3 citations,
May 2022 in “Clinical endocrinology” Hair steroid measurement is an effective method to diagnose and monitor CAH in developing countries.
3 citations,
April 2020 in “Clinical endocrinology and metabolism journal” Imaging helps detect adrenal gland issues and monitor treatment in congenital adrenal hyperplasia, and can identify tumors affecting fertility.
3 citations,
January 2020 in “International journal of trichology” Congenital triangular alopecia is a hair loss condition present from birth or early childhood with no effective treatment needed.
3 citations,
August 2012 in “The American Journal of Dermatopathology” A man with a birthmark on his scalp developed hair loss that improved with treatment, but the link between the birthmark and hair loss was unclear.
3 citations,
February 2012 in “The American Journal of Dermatopathology” A 3-year-old girl with skin mast cell buildup and congenital baldness improved with treatment, suggesting a rare link between these conditions.
2 citations,
October 2022 in “Frontiers in genetics” Late diagnosis of congenital adrenal hyperplasia can greatly affect physical development, gender identity, and sexual health.
2 citations,
November 2019 in “BMC urology” The junction of the inner and outer prepuce with good blood flow is ideal for surgical flaps.
2 citations,
March 2016 in “Serbian Journal of Dermatology and Venerology” A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
2 citations,
January 2014 in “Indian dermatology online journal” A person was born with both a rare hairless condition and a type of birthmark, which is an uncommon combination.
1 citations,
October 2022 in “Curēus” Diagnosing simple-virilizing congenital adrenal hyperplasia can be difficult and requires thorough testing and expert advice.
1 citations,
June 2022 in “JCRPE” Metreleptin treatment significantly improved metabolic health in a boy with congenital generalized lipodystrophy.
1 citations,
January 2013 in “Indian journal of dermatology, venereology, and leprology” A girl inherited excessive body hair from her mother and grandmother.
1 citations,
December 1978 in “British journal of dermatology/British journal of dermatology, Supplement” Hormonal imbalances in congenital adrenal hyperplasia cause acne.
May 2024 in “Clinical, cosmetic and investigational dermatology” 5% topical minoxidil effectively treated a boy's congenital triangular alopecia without side effects.
April 2024 in “Indian Journal of Paediatric Dermatology” Congenital triangular alopecia and vitiligo can occur together, but treatment for one may not affect the other.
December 2023 in “Oxford medical case reports” Standard treatment for congenital erythropoietic porphyria was ineffective over five years.
September 2023 in “International journal of science and healthcare research” Genetic testing is crucial for diagnosing congenital atrichia, a rare condition causing irreversible hair loss.
August 2023 in “Dermatology Reports” Acne not improved by usual treatments may indicate a genetic disorder.
June 2023 in “Medicine and Pharmacy Reports” A woman with a specific mutation causing adrenal gland issues faced fertility problems, but careful hormone therapy helped her manage it successfully.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” Congenital alopecia areata may have genetic links and topical corticosteroids are an effective treatment.
The document concludes that the girl's hairlessness is likely inherited from her parents.
January 2023 in “Revista Paulista de Pediatria” A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
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.
December 2021 in “Folia veterinaria” Over half of the dog skin disorders discussed have known gene variants, enabling genetic testing for diagnosis and responsible breeding.
January 2021 in “Skin appendage disorders” The report concludes that atypical Brauer nevus is more common in males, present at birth, and often misdiagnosed due to its unusual scalp locations.
April 2020 in “Journal of the Endocrine Society” A patient with untreated congenital adrenal hyperplasia had large benign tumors in her adrenal glands removed, improving her symptoms.
January 2020 in “Przegla̧d dermatologiczny” A 5-year-old boy was diagnosed with congenital triangular alopecia, a type of hair loss without skin changes, usually starting between ages 2-5, with no specific treatment.
January 2020 in “Acta dermato-venereologica” People with certain hair disorders may also have missing permanent teeth.
October 2019 in “Research Square (Research Square)” The junction of the inner and outer prepuce with good blood flow is best for vascular pedicle flaps.
September 2019 in “Research Square (Research Square)” Micro-CT helps identify suitable areas for surgical procedures based on blood vessel distribution in hypospadias-affected rats.