.org/10.1007/bf02165249
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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.
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The Leydig cell hypoplasia is a rare and well defined form of male pseudohermaphroditism with autosomal recessive inheritance pattern. An inadequate fetal testicular Leydig cell differentiation and, consequently a low androgenic production during intra uterine and post natal periods, result in absence or incomplete virilization in patients with 46,XY karyotype. These patients exhibit a wide clinical spectrum, ranging from complete female external genitalia to male external genital with micropenis, low serum testosterone levels associated with high LH levels. Inactivating mutations of the LH/hCG receptor gene have been identified in affected families in the last decade. However, the low frequency of inactivating mutations in this gene, and the lack of segregation of intragenic polymorphisms among affected members from families with typical phenotype of Leydig cell hypoplasia, suggest the genetic heterogeneity of this condition.