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The persistent müllerian duct syndrome is a rare, autosomal recessive disorder, characterized by the persistence of müllerian duct derivatives—uterus and fallopian tubes—in genetic males otherwise normally virilized. We have collected DNA from 69 families with this syndrome. In 45%, a...
The androgen receptor (AR) protein regulates transcription of certain genes. Usually, this activity depends upon a central DNA‐binding domain that permits the binding of androgen–AR complexes to regulatory DNA sequences near or in a target gene. The AR also has a C‐terminal...
The term sex determination refers to the genetic events that bring about male or female gonadal development; sex differentiation to all subsequent morphogenetic and physiological events that establish functional sexuality, sexual dimorphism and the secondary sexual characteristics. Virtually all...
Familial aggregates of the most common disorders of müllerian differentiation in females—Müllerian aplasia, incomplete Müllerian fusion—are best explained on the basis of polygenic/multifactorial inheritance. No information exists on the number and chromosomal location of responsible...
Ovarian failure can result from several different genetic mechanisms—X chromosomal abnormalities, autosomal recessive genes causing various types of XX gonadal dysgenesis, and autosomal dominant genes. The number and precise location of loci on the X are still under investigation, but it is...
Although SRY was first identified 10 years ago, we still know remarkably little about its mode of action or downstream target genes. Recently, potential protein partners have been identified and there has been considerable activity to understand the roles of WT1, SF‐1, DAX‐1 and SOX9 in...
Humans with hypogonadotropic hypogonadism (HH) manifest irreversible pubertal delay, infertility, and low serum levels of follicle‐stimulating hormone (FSH) and luteinizing hormone (LH). Although the genetic basis of this condition is largely unknown, mutations have been identified in...
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