February 2026 in “Advanced Science” TTNPB helps turn stem cells into neural stem cells, improving depression-like behaviors in rats.
November 2025 in “Indian Dermatology Online Journal” Clouston syndrome can lead to skin cancer, so monitoring is crucial.
January 2025 in “The Journal of Clinical Endocrinology & Metabolism” Diagnosing PCOS is challenging due to its complex and varied symptoms.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
November 2024 in “Burns & Trauma” Skin organoids help improve wound healing and tissue repair.
August 2024 in “The Journal of Urology” The 2024 guideline updates recommendations for genetic testing, imaging, and sperm retrieval in male infertility.
June 2024 in “Clinical and Experimental Obstetrics & Gynecology” Blood count parameters are not reliable for predicting recurrent implantation failure.
December 2023 in “Indian Journal of Endocrinology and Metabolism” Early diagnosis, genetic testing, and innovative treatments are crucial for managing complex medical conditions.
June 2023 in “Journal of personalized medicine” Androgen treatment with dihydrotestosterone may help maintain height in patients with 5-α-reductase type 2 deficiency, especially before puberty.
May 2023 in “IntechOpen eBooks” More research is needed to understand how testosterone is maintained in adult males.
188 citations
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June 1998 in “Molecular cell” Researchers created a mouse with the same mutation as humans with trichothiodystrophy, showing similar symptoms and confirming the condition is due to defects in DNA repair and gene activity.
25 citations
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July 2015 in “EMBO Reports” Tmem50b and 2610305D13Rik genes play key roles in early mouse embryo development.
18 citations
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August 2015 in “International Journal of Molecular Sciences” Ovine hair follicle stem cells can regenerate haired skin and may improve wool production.
11 citations
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February 2019 in “Stem cells international” Skin-derived stem cells grow faster and are easier to obtain than hair follicle stem cells, but both can become various cell types.
9 citations
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October 2017 in “Translational pediatrics” Pediatric endocrinologists should provide early fertility counseling and preservation options to young patients at risk of infertility.
June 2026 in “The Journal of Sexual Medicine” Rare seminoma found in a 33-year-old woman with atypical genitalia and no Y chromosome.
May 2021 in “Journal of the Endocrine Society” The 18-year-old girl likely has a condition called müllerian agenesis, which caused her to not have a uterus and experience no menstrual periods.
174 citations
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July 2003 in “The Journal of Clinical Endocrinology & Metabolism” Five new mutations in the androgen receptor gene were found, helping to understand androgen insensitivity syndrome better.
September 2022 in “Annals of medicine and surgery” Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
September 2006 in “Pediatrics in Review” Early diagnosis and treatment are crucial for complex medical conditions.
February 2009 in “Journal of The American Academy of Dermatology” A man with Klinefelter syndrome had a leg ulcer that didn't heal well, even with treatment.
1 citations
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April 2022 in “AACE clinical case reports” A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
5 citations
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April 2011 in “The Lancet” Untreated congenital adrenal hyperplasia can lead to complications like stroke and needs glucocorticoid treatment.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” Robertsonian translocation can cause recurrent miscarriages.
28 citations
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June 1998 in “Clinical Genetics” Ambras syndrome's genetic cause is unknown, as it isn't linked to androgen levels.
11 citations
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September 2011 in “British Journal of Dermatology” New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
1 citations
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August 2015 in “AACE Clinical Case Reports” A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
April 2019 in “Journal of Investigative Dermatology” Y27632 increases cell growth through EGFR signaling, not ROCK1/2.
December 2024 in “Kırıkkale Üniversitesi Tıp Fakültesi Dergisi” Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.