Sexual infantilism

Either your web browser doesn't support Javascript or it is currently turned off. In the latter case, please turn on Javascript support in your web browser and reload this page. Free to read. We identified two mutations in the CYP19 gene responsible for aromatase deficiency in an year-old 46,XX female with ambiguous external genitalia at birth, primary amenorrhea and sexual infantilism, and polycystic ovaries. Subcloning followed by sequencing confirmed that the patient is a compound heterozygote. The results of restriction fragment length polymorphism analysis and direct sequencing of the amplified exon X DNA from the patient's mother indicate maternal inheritance of the RC mutation.
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12.06.2020
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Definition

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Sexual Infantilism - MeSH - NCBI

Table Differential diagnostic features of Delayed Puberty and Sexual Infantilism. Plasma Gonadotropin Levels. LHRH Test:. LH Response.
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Infantilism (physiological disorder)

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Lawson Wilkins, M. There are a number of other conditions which cause failure of sexual maturation in the female. We shall attempt to classify them and shall present a number of cases of different types. As shown in the accompanying table lack of development of the breasts, vagina and uterus and absence of the menarche may result either a from primary ovarian deficiency or b from a failure of the pituitary to produce the gonadotropic hormones which stimulate the maturation of the ovarian follicles. Primary Ovarian Deficiency.
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