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.
This genetic study identified a potential interval for the Marie Unna hypotrichosis gene but found no mutations in the nearby hr gene, suggesting its involvement remains unconfirmed.
3 citations
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May 2012 in “BMC Endocrine Disorders” This article presents a unique case of post-partum panhypopituitarism and autoimmune conditions in a 37-year-old woman from Africa, emphasizing the need for early diagnosis and treatment to improve outcomes in similar settings.
88 citations
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September 2003 in “Clinical endocrinology” This review discusses the diagnosis, management, and hormone treatment of transsexual individuals, and examines the risks and effects of cross-sex hormone therapy without presenting new clinical results.
October 2023 in “Journal of the Endocrine Society” This case report describes ALP elevation in a patient with severe OA that normalized after bilateral knee replacements, highlighting a potential link between OA and ALP levels.
2 citations
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March 2021 in “Cutis” This article highlights that permanent chemotherapy-induced alopecia can occur and is more commonly associated with taxane therapy, advising awareness among patients and clinicians.
January 2025 in “Case Reports in Endocrinology” This paper discusses four rare causes of hyperandrogenism in women, emphasizing the importance of detailed biochemical testing and invasive diagnostic tools when imaging fails to identify ovarian tumors.
January 2022 in “Journal of Morphological Sciences” This case report presents a 60-year-old woman with virilization and elevated adrenal androgens, where a bilateral salpingo-oophorectomy confirmed ovarian steroid cell tumor NOS, and her symptoms resolved post-operatively.
53 citations
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April 2016 in “PubMed” This review discusses the relationship between PCOS and hirsutism, exploring inflammatory markers and treatment options, and concludes that combining metformin with OCP may benefit both normal weight and obese PCOS patients.
January 2022 in “Dubai diabetes and endocrinology journal/Dubai diabetes & endocrinology journal” This case report describes a 16-year-old girl with HAIR-AN syndrome requiring a multidisciplinary approach, including lifestyle changes and hormonal treatments, to manage symptoms and prevent systemic effects.
January 2020 in “Open Journal of Obstetrics and Gynecology” This study found that hirsutism, acne, acanthosis nigricans, and seborrheic dermatitis may serve as reliable cutaneous indicators of PCOS in women.
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.
October 2024 in “Journal of the Endocrine Society” This study found that certain CYP21A2 mutations significantly reduce enzyme activity, contributing to non-classic congenital adrenal hyperplasia phenotypes, which may aid in enhancing diagnosis and treatment strategies.
6 citations
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January 2010 in “Case Reports” This study describes the case of a Filipino woman with virilisation, where a rare ovarian Leydig cell tumour was identified and removed, normalizing her testosterone levels.
April 2020 in “Journal of the Endocrine Society” This case report describes a 34-year-old woman with pituitary stalk interruption syndrome, highlighting the need for long-term follow-up due to potential progression from isolated hormonal deficiencies to pan-hypopituitarism.
January 2017 in “Open Journal of Endocrine and Metabolic Diseases” This case report identifies an adolescent with symptoms indicative of Dunnigan-type partial lipodystrophy, emphasizing the need for early diagnosis to manage associated metabolic complications and improve self-esteem.
April 2019 in “Journal of the Endocrine Society” This case study highlights the late diagnosis of complete androgen insensitivity syndrome in a 31-year-old woman, emphasizing the psychological impact and need for individualized treatment guidelines.
11 citations
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January 2013 in “Indian Journal of Endocrinology and Metabolism” This case study describes an extremely rare instance of androgen-secreting adrenocortical carcinoma in a patient with non-classical congenital adrenal hyperplasia.
1 citations
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August 2021 in “Педиатр” This review discusses the skin conditions associated with endocrine diseases in children and adolescents, emphasizing their importance in early diagnosis and treatment, but presents no new clinical findings.
13 citations
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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.
April 2023 in “JOJ dermatology & cosmetics” In this study, researchers highlighted the complexity of managing psychocutaneous disorders, emphasizing the need for a multidisciplinary approach involving dermatologists, psychiatrists, family physicians, and social support to address associated psychiatric diagnoses, risk factors like suicide, and ensure effective treatment.
October 2025 in “Journal of the Endocrine Society” This case study reported a unique instance of a benign adrenal adenoma co-secreting cortisol and DHEA-S, which initially mimicked PCOS symptoms. Surgical removal resulted in significant clinical improvement, confirming the diagnosis of cyclic adrenal Cushing's syndrome.
1 citations
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November 2023 in “Journal of neurology” This study reports a case of a patient with neuromyelitis optica spectrum disorders treated with eculizumab who developed fatal sepsis after insulin resistance emerged.
January 2025 in “Human Reproduction Open” This study found that approximately 26% of women with Type 1 diabetes have undiagnosed androgen disorders, with polycystic ovary syndrome being the most common, particularly in those with premenarcheal onset of diabetes.
8 citations
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January 2009 in “Indian Journal of Dermatology, Venereology and Leprology” Finasteride can cause rare breast growth side effect, with varying recovery after stopping.
2 citations
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September 2024 in “Asian Journal of Andrology” In a retrospective cohort of patients with steroid 5 α-reductase 2 deficiency, this study identified seven novel genetic variants in the SRD5A2 gene, expanding the variant database and contributing to improved diagnostic and therapeutic approaches for the condition.
20 citations
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December 2020 in “Frontiers in Immunology” This study found that certain T cell-associated genes were upregulated in dogs with Vogt-Koyanagi-Harada syndrome and vitiligo, suggesting a shared immunopathogenesis with humans.
March 2023 in “International journal of trichology” This review discusses genetic conditions linked to complete scalp alopecia in children, identifying six genetic causes, but reports no new clinical results.
3 citations
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November 2010 in “Rheumatic Diseases Clinics of North America” This article reviews how normal pregnancy changes can mimic rheumatologic disorders, emphasizing the importance of distinguishing these from true autoimmune inflammation, but reports no new evidence.
January 2025 in “Frontiers in Immunology” This case report details a rare instance of a young male with coexisting autoimmune polyendocrine syndrome type 2 and anti-GAD65 antibody-associated stiff person syndrome, where symptoms improved by adding intravenous immunoglobulin therapy, emphasizing the importance of awareness for early diagnosis and treatment.