January 2026 in “Frontiers in Medicine” A child has a rare hair and skin disorder due to specific gene variants, suggesting broader genetic testing is needed.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
62 citations
,
January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
59 citations
,
August 2007 in “Clinical Endocrinology” The current methods for diagnosing polycystic ovary syndrome are too vague and may lead to misdiagnosis and problems in research.
38 citations
,
December 2009 in “Therapeutic Advances in Medical Oncology” The conclusion suggests that prostate cancer should be classified by castration status and that new therapies targeting androgen receptor signaling show promise.
35 citations
,
August 2010 in “The American journal of pathology” Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
19 citations
,
May 2007 in “Dermatologic therapy” The document concludes that various treatments, including laser therapy, are effective for managing pseudofolliculitis barbae, especially in darker skin types.
6 citations
,
November 2022 in “Forensic Science Medicine and Pathology” Genetic markers can help predict ear shapes for forensic use.
26 citations
,
November 2011 in “Arquivos Brasileiros De Endocrinologia E Metabologia” Diagnosing PCOS in teenagers should focus on signs of excess male hormones and not rely solely on ovarian ultrasound or irregular periods, and should be reassessed in adulthood.
Older age, obesity, hirsutism, and having children increase metabolic risk in women with PCOS.
25 citations
,
January 2000 in “Hormone Research in Paediatrics” Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
53 citations
,
October 2014 in “Free radical biology & medicine” Defective mitochondrial DNA replication causes aging symptoms and increased oxidative damage in mice.
10 citations
,
April 2019 in “Environmental Science and Pollution Research” Eating selenium-rich rice improved antioxidant activity and signs of aging in mice.
September 2017 in “Journal of Investigative Dermatology” Certain miRNAs might be involved in a hair loss condition called frontal fibrosing alopecia and could possibly help in its diagnosis.
3 citations
,
July 2020 in “International Journal of Molecular Sciences” SCDSFs from zebrafish embryos are beneficial for treating cancer, regenerating tissues, and improving conditions like psoriasis and alopecia.
100 citations
,
May 2011 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
8 citations
,
March 2010 in “Gynecological Endocrinology” Free Testosterone Index, bioavailable testosterone, and androstenedione are the most accurate for diagnosing excess male hormones in PCOS.
88 citations
,
April 2017 in “Journal of Pediatric and Adolescent Gynecology” The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.
30 citations
,
June 2021 in “British Journal of Dermatology” Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
28 citations
,
October 2013 in “Journal of The American Academy of Dermatology” Ovarian SAHA syndrome makes women with PCOS more resistant to insulin and increases their risk of blood sugar problems.
24 citations
,
January 2021 in “Physiological Research” Testosterone affects brain functions and contributes to sex differences, influencing conditions like autism.
20 citations
,
December 2011 in “Journal of inherited metabolic disease” Valproic acid treatment increases a specific acid in urine by blocking an enzyme, possibly causing skin rash and hair loss.
14 citations
,
March 2023 in “Scientific Reports” Oxidative stress, not insulin resistance, is significantly related to free androgen index in PCOS.
9 citations
,
January 1997 in “Endocrine Journal” Gonadal biopsy is the best method to diagnose gonadal dysgenesis.
6 citations
,
January 2020 in “BMC Medical Genetics” A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.
4 citations
,
June 2013 in “The Journal of Rheumatology” The document concludes that various findings in rheumatology offer insights into disease severity, treatment responses, and potential risks in medication, with some limitations due to unspecified participant numbers.
3 citations
,
July 2021 in “Life science alliance” PNKP is essential for keeping adult mouse progenitor cells healthy and growing normally.
3 citations
,
May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” The unique coat of lykoi cats is likely caused by new variants in the Hairless gene.
October 2023 in “Case reports in dermatological medicine” A Jordanian family with Clouston syndrome has a common GJB6 gene mutation.
November 2022 in “CARDIOMETRY” A group has developed therapies that show promise for treating cancer and various other conditions.