4 citations
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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.
January 2017 in “Springer eBooks” Understanding genes and hormones is crucial for managing male puberty and sex development disorders.
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.
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.
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.
September 2020 in “Journal of Health, Medicine and Nursing” This case report describes a 10-year-old twin boy with proximal hypospadias and undescended testis, highlighting the diagnostic and treatment evaluations for associated sex development disorders.
June 2026 in “The Journal of Sexual Medicine” This case report describes an extremely rare instance of seminoma in an adult with SRY-negative 46,XX testicular disorder of sex development, uniquely presenting as acute abdomen due to gonadal torsion.
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.
September 2026 in “British Journal of Haematology” This study found that the KLF1 E325K mutation in children with congenital dyserythropoietic anemia may lead to male sexual differentiation issues, including 46,XY complete sex reversal, possibly due to combined genetic factors affecting FGF9 expression.
2 citations
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July 2022 in “Frontiers in Veterinary Science” This case report describes a rare instance of a Chinese Crested dog with leukocyte chimerism, normal female external genitalia, and hormonally active Sertoli cell tumors, demonstrating surgery as a curative treatment option.
September 2024 in “International Journal of Molecular Sciences” This study found that administering a supraphysiological dose of testosterone to female rats significantly reduced estrogen and progesterone levels, disrupted sex steroid receptor expression, and interfered with the embryonic implantation window, indicating potential implications for androgen-related endometrial conditions.
January 2017 in “Elsevier eBooks” Sex hormones affect reproduction, sexual development, and oral health, and it's important for dental practitioners to understand their effects and interactions.
18 citations
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March 2014 in “Journal of Pharmacological and Toxicological Methods” This study found that ovariectomized and finasteride-treated rats showed significant tear film deficiency and downregulation of sex steroid receptors in ocular tissues, suggesting potential models for studying dry eye disorders.
9 citations
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October 2017 in “Translational pediatrics” This review examines the skin manifestations of various endocrine disorders, highlighting their underlying pathophysiology and impact on an individual's health and quality of life, without reporting new research findings.
1 citations
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September 2019 in “Steroids” In this study, genetic testing confirmed the diagnosis of Androgen insensitivity syndrome in most CAIS patients in Tunisia and identified two previously unreported mutations in the androgen receptor gene.
1 citations
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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.
August 2025 in “American Journal of Case Reports” In this case report, researchers describe a 13-year-old phenotypic female with 46,XY karyotype, previously misdiagnosed with androgen insensitivity syndrome, who was later identified to have 17-beta-hydroxysteroid dehydrogenase type 3 deficiency, underscoring the importance of genetic and hormonal tests for accurate diagnosis of 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.
18 citations
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October 2021 in “Frontiers in Physiology” This review summarizes recent research on the molecular properties and functions of L-PGDS and PGD2, but reports no new findings, highlighting their pathophysiological roles and guiding future studies.
1 citations
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August 2015 in “AACE Clinical Case Reports” This case report identifies a novel AR gene mutation in an adolescent with primary amenorrhea, suggesting that CAIS should be considered when evaluating patients with a female phenotype and breast development.
76 citations
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October 2016 in “Clinics in dermatology” This review discusses the hormonal and genetic factors influencing acne development, emphasizing the role of androgens and insulin signaling but reports no new clinical results.
September 2021 in “Physiology News” This abstract provides template specifications for design materials but reports no new research findings.
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.
1 citations
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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.
63 citations
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December 2010 in “Journal of Endocrinology” This study found that decreased allopregnanolone levels through inhibition or intrauterine growth restriction in guinea pigs were linked to altered brain development markers, suggesting a role for neurosteroids in fetal brain protection and development.
20 citations
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June 2007 in “Recent Patents on Endocrine, Metabolic & Immune Drug Discovery” This review summarizes recent research and patents on 17β-HSD3, 17β-HSD5, and 3α-HSD3 inhibitors, suggesting their potential in treating androgen-dependent diseases, but reports no new clinical results.
18 citations
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February 2006 in “Brain & development” This case study reports successful treatment of a 19-year-old with Satoyoshi syndrome using a combination of carbamazepine, methotrexate, prednisolone, and sex-steroids, improving muscle spasms, alopecia, and quality of life.
December 2022 in “Cureus” This review discusses the hormonal impact on hair growth and the relationship between endocrine disorders and hair changes, reporting no new clinical results.
January 2024 in “Al-Ameed journal for medical research and health sciences” This review summarizes the latest evidence on testosterone, detailing its clinical indications, diagnostic tests, and impacts on various male organs, while also noting its association with aging, metabolic disorders, and increased mortality risk due to androgen deficiency.
2 citations
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January 2000 in “Pediatrics in review” This article discusses diagnostic evaluations and management strategies for isosexual precocious puberty, emphasizing the importance of accurate identification and appropriate treatment, but it provides no new clinical findings.