November 2022 in “Journal of the Endocrine Society” This case report highlights a novel NR5A1 gene variant associated with a severe 46,XY disorder of sex development, stressing the importance of genetic screening in similar cases.
54 citations
,
April 2010 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” This review discusses 46,XY disorders of sex development caused by defects in androgen production and highlights the need for long-term care from experienced multidisciplinary teams, but it reports no new clinical findings.
September 2022 in “Annals of medicine and surgery” This case report discusses the diagnostic challenges and management options for three siblings with 46, XY DSD due to type 2 5-α reductase deficiency, highlighting the genetic basis and impact on their quality of life.
July 2021 in “Advances in laboratory medicine” This article reviews differential diagnosis approaches for 46,XY DSD, proposing a diagnostic algorithm focused on biochemical and genetic data, without presenting new clinical results.
46 citations
,
October 2012 in “Seminars in reproductive medicine” This review describes how recent discoveries in genetic defects and alternative pathways in androgen biosynthesis are reshaping our understanding of male sexual differentiation, but it presents no new clinical findings.
13 citations
,
June 2024 in “Frontiers in Genetics” This review examined genetic factors in 46, XY differences/disorders of sex development and found that whole-exome sequencing is more effective than panel sequencing for molecular diagnosis. It identified regional genetic variation and emphasized next-generation sequencing's role in detecting variants related to gonadal and androgen-related genes.
11 citations
,
August 2010 in “Developmental neurobiology” This study suggests that Ptprq in the hair bundles may exist as multiple isoforms that are differentially expressed throughout development and affect the organization of stereocilia in the chick inner ear.
4 citations
,
August 2021 in “Pediatrics in review” This review explores disorders of sex development, emphasizing the need for a systematic, multidisciplinary approach and the benefits of genetic testing for better diagnosis and gender assignment planning, but it reports no new clinical findings.
2 citations
,
January 2009 in “Journal of Drug Delivery Science and Technology” This study found that cationic vesicles enhanced minoxidil skin retention and in vivo hair growth efficacy compared to other formulation types due to electrostatic interactions with the skin.
1 citations
,
May 2018 in “Clinical chemistry” This case report described a 9-year-old girl initially suspected to have complete androgen insensitivity syndrome, whose laboratory tests later suggested an alternative diagnosis involving atypical steroid metabolism patterns and hormonal responses.
1 citations
,
July 2021 in “Health & Medical Journal” This case report describes a 29-year-old man with systemic lupus erythematosus who responded well to pulse-dose methylprednisolone treatment.
1 citations
,
January 2021 in “Journal of the American Academy of Dermatology” This study found that bullous lupus erythematosus lesions in cutaneous lupus erythematosus showed distinctive histopathology with neutrophilic predominance and were associated with severe disease and higher extracutaneous involvement.
1 citations
,
October 2013 in “The American Journal of Gastroenterology” This case report documents a 59-year-old woman who developed atypical drug-induced lupus after receiving infliximab for Crohn's disease, with symptoms persisting even after discontinuation.
January 2023 in “Endocrine Journal” This review discusses the challenges in optimizing glucocorticoid treatment for classic 21-hydroxylase deficiency, emphasizing individualized care and the need for comprehensive management, but presents no new findings.
August 2020 in “Current psychopharmacology” In this study, neurotrophic factors, synaptic plasticity, and neurogenesis changed in the hippocampus of rats during pregnancy, lactation, and pup deprivation, potentially influencing maternal care.
January 2017 in “Springer eBooks” Understanding genes and hormones is crucial for managing male puberty and sex development disorders.
November 2016 in “Elsevier eBooks” This chapter reviews genetic defects in female sexual differentiation, focusing on 46,XX disorders of sex development and the impact of genetic factors and sex steroids on development, but reports no new clinical findings.
September 2024 in “Cureus” This study found that systemic lupus erythematosus predominantly affects young adults, with diverse symptoms including mucocutaneous and renal involvement, and highlights the significance of early detection for improved management.
September 2022 in “Health and Medical Journal” This case report describes a 19-year-old woman with systemic lupus erythematosus and telogen effluvium, who experienced new hair growth and increased hair density after 90 days of treatment with 2% topical minoxidil and oral keratin-based antioxidants.
12 citations
,
June 2020 in “Lupus” This study found that treating a murine model of systemic lupus erythematosus with early and optimally dosed mesenchymal stem cells effectively suppressed disease severity.
9 citations
,
January 2020 in “Rheumatology Advances in Practice” In this study, SLE was found to be uncommon among patients with rheumatological complaints in Uganda, with a notable overlap with rheumatoid arthritis and frequent presentation of complications.
3 citations
,
November 2022 in “The Egyptian Rheumatologist” This case report describes a rare instance where a young woman initially presented with macrophage activation syndrome as the first sign of systemic lupus erythematosus, and ultimately experienced multiorgan failure and death.
3 citations
,
June 2020 in “Open access rheumatology” This case report reviews the management of Rowell syndrome in a patient initially diagnosed with Rhupus syndrome and highlights their development of erythema multiforme after certain medications.
3 citations
,
February 2020 in “The Egyptian Rheumatologist” This case report from Tishreen Hospital describes the rare presentation of lupus erythematosus tumidus and autoimmune thyroid dysfunction as initial manifestations of systemic lupus erythematosus, highlighting the importance of early diagnosis for better outcomes.
2 citations
,
December 2023 in “Mediterranean Journal of Rheumatology” This study reports that late onset systemic lupus erythematosus in India shows distinct clinical and serological characteristics compared to young onset cases, particularly in symptoms such as interstitial lung disease and autoantibody profiles.
1 citations
,
September 2023 in “International Journal of Women’s Dermatology” This article discusses the teratogenic risks of skin condition treatments for individuals with DSD and notes that testosterone replacement, often used in this population, may cause acne.
1 citations
,
January 2022 in “Open Access Macedonian Journal of Medical Sciences” This case report highlights that healthcare providers should consider the possibility of systemic lupus erythematosus in children with immune thrombocytopenia.
May 2025 in “The Journal of Rheumatology” In this case report, a woman with unexplained hair loss and high ANA levels developed systemic lupus erythematosus, highlighting the importance of monitoring autoantibodies for early lupus detection and management.
March 2025 in “Health Science Reports” In this study, SLE was found to be more prevalent among Iraqi women, with photosensitivity, hair loss, and malar rash as common symptoms, contributing to the understanding of SLE patterns globally.
April 2023 in “Research Square (Research Square)” This study found that lower GPX4 mRNA levels in polymorphonuclear neutrophils of systemic lupus erythematosus patients were negatively associated with disease activity and serological markers, suggesting a diagnostic value for GPX4 mRNA.