Title: Abnormalities of gonadal determination and differentiation.
Abstract: In the first several weeks of gestation, a variety of bipotential and neutral sexual structures form. These include the bipotential gonadal ridge, a paired set of Wolffian and Mullerian ducts, and the neutral external genitalia.’ With appropriate signals, these structures differentiate to form male or female sex organs.’ The role of the Y chromosome in male sex determination is well established.3-5 The gene on the Y chromosome that is responsible for initiating testis development is called the testis-determining factor (TDF). As discussed earlier, current evidence indicates that the “sex-determining region Y” gene (SRY) is identical to the TDF gene.“,7 The term “gonadal dysgenesis” was coined originally before the advent of karyotype analysis to describe all subjects with female genitalia, normal Mullerian structures, and streak gonads. While many of these subjects had the typical features of Turner syndrome, others had none. The condition of patients without Turner stigmata has been referred to as “pure gonadal dysgenesis”.15,16 When karyotype analysis became available, it was observed that the majority of patients with “gonadal dysgenesis” have a 45,X karyotype or a variant that we now consider part of the spectrum of Turner syndrome.17 Ovarian determination and subsequent steps of sex differentiation are considered to be normal in these subjects. However, subjects with 45,X Turner syndrome have accelerated loss of germ cells and premature degeneration of the ovary.‘*
Publication Year: 1992
Publication Date: 1992-10-01
Language: en
Type: article
Indexed In: ['pubmed']
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Cited By Count: 36
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