10 citations
,
September 2019 in “Experimental Eye Research” The enzyme RDH12 plays a role in vision and retinal disease, with mutations leading to early onset visual loss and blindness, but the exact disease mechanism is unclear and there are no treatments yet.
341 citations
,
November 2009 in “The FASEB Journal” Calreticulin has roles in healing, immune response, and disease beyond its known functions in the endoplasmic reticulum.
7 citations
,
September 2013 in “Familial cancer” Birt–Hogg–Dubé syndrome is a rare genetic condition causing skin lesions, lung cysts, and a higher chance of kidney cancer.
3 citations
,
July 2009 in “Experimental and Clinical Endocrinology & Diabetes” Low-dose Buserelin effectively reduces hirsutism with minimal side effects.
1 citations
,
October 2024 in “JCEM Case Reports” 5α-reductase deficiency can cause ambiguous genitalia and gender dysphoria, treatable with testosterone.
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.
November 2022 in “Journal of the Endocrine Society” The patient likely has Chrousos syndrome, a rare condition causing insensitivity to glucocorticoids, requiring high-dose dexamethasone treatment.
15 citations
,
December 2014 in “PLoS ONE” A mutation in the iRhom2 gene causes hairless mice due to abnormal hair follicle development.
5 citations
,
October 2018 in “Journal of Clinical Laboratory Analysis” Women with PCOS who have high male hormone levels often also have insulin resistance.
1 citations
,
February 2009 in “Clinical and Experimental Dermatology” Hormone-replacement therapy improved a woman's skin condition known as lymphomatoid papulosis.
1 citations
,
June 2025 in “International Journal of Molecular Sciences” Hirsutism in GCC countries is influenced by genetics, obesity, and lifestyle, with cultural stigma delaying treatment, highlighting the need for tailored health strategies.
December 2023 in “JCEM case reports” A new gene variant causes glucocorticoid resistance in a mother and son.
1 citations
,
June 2022 in “Chinese medical journal/Chinese Medical Journal” Two new mutations in the CDH3 gene cause hair loss and vision problems in a young girl.
July 2024 in “Journal of Pediatric Endocrinology and Metabolism” Ovarian hyperthecosis should be considered in young women with severe male-like symptoms and can be managed with hormone treatments.
December 2024 in “Medicina” PCOS is linked to chronic low-grade inflammation, but the role of certain infections is unclear.
1 citations
,
September 2014 in “Hormones” Over a third of women thought to have non-classical congenital adrenal hyperplasia didn't have it confirmed by genetic tests.
April 2019 in “Journal of the Endocrine Society” Glucocorticoid treatment lowered androgen levels but didn't improve hirsutism or ovulation and caused weight gain.
15 citations
,
November 2012 in “Archives of Ophthalmology” A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
October 2012 in “Institutional Repositories DataBase (IRDB)” Stem cell treatment can effectively regrow hair.
21 citations
,
November 2014 in “Journal of Endocrinological Investigation” Cross-sex hormone therapy is important for managing gender dysphoria and requires careful monitoring and healthcare provider education.
1 citations
,
November 1975 in “PubMed” GRF is not safe for tubal occlusion.
9 citations
,
May 2019 in “Experimental Cell Research” HPV genes and estradiol increase a cancer-related signaling pathway, which may be targeted for cervical cancer treatment.
3 citations
,
June 2018 in “Internal Medicine” Recombinant thrombomodulin can effectively treat severe complications in Cronkhite-Canada syndrome.
1 citations
,
June 2003 in “Obstetrical & Gynecological Survey” This new method makes checking for female infertility less painful, less invasive, and doesn't use radiation.
4 citations
,
August 2015 in “Medical Hypotheses” The conclusion suggests that the hormone ghrelin might link acid reflux to oily skin.
2 citations
,
December 1994 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The treatment effectively reduced hair growth and was safe for patients with PCOS, but it needs better bleeding control.
137 citations
,
January 2006 in “Frontiers in bioscience” CRH in the skin acts like the body's stress response system, affecting cell behavior and immune activity.
April 2020 in “BMC endocrine disorders” A woman with childhood growth hormone deficiency had multiple hormone deficiencies and developed serious lung and kidney problems later in life.
September 2025 in “JCEM Case Reports” Consider rare forms of CAH for accurate diagnosis and treatment.
January 2026 in “JCEM Case Reports” A rare case of Cushing's syndrome and pheochromocytoma requires careful re-evaluation to avoid complications.