117 citations
,
May 2017 in “Human Reproduction Update” The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
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.
15 citations
,
August 2022 in “The Application of Clinical Genetics” ABCD1 gene mutations cause adrenomyeloneuropathy, leading to symptoms like limb weakness and spasticity, with management focusing on rehabilitation and spasticity treatment.
3 citations
,
April 2009 in “Pediatrics in review” Doctors need to recognize and treat metabolic disorders in children early to prevent serious health issues.
99 citations
,
May 2013 in “Familial cancer” People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
2 citations
,
July 2009 in “Mayo Clinic Proceedings” A 66-year-old woman with skin lesions and other symptoms improved after treatment for porphyria cutanea tarda.
Plant roots respond to fungus smells by possibly using certain proteins and a plant hormone to change root growth, but more research is needed.
September 2025 in “JCEM Case Reports” Consider rare forms of CAH for accurate diagnosis and treatment.
A TNFAIP3 gene mutation can cause unusual and varied symptoms of lupus and Sjogren's syndrome.
10 citations
,
April 2020 in “Clinics in Dermatology” Biotin supplements improved skin and hair problems in a girl with biotinidase deficiency.
May 2025 in “Journal of the ASEAN Federation of Endocrine Societies” VHL disease can cause early paragangliomas, needing lifelong monitoring.
December 2023 in “Research and reports in urology” A young man with high-grade prostate cancer had successful surgery and good recovery, highlighting the need for awareness in younger men.
January 2021 in “Digital Commons - PCOM (Philadelphia College of Osteopathic Medicine)” Sebaceous glands are essential for skin health but can contribute to conditions like acne and hair loss.
257 citations
,
July 2018 in “Obstetrics & Gynecology” PCOS is a complex disorder in women that can lead to various health risks and requires personalized treatment.
11 citations
,
November 2012 in “Seminars in Cutaneous Medicine and Surgery” Genetic factors affect hair loss, and molecular testing may help predict, diagnose, and treat it.
94 citations
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July 2020 in “European Journal of Human Genetics” The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
244 citations
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September 2008 in “Annual Review of Genomics and Human Genetics” The document concludes that the fast-growing direct-to-consumer genetic testing market lacks sufficient regulation, posing risks to consumers due to questionable test quality and accuracy.
3 citations
,
December 2000 in “International Journal of Cosmetic Science” The study created a new method to test drugs that affect hormone processing in skin.
A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
14 citations
,
May 2013 in “American Journal of Physiology-endocrinology and Metabolism” Removing myelin protein zero-like 3 in mice leads to better metabolism and resistance to obesity.
January 2024 in “Journal of Applied Pharmaceutical Science” Procyanidin B2 and leucopelargonidin from Saraca asoca may help treat PCOS by balancing hormones.
2 citations
,
May 2018 in “Expert opinion on orphan drugs” Newborn screening and gene therapy are expected to improve outcomes for Omenn syndrome patients.
50 citations
,
March 2001 in “Clinics in Dermatology” Genes and hormones cause hair loss, with four genes contributing equally.
7 citations
,
December 2014 in “Gynecological Endocrinology” LC-MS/MS is more reliable than immunoassays for diagnosing 21-hydroxylase deficiency.
March 2009 in “Prenatal Diagnosis” Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.
62 citations
,
January 2010 in “Hormone research in paediatrics” Genetic screening is crucial for accurately diagnosing APS-1 due to its varied symptoms.
56 citations
,
December 2011 in “Steroids” The document suggests treating individuals with nonclassic congenital adrenal hyperplasia who show symptoms, especially those related to excess male hormones.
35 citations
,
October 2017 in “JAMA dermatology” Children with alopecia areata should only have thyroid screening if they have Down syndrome, a history of atopy, family history of thyroid disease, or signs of thyroid problems.
30 citations
,
June 2019 in “Frontiers in Endocrinology” The document concludes that managing non-classical congenital adrenal hyperplasia in females requires personalized treatment, genetic counseling, and a team of specialists.
60 citations
,
April 2003 in “Human Reproduction” Young Czech women with PCOS have a higher risk of heart problems and should be regularly checked for cholesterol and glucose issues.