Artúr Beke (ed.)

Genetic background of gynecological diseases

Rare gynecological diseases with genetic origin

Cholesterol synthesis defect - Smith-Lemli-Opitz syndrome (SLOS)

Smith-Lemli-Opitz syndrome (SLOS) is caused by mutations in the DHCR7 gene (7-Dehydrocholesterol Reductase). Affected children have low plasma cholesterol levels and elevated plasma 7-dehydrocholesterol levels. The syndrome is characterized by typical facial features including a short nose with a prominent nasal bridge, blepharoptosis, microcephaly, photosensitivity, intellectual disability, 2-3 toe syndactyly, hypotonia, and ambiguous genitalia (the determination is difficult at birth). Ambiguity in external genitalia is common (71%), with a variety of phenotypes ranging from hypospadias to female external genitalia (despite having normal 46,XY karyotype and SRY sequence). Müllerian-derived structures may also be present. Reported hyponatremia, hyperkalemia, and reduced aldosterone/renin ratio in patients suggest that the deficiency of substrates required for the production of adrenal hormones and steroids causes adrenal insufficiency and ambiguous genitalia. Considering the possibility of SLOS (approximately 1 case per 20,000-60,000 births), it is recommended to monitor cholesterol levels in 46,XY DSD patients.

Genetic background of gynecological diseases

Tartalomjegyzék

Kiadó: Akadémiai Kiadó

Online megjelenés éve: 2024

ISBN: 978 963 664 024 8

Orvostudomány

Our book was written with the intention of filling a gap. It is the work of specialists - university lecturers, researchers, clinicians - who come across the described symptoms in their daily practice.

Many previously published publications deal with the gynecological pathologies discussed in the volume, but from the perspective of genetics as an etiological factor, focusing on the genetic background of pathological conditions and women's diseases, no book has yet been published. Nowadays, science is developing rapidly, and almost all diseases are subjected to genetic testing during research. For this reason, only those pathologies will be presented for which the tests so far have clearly confirmed the genetic background, that is, those pathologies for which the possibility of a genetic cause has arisen, but cannot yet be clearly proven, do not form the material of the book.

We recommend the book primarily to health professionals, geneticists, obstetricians and gynecologists, pedoatric gynecologists, and pediatricians, and those preparing for special exams. Medical students and midwifery students interested in the topic can find important information in it, and it can also be useful for "non-specialists".

Hivatkozás: https://mersz.hu/beke-genetic-background-of-gynecological-diseases//

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