62 citations,
March 2011 in “European journal of endocrinology” Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.
188 citations,
May 2009 in “Plant physiology” Researchers found 19 genes important for root hair growth in a plant called Arabidopsis.
16 citations,
February 2016 in “Gynecological Endocrinology” Indian women with PCOS from Delhi and Srinagar show different symptoms, with Delhi women having higher obesity and blood sugar issues, and Srinagar women showing more hair growth and testosterone levels.
7 citations,
December 2014 in “Gynecological Endocrinology” LC-MS/MS is more reliable than immunoassays for diagnosing 21-hydroxylase deficiency.
March 2024 in “Research Square (Research Square)” Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
19 citations,
August 1999 in “European journal of endocrinology” The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.
114 citations,
March 2010 in “Zebrafish” PROTO1 and PROTO2 protect against hearing damage.
62 citations,
January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
2 citations,
May 2018 in “Expert opinion on orphan drugs” Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
April 2024 in “Journal of clinical medicine” Classical PCOS types A and B are most common and linked to higher health risks.
July 2023 in “Journal of Biomedical Science” Different people show different symptoms for genetic diseases because of how sensitive their bodies are to small changes in important factors.
April 2023 in “Journal of Investigative Dermatology” The specific skin disease variant p.(Arg2000Trp) in plectin can cause a wide range of symptoms, which should be considered when diagnosing patients.
37 citations,
August 2019 in “Frontiers in Microbiology” Staphylococcus epidermidis A/C strains are more antibiotic-resistant and infection-adapted, while B strains thrive in hair follicles.
24 citations,
April 2021 in “BMC women's health” High BMI worsens hair growth in women with PCOS.
May 2008 in “Hair transplant forum international” A genetic test can identify people at risk of male pattern baldness early, allowing for quicker treatment.
People with Down syndrome have a higher risk of skin disorders and need better screening and treatment.
124 citations,
August 1990 in “British Journal of Dermatology” Diffuse alopecia in women may be related to androgens and iron deficiency, and basic hormone and nutrient screening is useful.
97 citations,
February 2007 in “Clinical Obstetrics and Gynecology” The definition of Polycystic Ovary Syndrome may change with new research, and careful screening is key for managing the condition.
1265 citations,
October 2013 in “The Journal of Clinical Endocrinology and Metabolism” The guideline suggests using specific criteria to diagnose PCOS, recommends various treatments for its symptoms, and advises screening for related health issues.
151 citations,
December 2004 in “Annals of the New York Academy of Sciences” Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
16 citations,
November 2018 in “Singapore Medical Journal” Primary care for PCOS focuses on lifestyle changes, medication based on symptoms, and mental health, with diabetes screening and specialist referral for severe cases.
9 citations,
September 2014 in “Cancer Epidemiology, Biomarkers & Prevention” Certain genetic variants in the androgen receptor are linked to higher PSA levels, potentially affecting prostate cancer screening outcomes.
January 1995 in “Adolescent and pediatric gynecology” Mutations in the androgen receptor gene cause different levels of androgen insensitivity, making it hard to create simple tests for the condition.
197 citations,
June 2009 in “American journal of human genetics” WNT10A mutations often cause ectodermal dysplasias, with males showing more tooth issues than females.
157 citations,
May 2021 in “Endocrine Reviews” Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
42 citations,
January 2018 in “Expert review of precision medicine and drug development” Drug repositioning is becoming more targeted and efficient with new technologies, offering personalized treatment options and growing interest in the field.
25 citations,
July 2013 in “Environmental Toxicology and Chemistry” Spironolactone harms fish reproduction and is more potent in fish than invertebrates, needing environmental monitoring.
17 citations,
February 2020 in “Journal of Pediatric and Adolescent Gynecology” Early medical support for transgender youth is important for their health, with low regret for gender-affirming hormone use and a need for knowledgeable care providers.
16 citations,
September 2008 in “Dermatologic Therapy” CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
15 citations,
January 2019 in “Gynecological Endocrinology” The article concludes that global standardization in PCOS research is crucial for accurate diagnosis and understanding of the condition.