January 2026 in “Frontiers in Oncology” Thorough evaluation and surgery are crucial for managing rare ovarian tumors in postmenopausal women with high androgen levels.
15 citations
,
April 2016 in “Hormones” Mutations in the NR3C1 gene cause a rare condition that affects hormone signaling and can lead to various symptoms, with dexamethasone as a treatment option.
56 citations
,
January 2014 in “Journal of Investigative Dermatology” Olmsted syndrome can be inherited as an autosomal recessive trait due to a rare TRPV3 gene mutation.
November 2023 in “Global Medical Genetics” Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
January 2007 in “Revista del Centro Dermatológico Pascua” A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
17 citations
,
January 2011 in “Indian journal of dermatology, venereology, and leprology” A rare genetic skin condition usually affecting males was found in a 9-year-old girl.
January 2025 in “International Journal of Dermatology” Consider TFI in facial hypopigmentation diagnoses and confirm with a biopsy.
4 citations
,
June 2005 in “Andrology” A woman's diabetes improved after removing ovarian tumors that caused high testosterone levels.
16 citations
,
July 2021 in “American Journal of Medical Genetics Part A” Mutations in the LSS gene cause hair loss and may affect brain development, with varying severity.
July 2005 in “The American Journal of Human Genetics” The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
23 citations
,
June 2016 in “Journal of Veterinary Internal Medicine” Cats can have hypersomatotropism without diabetes, suggesting current diagnosis methods may miss cases.
62 citations
,
January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
December 2025 in “ILDS-DEV”
72 citations
,
November 2012 in “PloS one” The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
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.
10 citations
,
March 2015 in “Journal of dermatology” The boy's severe skin disorder is caused by two new mutations in his TGM1 gene.
December 2006 in “8th European Congress of Endocrinology incorporating the British Endocrine Societies” Men with early hair loss and hormonal changes like PCOS could be the male equivalent of PCOS, not linked to metabolic syndrome.
October 2023 in “Journal of the Endocrine Society” A woman was diagnosed with Sheehan's syndrome and a rare complication of diabetes insipidus 33 years after symptoms began, improving with hormone therapy.
6 citations
,
January 2013 in “Case reports in endocrinology” The document concludes that AFA should be considered in patients with acromegaly-like features but normal hormone levels, and more cases need to be identified to understand the condition fully.
December 2022 in “Journal of Medical Case Reports” A 20-year-old woman was found to have a rare ovarian tumor causing symptoms like acne and a low-pitched voice, which disappeared after the tumor was removed.
January 2023 in “Indian Dermatology Online Journal” Uncombable hair syndrome is linked to Zellweger syndrome.
79 citations
,
March 2005 in “Journal of Medical Genetics” A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
37 citations
,
June 2000 in “Experimental dermatology” The Lanceolate hair-J mutation in mice mimics human hair disorders like Netherton's syndrome.
32 citations
,
January 2010 in “Journal of Korean Medical Science” A rare adrenal tumor in a 14-year-old girl caused male-like symptoms and was successfully removed.
39 citations
,
July 1997 in “American Journal of Medical Genetics” The gene for Clouston syndrome in a large Indian family is located in the 13q11-q12.1 region.
6 citations
,
June 2006 in “International Journal of Gynecological Pathology” A postmenopausal woman's hormone imbalance and symptoms improved after removing benign ovarian tumors.
4 citations
,
April 2002 in “Medical Hypotheses” Hormones cause hair loss by affecting cell growth and weakening cell attraction.
36 citations
,
January 2010 in “Journal of Pediatric Endocrinology and Metabolism” A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.
78 citations
,
August 1996 in “The Journal of Clinical Endocrinology & Metabolism” The same gene mutation can cause different symptoms in family members.
8 citations
,
July 2015 in “International Journal of Dermatology” A new DSG4 gene mutation causes hair defects in a young girl.