29 citations
,
January 1996 in “The Journal of Clinical Endocrinology & Metabolism” A genetic mutation in a specific gene causes a salt-wasting condition in a Pakistani girl and her family.
41 citations
,
January 2000 in “Hormone Research in Paediatrics” Cortisone reductase deficiency can cause high androgen and cortisol levels and may be missed in women with similar symptoms.
6 citations
,
October 2020 in “Frontiers in cell and developmental biology” WWOX deficiency in mice causes skin and fat tissue problems due to disrupted cell survival signals.
12 citations
,
January 2013 in “Indian dermatology online journal” Dermatopathia pigmentosa reticularis causes skin discoloration, hair loss, and nail problems.
2 citations
,
July 2013 in “Journal of Life Sciences” A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.
111 citations
,
May 2001 in “Human reproduction update” Insufficient androgen action in male fetuses can cause genital development issues due to genetic mutations or environmental chemicals.
July 2025 in “SVU-International Journal of Medical Sciences” Children with Vitamin D-dependent rickets type II may have severe dental issues that need a team of specialists for proper care.
April 2017 in “Journal of nutritional health & food engineering” Over 65% of people in the United Arab Emirates have undetected vitamin D deficiency, causing symptoms often mistaken for stress or migraines.
Mutant Cx43 causes slower wound healing and hair growth issues in ODDD.
January 2011 in “Chinese Journal of General Practice” Proper treatments based on tests can improve life quality and protect kidneys in Parkinson's patients with bladder issues.
January 2020 in “International journal of scientific and research publications” Lower SOD enzyme levels are linked to more severe hair loss in men.
1 citations
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January 1986 in “Journal of Steroid Biochemistry” Women with excessive hair growth or polycystic ovary disease may more often carry a gene variant for 21 hydroxylase deficiency.
12 citations
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January 2016 in “Journal of Orofacial Orthopedics / Fortschritte der Kieferorthopädie” Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
16 citations
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June 1983 in “Journal of Neurochemistry” Copper therapy improved health and enzyme activity in mice with copper deficiency.
December 2016 in “The journal of sexual medicine” Many patients with lower urinary tract symptoms also have undiagnosed erectile dysfunction, which improves with treatment.
1 citations
,
January 2024 in “Pediatric Dermatology” The boy's scurvy symptoms improved with vitamin C treatment, highlighting the need for a balanced diet.
17 citations
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March 2016 in “Liver international” Men with advanced liver disease and high oestrone and low testosterone levels have worse health outcomes.
3 citations
,
April 1991 in “PEDIATRICS” Children with frequent urination don't need extensive tests or aggressive treatments.
57 citations
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August 1997 in “Pediatrics International” VDDR I and II are genetic disorders affecting vitamin D use, causing rickets, with VDDR I treatable by vitamin D supplements and VDDR II needing high doses and calcium.
4 citations
,
April 2020 in “Journal of Cosmetic Dermatology” High uric acid levels link to male pattern baldness, especially in young men.
January 2025 in “BMC Nephrology” Most end-stage renal disease patients in Jordan have skin issues like dryness and itching.
98 citations
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July 1983 in “Journal of Steroid Biochemistry” Individuals with this condition often develop male traits and identities at puberty despite being raised as females.
1 citations
,
December 2023 in “Curēus” Most children with a common hemochromatosis genotype had elevated iron levels but no severe symptoms.
1 citations
,
February 2022 in “Online journal of biological sciences” The document does not determine if adults with aphallia are fertile.
May 2024 in “British journal of dermatology/British journal of dermatology, Supplement” CYLD deficiency in skin tumors disrupts hair follicle cell processes and protein secretion.
37 citations
,
June 2002 in “The Laryngoscope” Ectodermal dysplasia causes various symptoms and early treatment is important for eye, dental, and skin issues.
21 citations
,
December 2015 in “Development Growth & Differentiation” DHT is crucial for urethral formation, and its disruption can affect masculinization and lead to hypospadias.
December 2009 in “DergiPark (Istanbul University)” Check serum ferritin levels and total blood count for women with diffuse hair loss.
37 citations
,
January 1986 in “Carcinogenesis” ODC expression in mouse skin and tumors is varied and can be inhibited by retinoic acid or cycloheximide.
5 citations
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February 2004 in “Clinical and Experimental Ophthalmology” Multiple eye conditions were studied, highlighting the importance of various imaging methods for diagnosis, the vision side effects of drugs tamoxifen and Propecia, and the usefulness of optical coherence tomography for diagnosing and monitoring macular and retinal diseases.