49 citations
,
November 2019 in “Egyptian Journal of Medical Human Genetics” Certain gene variants may contribute to high androgen levels in women with polycystic ovary syndrome.
17 citations
,
September 2010 in “Pediatric dermatology” A 15-year-old with KID syndrome developed a rare skin condition called PEHFN.
October 2025 in “Journal of the Endocrine Society” A rare pituitary tumor in an 18-year-old male caused hormonal issues and vision loss, requiring surgery and further treatment.
9 citations
,
February 2007 in “JAMA” PCOS is a common inherited condition causing cysts, irregular periods, and increased diabetes risk in women.
December 2016 in “Springer eBooks” Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.
December 2024 in “Journal of Clinical Research in Pediatric Endocrinology” 21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.
Mohamed Kandil suggests renaming Polycystic Ovary Syndrome to "Polyfollicular Anovulatory Androgenic Syndrome" to better describe its symptoms, but concerns exist that it may not cover all related issues like obesity and depression.
2 citations
,
May 2023 in “Indian Journal of Dermatology Venereology and Leprology” A new genetic mutation in the CAST gene may link PLACK syndrome to alopecia areata.
May 2025 in “The Journal of Rheumatology” Catatonia can be a rare sign of lupus, needing careful diagnosis and treatment.
26 citations
,
March 2009 in “Dermato-endocrinology” The document concludes that diagnosing and treating Congenital Adrenal Hyperplasia is complex and requires a team approach due to its effects on the skin and other symptoms.
January 2019 in “Przegląd Dermatologiczny” An 87-year-old woman was diagnosed with type 3 autoimmune polyendocrine syndrome and had multiple autoimmune issues.
August 2022 in “IntechOpen eBooks” Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
3 citations
,
June 2002 in “PubMed” Two sisters with Netherton's syndrome had skin and hair issues, needing special diet and ointments.
January 2023 in “Pediatrics International” Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.
1 citations
,
July 2024 in “International Journal of Innovative Science and Research Technology (IJISRT)” Stopping steroids and providing supportive care improved the patient's Cushing Syndrome symptoms and ulcers.
June 2014 in “The Journal of Dermatology” A patient with a rare chromosome condition also had a rare type of hair loss.
September 2023 in “Journal of the American Academy of Dermatology” Children with alopecia areata, especially with Down syndrome or thyroid issues, should be screened for thyroid disease.
13 citations
,
July 2004 in “Pediatric dermatology” A new severe form of monilethrix syndrome includes hair loss, scalp itching, cataracts, and distinct facial features.
August 2008 in “Obstetrics & gynecology science” Polycystic Ovary Syndrome (PCOS) is a complex disorder with both immediate and long-term health effects, including menstrual issues, infertility, and increased risk of diabetes and heart disease.
2 citations
,
August 1993 in “Archives of Dermatology” A 39-year-old woman developed uncombable hair syndrome after taking oral contraceptives.
26 citations
,
August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” Hoyeraal-Hreidarsson syndrome in infants causes severe gastrointestinal issues.
PCOS phenotypes A and B are more common and linked to higher health risks in women from the Ecuadorian Andes.
81 citations
,
November 2012 in “Journal of the National Cancer Institute” The tumor suppressor gene FLCN affects mitochondrial function and energy use in cells.
14 citations
,
September 1998 in “Journal of Pediatric Gastroenterology and Nutrition” Pulmonary symptoms in Crohn's disease can occur and should be diagnosed with bronchoscopy for effective treatment.
November 2025 in “International Journal of Clinical Obstetrics and Gynaecology” PCOS is likely inherited in families, increasing risk for first-degree relatives.
March 2019 in “Journal der Deutschen Dermatologischen Gesellschaft” Rothmund-Thomson syndrome type 2 can cause chronic, poorly healing wounds.
35 citations
,
March 2012 in “Experimental and Clinical Endocrinology & Diabetes” The conclusion is that accurately identifying the cause of high androgen levels in women with PCOS is crucial and requires specific tests.
2 citations
,
May 2011 in “International Journal of Dermatology” A 12-year-old boy in rural south India had a rare skin condition causing hair loss and inability to sweat.
September 2024 in “Electronic Journal of General Medicine” Diagnosing Sertoli-Leydig cell tumors is challenging due to their unusual symptoms and can occur at any age.
October 2023 in “Journal of the Endocrine Society” The desmopressin stimulation test helped identify an adrenal cause for a patient's Cushing's syndrome.