February 2020 in “Open Access Macedonian Journal of Medical Sciences” The patient with severe hirsutism improved after being diagnosed with non-classic congenital adrenal hyperplasia and treated with corticosteroids.
7 citations
,
March 2023 in “Gynecological Endocrinology” After tumor removal, the woman regained normal hormone levels, menstruated, and had a healthy baby.
October 2023 in “IJEM case reports” A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
A rare genetic mutation causes Woodhouse-Sakati syndrome symptoms.
3 citations
,
December 2021 in “Frontiers in endocrinology” A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
February 2026 in “Frontiers in Medicine” Personalized sonidegib dosing can effectively treat Gorlin-Goltz syndrome with fewer side effects.
2 citations
,
January 2021 in “American Journal of Case Reports” A 13-year-old boy with a rare genetic condition survived a heart attack and improved with treatment.
January 2024 in “Indian Journal of Paediatric Dermatology” A rare case links early-onset alopecia universalis and nephrotic syndrome, suggesting genetic immune issues.
45 citations
,
January 2007 in “Journal of Clinical Oncology” Sorafenib may cause hand-foot and stump syndrome, requiring early detection and management.
65 citations
,
December 1986 in “The Journal of Clinical Endocrinology & Metabolism” The woman had a genetic condition causing high cortisol and androgen levels, treatable with dexamethasone.
October 2024 in “Journal of the Endocrine Society” Surgical removal of a rare ovarian tumor improved symptoms and hormone levels in a postmenopausal woman.
13 citations
,
October 2000 in “International Journal of Dermatology” A 6-year-old boy in India was diagnosed with Bloom's syndrome, showing growth and developmental issues, and skin problems worsened by sunlight.
January 2023 in “Revista Paulista de Pediatria” A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
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.
January 2026 in “The Breast Journal” Understanding specific symptoms in different cancer stages can improve personalized care and quality of life.
June 2026 in “World Journal of Gastrointestinal Pathophysiology” Cronkhite-Canada syndrome is a rare disorder needing early recognition and treatment with immunosuppressive therapies and nutritional support to manage symptoms and prevent complications.
20 citations
,
July 1998 in “Annals of Clinical Biochemistry International Journal of Laboratory Medicine” A man's adrenal insufficiency was caused by a pituitary tumor linked to kidney cancer.
April 2019 in “Journal of the Endocrine Society” Rapid virilization should be checked for possible ovarian or adrenal cancer.
September 2024 in “Egyptian Journal of Medical Human Genetics” Consider NF1 in newborns with rare congenital anomalies.
15 citations
,
May 2013 in “Ophthalmic Plastic and Reconstructive Surgery” Botulinum toxin injections greatly reduced pain in Parry-Romberg syndrome.
October 2023 in “Indian Dermatology Online Journal” Schimmelpenning Syndrome requires careful evaluation and tailored treatment for skin, eye, and developmental issues.
January 2015 in “Journal of Neuromuscular Diseases” Danon disease can be hard to diagnose due to non-specific symptoms.
May 2025 in “International Journal of Trichology” Oral Acitretin effectively resolved symptoms in a child with Netherton syndrome.
December 2013 in “International Journal of Dermatology” The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
May 2025 in “Journal of the ASEAN Federation of Endocrine Societies” Surgical removal of an adrenal tumor resolved hormonal issues in a young woman.
November 2022 in “Journal of the Endocrine Society” A 13-year-old girl's masculine symptoms improved after surgery for a rare adrenal tumor that produced male hormones.
Trichorrhexis nodosa causes hair to break easily, often affecting young to middle-aged black women.
7 citations
,
December 2016 in “British Journal of Dermatology” The report suggests that hair loss in Cronkhite-Canada syndrome may be caused by alopecia areata incognita, as shown by a patient's improvement with treatment.
5 citations
,
June 1993 in “Pediatric dermatology” Monilethrix Syndrome causes fragile, beaded hair that breaks easily and needs early diagnosis for better care.
Obstructive sleep apnea can be hereditary and linked to a genetic mutation in the COL1A2 gene.