8 citations
,
September 2005 in “Practical diabetes” PCOS is a condition causing irregular periods, excess male hormones, and infertility, often managed by targeting insulin resistance and specific symptoms.
September 2023 in “Journal of the American Academy of Dermatology” BAP1 mutations are rare in pediatric melanocytic tumors and may develop later in life.
Genetic mutations linked to ectodermal dysplasias and hair loss were identified in Pakistani families.
23 citations
,
December 2013 in “British Journal of Dermatology” A new gene mutation linked to a skin condition was found in a Spanish family.
301 citations
,
May 1998 in “Genes & Development” Ets2 gene is crucial for placental development in mice.
18 citations
,
June 2019 in “Twin research and human genetics” The 25Up study collected extensive data on mental disorders and related factors in Australian twins and siblings to investigate the genetics of psychiatric illnesses.
76 citations
,
July 2009 in “Neuroscience” Neurosteroids like allopregnanolone help control cell death and growth in the developing fetal brain.
2 citations
,
April 2021 in “Reproductive health of woman” Most women with polycystic ovary syndrome (PCOS) have menstrual issues, infertility, acne, and excessive body hair, with the most common type being the non-androgenic phenotype.
19 citations
,
July 2017 in “PLoS ONE” Cell characteristics change with passage numbers, affecting experiment results.
7 citations
,
November 2013 in “Pediatric and Developmental Pathology” Over half of the children had abnormal hair under a microscope, with many having genetic hair conditions.
January 2000 in “Cambio 16” Bcl-2 affects hair growth and pigmentation by controlling cell death.
19 citations
,
August 1999 in “European journal of endocrinology” The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
1 citations
,
April 2008 in “Pigment Cell & Melanoma Research” Foxn1 is essential for hair pigmentation by directing pigment transfer to hair cells.
January 2026 in “JCEM Case Reports” Genetics may play a significant role in gender dysphoria.
13 citations
,
January 2023 in “Annual Review of Cancer Biology” Cancer risk is linked to the balance of mutations and environmental factors, not just the number of mutations.
20 citations
,
June 2012 in “Human Reproduction” Women with polycystic ovarian syndrome are more likely to have cervical insufficiency, especially South Asian and Black women.
December 2022 in “Biochemical and Biophysical Research Communications” HtrA2 activity is crucial for normal hair growth by regulating fat cell development.
1 citations
,
January 2023 in “Journal of Obstetrics and Gynaecology” High DHEA and short cervical length in women with PCOS and recurrent miscarriages may harm pregnancy outcomes.
13 citations
,
August 2018 in “Taiwanese Journal of Obstetrics & Gynecology” AMH is a good marker for diagnosing PCOS, but global standards are needed.
3 citations
,
January 2008 in “Endocrine journal” A new mutation linked to partial Androgen Insensitivity Syndrome and prostate cancer was found in a patient unhappy with their female gender assignment.
32 citations
,
June 2019 in “Frontiers in Endocrinology” Polycystic Ovary Syndrome (PCOS) is common in women with conditions like anovulation, hirsutism, hair loss, and type 2 diabetes, and it can lead to health risks like heart disease, obesity, insulin resistance, and depression. Non-Classic Congenital Adrenal Hyperplasia (NC-CAH) is also discussed.
22 citations
,
October 2017 in “Australian & New Zealand Journal of Obstetrics & Gynaecology” Many young Australian women think they have PCOS, but only a few are diagnosed correctly, causing unnecessary worry.
May 2025 in “Egyptian Journal of Dermatology and Venerology” Certain gene changes and hormone levels are linked to female hair loss.
5 citations
,
May 2011 in “European Journal of Medical Genetics” A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
11 citations
,
January 2013 in “Indian Journal of Endocrinology and Metabolism” A woman with a rare adrenal tumor and hormonal disorder had improved testosterone levels after surgery, but her menstrual irregularities continued.
21 citations
,
April 2004 in “Australasian Journal of Dermatology” A 3-year-old girl has a rare condition causing sparse hair and nail issues, with minimal improvement from treatment.
352 citations
,
January 2006 in “The Journal of Clinical Endocrinology and Metabolism” Most women referred for excess male hormone symptoms had polycystic ovary syndrome (PCOS), with other conditions being less common.
July 2019 in “Journal der Deutschen Dermatologischen Gesellschaft” A mother and daughter have a rare genetic hair loss disorder with no effective treatment.
36 citations
,
March 2014 in “Cell death and differentiation” Disrupting β-catenin signaling in certain cells causes anorectal malformations.
September 2025 in “Science Advances” PADI4 enzyme slows down cell growth in developing hair follicles.