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.
10 citations
,
May 1974 in “American journal of diseases of children” The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
20 citations
,
April 2000 in “Experimental dermatology” ODC transgenic mice can model human hair loss with skin lesions.
1 citations
,
January 2018 in “Indian dermatology online journal” Early diagnosis and genetic evaluation of ADULT syndrome are crucial to reduce stress and medical costs.
August 2025 in “Seminars in Nephrology” Regenerative repair is essential to prevent long-term kidney function issues after obstruction.
4 citations
,
January 2020 in “Obstetrics and Gynecology Reports” Obese women with PCOS have lower vitamin D levels.
4 citations
,
February 2021 in “Plant journal” OsUEV1B protein is essential for controlling phosphate levels in rice.
54 citations
,
November 1995 in “The Journal of Clinical Endocrinology & Metabolism” Females with 5 alpha-reductase-2 deficiency have less body hair, no acne, normal fertility, and delayed menarche.
June 2019 in “DOAJ (DOAJ: Directory of Open Access Journals)” Trace element deficiencies may contribute to diffuse alopecia.
June 2025 in “Veterinární Medicína” Uveodermatological syndrome in dogs is hard to manage and can lead to blindness despite treatment.
151 citations
,
June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
4 citations
,
January 2010 in “Acta dermato-venereologica” Low androgen levels can still cause female pattern hair loss.
11 citations
,
March 2020 in “American Journal of Medical Genetics Part A” A mutation in the EDNRA gene causes Oro-Oto-Cardiac syndrome, affecting face and heart development.
30 citations
,
August 1984 in “Journal of the American Academy of Dermatology” Low-sulfur hair syndrome can cause UVB sensitivity and testicular failure.
12 citations
,
January 1987 in “Ophthalmic Paediatrics and Genetics” Early diagnosis and treatment of biotinidase deficiency are crucial to prevent vision problems.
January 2019 in “Egyptian Journal of Obesity, Diabetes and Endocrinology” People with polycystic ovary syndrome often have low levels of vitamin D.
January 2020 in “Publications of the UdS (Saarland University)” People with Alopecia areata often have lower Vitamin D levels.
46 citations
,
December 1992 in “The Journal of Steroid Biochemistry and Molecular Biology” Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.
January 2011 in “대한피부과학회지” A 7-year-old girl was diagnosed with trichothiodystrophy due to low sulfur levels in her hair.
3 citations
,
April 1991 in “PEDIATRICS” Children with frequent urination don't need extensive tests or aggressive treatments.
December 2022 in “American journal of medical genetics. Part A” A person got uncombable hair syndrome from two copies of chromosome 1 from their mother.
June 2023 in “Nephrology Dialysis Transplantation” Enteric hyperoxaluria can cause severe kidney failure after bowel surgery.
7 citations
,
December 2015 in “Turkish Journal of Osteoporosis” Vitamin D deficiency is common in adults with muscle and bone pain, especially women.
March 2016 in “The Journal of Urology” The discovery of 5α-reductase deficiency in guevedoces led to the development of important urologic medications.
March 2026 in “International Journal of Clinical Dermatology” Iron deficiency can cause certain skin issues like eczematous hand and perioral lesions.
January 2018 in “Elsevier eBooks” 5α-reductase-2 deficiency causes ambiguous genitalia at birth and affects male sexual development, but individuals often develop male characteristics at puberty.
11 citations
,
November 2009 in “Sports Medicine” Irregular menstrual cycles in exercising women may be linked to energy deficiency or hormonal imbalances, requiring careful diagnosis for proper treatment.
7 citations
,
July 2005 in “Journal of Dermatological Science” The gene URB is more active in human hair growth cells and responds to a hair-related hormone.
16 citations
,
December 1996 in “International Journal of Dermatology” Vitamin C is essential to prevent scurvy and its symptoms.
4 citations
,
December 2012 in “Arquivos Brasileiros De Endocrinologia E Metabologia” A postmenopausal woman's masculine symptoms improved after surgery for a hormone-producing ovarian tumor.