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.
16 citations
,
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.
2 citations
,
July 2024 in “Journal of the American Academy of Dermatology” Elderly patients have more severe hidradenitis suppurativa and may need different treatments.
29 citations
,
June 2017 in “Journal of Inherited Metabolic Disease” This review discusses the potential of using high-throughput and high-content screening methods for drug repositioning in rare diseases and reports no new results.
27 citations
,
December 2015 in “Mayo Clinic Proceedings” This review presents an evidence-based algorithm for managing hidradenitis suppurativa in primary care, highlighting the need for more research on treatment effectiveness and the disease's pathogenesis.
January 2009 in “Epsilon: Revista de la Sociedad Andaluza de Educación Matemática "Thales"” This report describes a Cronkhite-Canada syndrome patient with severe sepsis and disseminated intravascular coagulation successfully treated using combined therapies, including recombinant human soluble thrombomodulin.
February 2020 in “Open Access Macedonian Journal of Medical Sciences” In this case report, treatment with corticosteroids improved both clinical symptoms and hormonal imbalances in a 27-year-old woman diagnosed with non-classic congenital adrenal hyperplasia.
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.
30 citations
,
June 2019 in “Frontiers in Endocrinology” This article discusses the challenges in diagnosing non-classical congenital adrenal hyperplasia and emphasizes personalized treatment approaches, reporting no new clinical results.
November 2022 in “Journal of Investigative Dermatology” This study reported that an HS-associated NCSTN mutation in iPSC-derived skin organoids led to altered hair follicle stem cell differentiation and increased expression of proteins linked to HS inflammation.
17 citations
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January 2015 in “JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH” This report presents a case of Cronkhite-Canada syndrome in an elderly Indian male, adding to the approximately 450 cases documented worldwide, but introduces no new results about the condition.
July 2017 in “Contemporary Endocrinology” This article discusses the ongoing care needs for individuals with 21-hydroxylase deficiency due to mutations in the CYP21A2 gene but does not present new clinical findings.
9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.
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.
May 2024 in “Animal genetics” The researchers investigated a Maine Coon cat with suspected classical Ehlers-Danlos Syndrome and discovered a heterozygous deletion in the COL5A1 gene, underscoring the value of whole-genome sequencing for precise veterinary diagnostics.
151 citations
,
December 2004 in “Annals of the New York Academy of Sciences” This review discusses nonclassical 21-hydroxylase deficiency as the most common autosomal recessive disorder in humans and highlights the effectiveness of glucocorticoid treatment in reversing related symptoms.
December 2022 in “Research Square (Research Square)” In this study, a comprehensive treatment approach involving multiple therapies was found to play a crucial role in managing hidradenitis suppurativa in patients with intellectual and developmental disorders despite practical challenges.
296 citations
,
October 2018 in “General and Comparative Endocrinology” This review discusses the use of hair cortisol concentration as a marker for chronic stress and long-term cortisol secretion in animals, highlighting its benefits and the need for standardized sampling protocols.
157 citations
,
May 2021 in “Endocrine Reviews” This review discusses recent advancements in understanding and managing congenital adrenal hyperplasia, including improvements in screening, diagnostics, and potential genetic and cell-based treatments, but reports no new clinical findings.
32 citations
,
June 2019 in “Frontiers in Endocrinology” This review discusses the overlapping clinical features and diagnostic challenges of non-classic adrenal hyperplasia and polycystic ovary syndrome without presenting original research findings.
11 citations
,
August 2019 in “The Journal of Sexual Medicine” This study found that women with nonclassic congenital adrenal hyperplasia (NC-CAH) reported lower sexual function and higher sexual distress compared to those with classic CAH (C-CAH), particularly among those showing signs of androgen excess.
6 citations
,
December 2015 in “Medicine” This review discusses Cronkhite-Canada syndrome, highlighting a relatively mild case and suggesting that it may be a more benign and possibly reversible condition with treatment, but reports no new clinical results.
88 citations
,
April 2017 in “Journal of Pediatric and Adolescent Gynecology” This review discusses the pathophysiology, diagnosis, and treatment of congenital adrenal hyperplasia, but reports no new research results.
April 2020 in “Journal of the Endocrine Society” This study suggests that hair cortisol measurement could serve as an alternative diagnostic method for Cushing’s disease, showing acceptable concordance with urinary free cortisol despite differing evaluated periods.
11 citations
,
January 2016 in “The Journal of Sexual Medicine” This study found that young women with nonclassic congenital adrenal hyperplasia had impaired sexual function and mild depressive symptoms compared to healthy women.
1 citations
,
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed significant differences in the skin microbiome between hidradenitis suppurativa patients and healthy individuals, notably with decreased β-diversity and a distinct abundance of certain bacteria in affected skin.
1 citations
,
November 2022 in “Journal of the Endocrine Society” This study found that US adults with classic congenital adrenal hyperplasia most preferred a hypothetical adjunctive therapy that prevents glucocorticoid-induced weight gain over other potential benefits.
2 citations
,
August 2022 in “World Journal of Clinical Cases” In this study, researchers found multiple somatic mutations and copy number variations in a patient with Cronkhite-Canada syndrome, providing novel insights into its potential genetic mechanisms.
July 2024 in “Journal of Investigative Dermatology” Sex and race affect immune responses and treatment outcomes in Hidradenitis suppurativa.
October 2024 in “Medicine” In this case report, a 72-year-old female with Cronkhite-Canada syndrome showed significant improvement in symptoms and gastrointestinal polyps after hormone therapy and additional treatment.