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.
14 citations
,
December 2016 in “Sexual Medicine” Finasteride side effects in young men may be linked to specific gene variations.
6 citations
,
February 2013 in “Medical Oncology” Certain genetic variants increase the risk of resistance to hormone therapy in prostate cancer patients.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
June 2022 in “Biomedical reports” STK11 gene variations do not predict how well metformin will work for PCOS, but may affect hair loss and excess hair growth.
6 citations
,
April 2018 in “Transplantation proceedings” A woman experienced severe side effects from a drug due to a specific genetic variation, suggesting genetic testing could prevent such risks.
17 citations
,
October 2006 in “Molecular and Cellular Endocrinology” The L457(3.43)R mutation in the human lutropin receptor causes increased activity and hormone insensitivity, leading to precocious puberty.
13 citations
,
January 2018 in “Yonsei Medical Journal” A specific gene mutation causes Olmsted syndrome.
8 citations
,
January 2015 in “Genetics and Molecular Research” Certain gene variations increase the risk of alopecia areata in Koreans.
6 citations
,
August 2024 in “BMC Ophthalmology” New genetic variants linked to albinism were found in Pakistani families.
29 citations
,
January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
The scant hair in snthr-1Bao mice is likely caused by a deletion affecting the Plcd1 gene.
14 citations
,
January 2013 in “Hormone and Metabolic Research” The severity of symptoms in nonclassical congenital adrenal hyperplasia is not determined by CYP21A2 gene variations.
4 citations
,
August 2013 in “Chinese Medical Journal” A specific gene mutation in KRT86 is linked to hair disorder in a Chinese Han family.
5 citations
,
July 2022 in “Orphanet journal of rare diseases” RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
The number of CAG repeats in the androgen receptor gene doesn't significantly affect female pattern hair loss in the Han Chinese population.
42 citations
,
September 2007 in “The Journal of Clinical Endocrinology and Metabolism” The research found that polycystic ovary syndrome (PCOS) has two distinct types, with one having more severe hormone and insulin issues.
35 citations
,
August 2006 in “Molecular genetics and metabolism” Tissue-specific variation in mutant load complicates genetic counseling and prenatal diagnosis.
May 2025 in “Egyptian Journal of Dermatology and Venerology” Certain gene changes and hormone levels are linked to female hair loss.
October 2023 in “Journal of the Endocrine Society” Machine learning identified three unique subtypes of androgen excess in women with PCOS, each with different metabolic risks.
46 citations
,
December 1992 in “The Journal of Steroid Biochemistry and Molecular Biology” Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.
3 citations
,
February 2020 in “The journal of gene medicine” A mutation in the HR gene causes a rare form of irreversible hair loss in two Kashmiri families. Whole exome sequencing is effective for finding such mutations.
4 citations
,
September 2013 in “Expert Review of Endocrinology & Metabolism” Different types of polycystic ovary syndrome show varying levels of insulin resistance, with the 'PHO' type being the most insulin resistant.
15 citations
,
August 2010 in “Fertility and sterility” Metformin works better for adolescent girls with PCOS who have certain genetic variations.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” Robertsonian translocation can cause recurrent miscarriages.
1 citations
,
April 2024 in “Science Advances” Female cuckoo color differences are linked to their unique genes and help avoid male harassment.
60 citations
,
August 2008 in “Human molecular genetics online/Human molecular genetics” A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
41 citations
,
June 2022 in “Biomedicines” PCOS should be reclassified into two types based on hormone levels and symptoms.
47 citations
,
August 2014 in “The Journal of Clinical Endocrinology and Metabolism” The research suggests that the global distribution of PCOS is likely due to historical human migration and that genes affecting PCOS may have different impacts on males and females.
59 citations
,
November 2002 in “Pediatric Dermatology” A 19-month-old Saudi girl had a rare skin condition with no other defects, and her family was unaffected.