13 citations
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June 2006 in “Pituitary” A woman with acromegaloidism and normal growth hormone levels had a rare X-Tetrasomy, suggesting a need to study X-chromosome genes for their role in growth and facial development.
October 1984 in “Kidney international” The patient had complex urinary tract issues and ambiguous genitalia, with physical features suggesting a hormonal imbalance.
8 citations
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July 2015 in “Molecular cytogenetics” A complex X chromosome rearrangement can increase the risk of multiple autoimmune diseases.
28 citations
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June 1998 in “Clinical Genetics” Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
7 citations
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April 2000 in “Archives of Pathology & Laboratory Medicine” 98 citations
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July 1983 in “Journal of Steroid Biochemistry” Individuals with this condition often develop male traits and identities at puberty despite being raised as females.
1 citations
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December 2023 in “Curēus” Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
2 citations
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January 2008 in “Oxford University Research Archive (ORA) (University of Oxford)” January 1983 in “Elsevier eBooks” Masculinization in affected individuals occurs gradually after puberty due to hormone changes.
October 2025 in “Journal of the Endocrine Society” Early physical exams are crucial for timely Klinefelter syndrome diagnosis.
1 citations
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January 1986 in “Journal of Steroid Biochemistry” Women with excessive hair growth or polycystic ovary disease may more often carry a gene variant for 21 hydroxylase deficiency.
April 2024 in “Anais Brasileiros de Dermatologia” 54 citations
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November 1995 in “The Journal of Clinical Endocrinology & Metabolism” Females with 5 alpha-reductase-2 deficiency have less body hair, no acne, normal fertility, and delayed menarche.
3 citations
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April 2015 in “AFRICAN JOURNAL OF BIOTECHNOLOGY” Certain genetic markers on the Y-chromosome may influence prostate cancer risk in Iraqi males.
October 1995 in “Pediatric Research”
31 citations
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January 2010 in “GenomeBiology.com (London. Print)” The research concluded that selection significantly shaped the genetic variation of the X chromosome, with certain regions affected by past selective events.
The number of CAG repeats in the androgen receptor gene doesn't significantly affect female pattern hair loss in the Han Chinese population.
1 citations
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October 2022 in “Dermatology practical & conceptual” Isolated patchy heterochromia with pili annulati can occur without other health issues.
2 citations
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March 2016 in “Serbian Journal of Dermatology and Venerology” A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
January 2026 in “Frontiers in Medicine” A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
37 citations
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October 2015 in “European Journal of Human Genetics” Genetic data can predict male-pattern baldness with moderate accuracy, especially for early-onset cases in some European men.
April 2019 in “Journal of the Endocrine Society” A 31-year-old woman was diagnosed with Complete Androgen Insensitivity Syndrome much later than usual, leading to a call for earlier detection and treatment guidelines.
December 2022 in “IntechOpen eBooks” Forensic DNA Phenotyping accurately predicts physical traits and is used in investigations, but needs more diverse population data for confirmation.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” A girl with excessive hair growth had a genetic change on chromosome 17 that reduced the activity of two genes linked to hair growth.
November 2022 in “Journal of the Endocrine Society” A woman's masculine features were caused by a rare ovarian tumor that produced male hormones.
58 citations
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December 2018 in “Nature Communications” Male pattern baldness is mostly inherited, involves many genes, and is linked to other traits like early puberty and strong bones.
2 citations
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July 2022 in “Frontiers in Veterinary Science” A female dog with mixed male and female traits was treated successfully with surgery.