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.
12 citations
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December 2016 in “PubMed” This review discusses causes, diagnostic guidelines, and management strategies for hirsutism, highlighting the need for appropriate evaluations and treatment considerations in different patient populations, but reports no new clinical results.
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.
November 2005 in “PubMed” In this study, the researchers successfully cloned and sequenced the hairless gene cDNA of Kunming mice, revealing high conservation and functional significance among various mammalian species.
166 citations
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July 1999 in “American Journal Of Pathology” This study found that the loss of a functional hr gene in mice leads to premature and abnormal hair follicle regression, disrupting normal hair cycling and architecture.
2 citations
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April 2008 in “PubMed” This study identified the c.1204G to A (p.E402K) mutation in the hHB6 gene as a cause of monilethrix in a Chinese family, highlighting the gene's role in the condition.
March 2016 in “Journal of the Turkish-German Gynecological Association” The woman likely has a hormonal imbalance causing excessive hair growth.
October 2024 in “InnovAiT Education and inspiration for general practice” In this article, the authors review the causes, diagnosis, and treatment approaches for hirsutism in women, emphasizing diagnosis, hormonal therapies, lifestyle modifications, and cosmetic options for managing this condition in primary care settings.
14 citations
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December 1998 in “British Journal of Cancer” This study found that breast carcinomas ectopically express a truncated form of hHb1 mRNA, which is associated with epithelial cell transformation.
February 2026 in “Psychoneuroendocrinology” Hair cortisol concentration partly reflects HPA axis regulation but doesn't capture all its complexities.
42 citations
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April 2013 in “Steroids” This review discusses the pathophysiology, molecular genetics, and management of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, with no new clinical findings reported.
April 2020 in “Journal of the Endocrine Society” This case report details an atypical presentation of Hodgkin's lymphoma in an 87-year-old man, where severe hypercalcemia and mental status changes prompted further investigation and diagnosis.
3 citations
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January 2019 in “JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH” This study found that idiopathic hirsutism was the most common cause of hirsutism among patients, and insulin resistance was significant in those with Hyperandrogenic Insulin Resistant Acanthosis Nigricans Syndrome.
June 2010 in “Chinese Journal of Dermatology” This study found a novel R430Q gene mutation in hHb6, which may be linked to the hereditary hair disorder monilethrix in the examined family.
January 2000 in “Zhongguo yixue wulixue zazhi” This study observed that human hair keratin showed distinct morphological features depending on the dissolution speed, which could have potential applications in clinical settings for developing self-tendons.
January 1996 in “Studia iuridica” This study identified two novel point mutations in the hHb6 gene associated with monilethrix, suggesting these mutations could serve as diagnostic markers for this genetic hair disorder.
1 citations
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April 2017 in “Journal of Investigative Dermatology” This proof-of-concept study reported that a new, ultra-fast, one-step immunohistochemistry method improved the interpretation of Mohs surgery slides, particularly for poorly differentiated tumors.
July 2025 in “Journal of Cutaneous Pathology” In this case report, a newborn with Conradi-Hünermann-Happle syndrome was diagnosed through early skin biopsy, which revealed unique histopathological features, including dystrophic calcifications, confirming a pathogenic variant in the EBP gene.
3 citations
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July 2022 in “Brain and Behavior” This study observed that a CARASIL mouse model demonstrated abnormal behavior, vascular and cellular changes, and upregulation of the TGF-β/Smad signaling pathway, indicating its potential involvement in CARASIL pathogenesis.
30 citations
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August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” This study identified a novel CDH3 mutation associated with sparse hair and pigmentary macular changes in two siblings with hypotrichosis but no visual symptoms.
June 2021 in “International journal of research in dermatology” This report describes a child and his father with hereditary hypotrichosis simplex, an uncommon isolated form of hair loss, with no other ectodermal or systemic abnormalities noted.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” This study found a novel nonsynonymous genetic variant in the hHb1 gene of a family with monilethrix, which differs from ten previously reported pathogenic mutations.
15 citations
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April 1960 in “Journal of the American Medical Association” This article discusses cultural perspectives on hirsutism and hypertrichosis and reports no new clinical results.
11 citations
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October 2002 in “Genetics” This study mapped a spontaneous mouse hair mutation, "hague," to keratin genes on chromosome 15 but found no gene mutations in hague mice.
January 2023 in “Brazilian Journals Editora eBooks” HPLC may detect prediabetes and diabetes earlier than Immunoturbidimetry because it shows higher A1c levels.
37 citations
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December 2007 in “International journal of clinical practice” This review discusses the definition, pathogenesis, diagnosis, and management of hirsutism and reports no new clinical results.
21 citations
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August 2017 in “Journal of veterinary internal medicine” The authors reported that a combination of amino acid and stem cell therapy may have extended survival in a dog with hepatocutaneous syndrome to 32 months post-diagnosis.
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.
1 citations
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January 2015 in “Case reports in endocrinology” This case report highlights that women with nonclassical congenital adrenal hyperplasia should be aware of the risk of having a child with classical CAH if their partner also carries a severe mutation.
195 citations
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May 2003 in “Obstetrics and gynecology (New York. 1953. Online)/Obstetrics and gynecology” This review discusses the diagnosis and treatment of hirsutism, emphasizing that a systematic evaluation can determine its cause, while combination therapy effectively manages the condition for most patients.