This case report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with sparse scalp hair and macular dystrophy, leading to altered P-cadherin synthesis.
In a case report, this study identified a new genetic variant in a six-year-old girl from Saudi Arabia with hypotrichosis and juvenile macular dystrophy, expanding the understanding of the genetic spectrum of this rare condition in the region.
This study found that CYP21A2 gene mutations are the most common cause of non-classic congenital adrenal hyperplasia, while CYP11B1 mutations are rare and may partially impair enzyme activity.
September 2021 in “GLOBAL JOURNAL FOR RESEARCH ANALYSIS” This study found that combined hormonal contraceptives containing ethenyl estradiol and cyproterone acetate improved acne, hirsutism, menstrual irregularity, and dysmenorrhea in patients with polycystic ovarian syndrome, with most participants showing significant symptom improvement after 6 to 12 months.
December 2024 in “Journal of Clinical Research in Pediatric Endocrinology” This study explains that congenital adrenal hyperplasia due to 21-hydroxylase deficiency presents as a continuous phenotype and involves symptoms ranging from virilization to accelerated growth in children, with diagnosis relying on clinical, biochemical, and genetic evaluation.
September 2016 in “Journal of Dermatological Science” This study reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.
232 citations
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June 1975 in “Journal of Steroid Biochemistry” In this study, a treatment regimen combining cyproterone acetate and ethinyl estradiol significantly improved acne and seborrhoea in most women after three months, but had varied effects on hirsutism and alopecia.
11 citations
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January 2014 in “The Scientific World Journal” This study found that Cynatine HNS significantly improved hair and nail health in women after 90 days compared to placebo.
July 2024 in “Journal of Investigative Dermatology” Sex and race affect immune responses and treatment outcomes in Hidradenitis suppurativa.
5 citations
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September 2018 in “International journal of genomics” This study found that keratin damage in mammals and birds can result from N-homocysteinylation, reducing keratin solubility and indicating significant protein modification through genetic or nutritional disruptions in homocysteine metabolism.
64 citations
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March 1984 in “Journal of steroid biochemistry/Journal of Steroid Biochemistry” In this study, cyproterone acetate combined with estradiol dramatically improved hirsutism symptoms and significantly reduced plasma testosterone and androstenedione levels in patients over periods of up to three years.
2 citations
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December 2013 in “Journal of dermatology” This letter reports a homozygous missense mutation in the LIPH gene causing autosomal recessive hypotrichosis simplex in a Chinese patient.
3 citations
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April 1977 in “PubMed” In this study, patients with varying severities of acne, seborrhoea, and hirsutism responded differently to Cyproteronacetate and Ethinyloestradiol treatment, with improvement rates dependent on symptom severity and treatment duration.
16 citations
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October 2019 in “Biological & Pharmaceutical Bulletin” This study suggests that Houttuynia cordata extract may promote hair growth by stimulating dermal papilla cell proliferation and extending the anagen phase through enhanced energy metabolism and gene expression changes.
26 citations
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December 1981 in “British journal of dermatology/British journal of dermatology, Supplement” This study observed that most hirsute patients on combined cyproterone acetate and 'Diane' therapy experienced a reduction in hair growth, with hair becoming softer, thinner, and lighter in color over 12 months.
1 citations
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January 2018 in “International Journal of Trichology” This report discusses the characteristics of circle hairs, a type of body hair growth disorder, and emphasizes the value of trichoscopy for diagnosis.
58 citations
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July 1974 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” This study found that cyproterone acetate, given with ethinyl oestradiol, significantly reduced hirsutism in women after 12 months, although improvements reversed once cyproterone acetate was stopped.
2 citations
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April 2013 in “Expert Review of Endocrinology & Metabolism” This review discusses the challenges in diagnosing different causes of adult androgen excess and outlines current screening and management strategies but reports no new findings.
This study found that hair cortisol concentrations in mother-daughter pairs are a potential biomarker for cortisol responses to chronic stress, with daughter-mother similarities affected by parenting styles and children's symptoms.
9 citations
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December 1987 in “European journal of endocrinology” In this study, 12 months of cyproterone acetate and ethinyl oestradiol treatment significantly reduced hair growth rate and certain hormone levels in hirsute women, though hair density and prolactin levels remained unchanged.
October 2024 in “Journal of the Endocrine Society” This study examined uncharacterized CYP21A2 gene variants related to non-classic congenital adrenal hyperplasia and found that several mutations reduce enzyme activity, which may help improve diagnostic and treatment strategies.
22 citations
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March 2000 in “Clinical endocrinology” This study found that while ethinyl oestradiol and cyproterone acetate effectively treated hirsutism in 90% of patients, 80% experienced relapse within six months after stopping treatment, suggesting long-term use is necessary.
43 citations
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July 2017 in “International journal of pharmaceutics” This study found that anionic HSES achieved high complexation efficiencies with various steroids, significantly enhancing their solubility, while specific β-cyclodextrin thioethers showed selective binding to testosterone and estradiol.
26 citations
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March 2009 in “Dermato-endocrinology” This review discusses the evaluation, clinical presentation, and cutaneous manifestations of congenital adrenal hyperplasia, focusing on differential diagnosis challenges with polycystic ovary syndrome, and reports no new clinical findings.
117 citations
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May 2017 in “Human Reproduction Update” This review examines the epidemiology, pathophysiology, diagnosis, and management strategies for non-classic congenital hyperplasia due to 21-hydroxylase deficiency, and provides evidence-based recommendations for its treatment and genetic counseling.
62 citations
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March 2011 in “European journal of endocrinology” This study found that parents identified with cryptic NCCAH through genetic testing are mostly asymptomatic but may experience temporary female infertility and require glucocorticoid stress coverage in specific circumstances.
16 citations
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September 2008 in “Dermatologic Therapy” This review discusses the clinical features, genetics, and treatment of 21-hydroxylase deficiency, a common type of congenital adrenal hyperplasia, and reports no new research findings.
3 citations
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December 2020 in “Skin Appendage Disorders” This case report highlights a family member with a confirmed diagnosis of hypotrichosis with juvenile macular dystrophy due to a CDH3 gene mutation, emphasizing the importance of genetic testing for accurate counseling.
April 2022 in “Our Dermatology Online” This case report details a 40-year-old woman with idiopathic hirsutism, as she exhibited terminal hair on the left side of her chin without signs of hyperandrogenism.
November 2022 in “Journal of Investigative Dermatology” This study found that stimulating the olfactory receptor OR2A4/7 with cyclohexyl salicylate promoted human hair growth and increased progeny of hair follicle epithelial stem cells in an ex vivo setting.