TLDR Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
This document reported a new case of Ambras syndrome (AS), a rare form of congenital hypertrichosis, in a newborn girl with a paracentric inversion on chromosome 8 (q12; q22). This was the tenth documented case of AS and the second associated with a chromosome 8 inversion, but the first to evaluate peripheral androgens, which were found to be normal. The girl exhibited abundant dark hair on her face, ears, shoulders, and arms, with fine, lightly pigmented hair elsewhere, along with dysmorphic facial features. The study highlighted that the chromosomal inversion was not linked to changes in androgen plasma levels, suggesting that the genetic cause of AS remained unknown.
11 citations
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September 1990 in “Clinical Endocrinology” Girls with prepubertal simple hypertrichosis have higher dihydrotestosterone (DHT) levels.
2 citations
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January 2013 in “Elsevier eBooks” The document explains the genetic causes and characteristics of inherited hair disorders.
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September 2010 in “Annual Review of Genomics and Human Genetics” The document concludes that understanding the genes and pathways involved in hair growth is crucial for developing treatments for hair diseases.
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October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
5 citations
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April 2014 in “International Journal of Pediatric Endocrinology” Prepubertal girls with hypertrichosis have more sensitive androgen receptors, leading to increased body hair growth.
