20 citations
,
December 2000 in “Fertility and Sterility” The N363S gene variant does not cause higher adrenal androgen levels in women with polycystic ovary syndrome.
19 citations
,
March 2007 in “Journal of diabetes science and technology” Rosiglitazone may be better than metformin for insulin resistance in PCOS, but more research is needed on certain biomarkers.
18 citations
,
December 2010 in “The Journal of Steroid Biochemistry and Molecular Biology” Increased HSD11B1 enzyme expression is linked to higher body fat and insulin resistance.
18 citations
,
February 2006 in “Brain & development” A patient with Satoyoshi syndrome improved with a treatment combining several medications, including carbamazepine and methotrexate.
16 citations
,
May 2013 in “Urology” Metabolic syndrome linked to urinary symptoms; hair loss not significant.
14 citations
,
January 2019 in “Skin appendage disorders” PFS might be a delusional disorder with potential to become mass psychogenic illness.
12 citations
,
August 2011 in “European Journal of Endocrinology” Anti-Müllerian hormone is a specific marker for ovarian issues in women with conditions like PCOS.
11 citations
,
January 2013 in “International Journal of Trichology” Short Anagen Syndrome causes persistently short hair and increased shedding, usually improving after puberty.
10 citations
,
February 2007 in “Current Opinion in Endocrinology, Diabetes and Obesity” Low birthweight and rapid weight gain after birth may increase the risk of developing polycystic ovary syndrome.
8 citations
,
February 2020 in “Fertility and Sterility” Operative hysteroscopy is still the main treatment for Asherman syndrome, but more research is needed on post-surgery methods.
8 citations
,
March 2010 in “Gynecological Endocrinology” Free Testosterone Index, bioavailable testosterone, and androstenedione are the most accurate for diagnosing excess male hormones in PCOS.
8 citations
,
August 2009 in “Pediatric transplantation” A five-month-old boy with Omenn syndrome successfully recovered after a stem cell transplant with reduced intensity conditioning.
6 citations
,
January 2018 in “Acta dermatovenerologica Alpina, Pannonica et Adriatica (Tiskana izd.)” An 8-year-old girl with Rapunzel syndrome had a hairball removed from her stomach and intestines and recovered well after surgery.
5 citations
,
November 2024 in “Journal of Clinical Immunology” Dupilumab effectively controls symptoms in infants with Netherton syndrome.
3 citations
,
January 2020 in “Acta Dermato Venereologica” Netherton Syndrome can cause severe skin lesions in rare cases.
3 citations
,
August 2019 in “Journal of The American Academy of Dermatology” Higher doses of spironolactone may improve acne in PCOS patients, but side effects are a concern.
3 citations
,
April 2002 in “The American Journal of Medicine” The document concludes that early diagnosis of Balint's syndrome is crucial for effective treatment and that understanding drug interactions, like between ritonavir and statins, is important for patient care.
2 citations
,
May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” Hutchinson-Gilford Progeria Syndrome is a rare genetic disorder caused by a specific gene mutation, characterized by aging symptoms and managed by monitoring heart health and using low-dose aspirin.
2 citations
,
August 2012 in “Journal of the American Academy of Dermatology” Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
1 citations
,
August 2023 in “The journal of pharmacology and experimental therapeutics/The Journal of pharmacology and experimental therapeutics” Kir6.1 mutations in Cantú syndrome increase channel sensitivity and hyperpolarization, while SUR2B mutations do not.
1 citations
,
November 2015 Dental pulp stem cells might not reliably become neurons.
1 citations
,
March 2012 in “Revue neurologique” Proper diet management is crucial for preventing severe symptoms in phenylketonuria.
1 citations
,
September 2011 in “Journal of Dermatology” A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
1 citations
,
January 2009 in “Trepo - Institutional Repository of Tampere University” Vitamin D may help regulate cholesterol and influence prostate cancer development.
April 2026 in “Human Genome Variation” The MBTPS2 gene variant c.970+5G>A is a common mutation causing IFAP syndrome.
April 2026 in “JOJ Dermatology & Cosmetics” Skin issues in PCOS signal hormone problems, and combined treatments improve outcomes.
January 2025 in “Universidad de Córdoba Insitutional Repository (Universidad de Córdoba)” An imbalanced scalp microbiome may worsen alopecia areata severity and inflammation, but treatment can partially restore balance.
January 2024 in “Epidemiology international journal” 19.7% of Afro-Caribbean women in Tobago have PCOS.
December 2023 in “JCEM case reports” A new gene variant causes glucocorticoid resistance in a mother and son.
July 2023 in “Media Dermato Venereologica Indonesiana” Early diagnosis, stopping the suspected drug, and supportive care are crucial for treating Stevens-Johnson Syndrome and Toxic Epidermal Necrolysis.