5 citations
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January 2017 in “Arquivos Brasileiros de Oftalmologia” This report describes a novel mutation in the CDH3 gene in an 11-year-old Iranian boy with hypotrichosis and juvenile macular dystrophy, indicating a new genetic variant associated with the disorder.
30 citations
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June 2016 in “Journal of Human Genetics” This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.
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.
26 citations
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August 2009 in “Journal of Pediatric Gastroenterology and Nutrition” This study reports that gastrointestinal problems, such as intractable diarrhea and enterocolitis, can dominate the clinical course of patients with Hoyeraal-Hreidarsson syndrome and may occur before hematological and immunological symptoms.
10 citations
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November 2019 in “Neuroendocrinology” This study shows that measuring 17-hydroxyprogesterone concentrations in scalp hair may be a useful noninvasive tool for monitoring treatment in adults with congenital adrenal hyperplasia.
12 citations
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January 2012 in “Dermatology” Finasteride helped treat a 28-year-old's facial skin condition.
67 citations
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August 2004 in “Endocrinology” This study identified a novel I268T mutation in the vitamin D receptor that reduces its function, contributing to hereditary vitamin D-resistant rickets, and found that a potent vitamin D analog could improve receptor function.
41 citations
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March 2016 in “The Journal of Clinical Endocrinology & Metabolism” This study suggests that patients with STSD show a different pattern in androgen activation compared to healthy controls, potentially due to increased 5α-reductase activity and absent prepubertal serum DHEA surge.
April 2018 in “Journal of Investigative Dermatology” This study found that the absence of Hes1 in hair follicles delays secondary hair germ activation and shortens the anagen phase, impacting HFSC self-renewal and long-term hair regeneration.
October 2023 in “The Journal of Dermatology” This study developed and validated the Hair-Shedding Visual Scale for Asian Women, finding it to be an effective tool for identifying FPHL and TE.
45 citations
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June 2008 in “Journal of pharmaceutical and biomedical analysis” This study developed a new HPLC method for detecting prohibited substances like minoxidil and hydrocortisone in cosmetic products, achieving high sensitivity and successful application to real-world samples.
September 1978 in “Journal of steroid biochemistry/Journal of Steroid Biochemistry” This review discusses the antimicrobial and protective effects of hesperidin and hesperetin against various toxicities, with potential mechanisms explored, but it reports no new research findings.
September 2025 in “JCEM Case Reports” In this case report, a 46-year-old woman initially diagnosed with 21-hydroxylase deficiency congenital adrenal hyperplasia was later identified as having 3β-HSD2 deficiency after further investigation, highlighting the need for awareness of rarer CAH forms to prevent delayed diagnosis and insufficient treatment.
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.
December 2022 in “American journal of medical genetics. Part A” This case report describes an instance of autosomal recessive uncombable hair syndrome caused by maternal uniparental disomy of chromosome 1.
2 citations
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January 1975 in “Archives of Dermatological Research” Certain enzymes react strongly with some hormones in rat skin during hair growth, mainly in sebaceous glands and hair sheaths.
September 2024 in “Journal of the American Academy of Dermatology” PRO-C22 can help diagnose and monitor the severity of hidradenitis suppurativa.
January 2024 in “International Journal of Biological and Environmental Investigations” This study developed and validated a reliable RP-HPLC method for accurately quantifying dutasteride in pharmaceutical formulations and bulk pharmaceuticals using a Shiseido C18 analytical column, demonstrating precision, accuracy, and sensitivity across a concentration range of 10 to 22 ppm.
49 citations
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December 2017 in “Journal of pharmaceutical and biomedical analysis” This study developed and validated a high-resolution mass spectrometry method to screen for prohibited substances and analyze six endogenous steroids in urine according to World Antidoping Agency requirements, demonstrating its effectiveness for antidoping analysis.
9 citations
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April 2016 in “Clinical Endocrinology” This study suggests that measuring scalp hair 17-hydroxyprogesterone and androstenedione concentrations can be a promising tool for monitoring treatment in children with congenital adrenal hyperplasia.
August 2021 in “Pediatrics in review” This case study reports that a 16-year-old girl with hirsutism and menstrual irregularities was diagnosed with a benign steroid cell ovarian tumor, after high testosterone levels indicated a potential androgen-secreting source.
37 citations
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December 2003 in “Reproductive Toxicology” The researchers reported that the rat Hershberger assay reliably detected endocrine-disrupting effects of finasteride, procymidone, and 17α-methyltestosterone, validating the assay's sensitivity for identifying hormonal activity.
21 citations
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January 2006 in “Hormone Research in Paediatrics” In this case study, a girl with hereditary vitamin D resistant rickets had a novel mutation in the VDR gene that affected hair cycling without causing total alopecia, suggesting ligand-independent VDR function in hair cycling.
43 citations
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August 2010 in “Expert Opinion on Investigational Drugs” This review explores the potential of selective 11β-HSD1 inhibitors to improve insulin sensitivity in type 2 diabetes, emphasizing the need for more clinical research and reports no new clinical results.
37 citations
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October 2006 in “Archives of Biochemistry and Biophysics” This study describes a patient with hereditary vitamin D resistant rickets (HVDRR) who, despite having a truncated vitamin D receptor, did not exhibit typical hair or skin abnormalities, suggesting possible compensation via interactions with other proteins.
January 2025 in “Case Reports in Genetics” The researchers identified a pathogenic variant in the SRD5A2 gene among siblings with 46,XY disorder of sexual development, highlighting the importance of comprehensive genetic testing in diagnosis and management.
216 citations
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November 1999 in “Fertility and Sterility” This study found that a basal 17-hydroxyprogesterone level is effective for screening nonclassic adrenal hyperplasia in women, with a 4 ng/mL cutoff providing high specificity and positive predictive value.
In this report, a 22-year-old woman with congenital adrenal hyperplasia due to 21-hydroxylase deficiency underwent treatment with hydrocortisone and spironolactone, followed by feminization surgery, which subsequently led to the development of secondary sexual characteristics and regular menstruation.
354 citations
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August 1991 in “Molecular Endocrinology” This study found that distinct isoenzymes of 3 beta-hydroxysteroid dehydrogenase are expressed in human adrenals and gonads compared to the placenta and skin.
October 2007 in “Clinical Biochemistry” This study identified a new genotype, V281+I172N/V281L, linked to non-classical 21-hydroxylase deficiency, suggesting it should be considered in genetic panels for the condition.