June 2026 in “The Journal of Sexual Medicine” This case report describes an extremely rare instance of seminoma in a 33-year-old phenotypic female with SRY-negative 46,XX testicular disorder of sex development (DSD), presenting uniquely as acute abdomen due to gonadal torsion. The patient exhibited ambiguous genitalia, primary amenorrhea, and male-pattern androgenic alopecia. Emergency surgery revealed a seminoma in the right gonad, confirmed by pathology and chromosomal analysis showing a 46,XX karyotype without SRY or Y-chromosome sequences. This case underscores the importance of considering DSD in adults with atypical genitalia and primary amenorrhea, necessitating comprehensive karyotype and pathological evaluations. A multidisciplinary approach is essential for managing such rare presentations to address oncologic, endocrine, and psychological needs effectively.
September 2023 in “Research Square (Research Square)” The document concludes that the new expert system can assess the risk of PCOS effectively despite uncertainties in diagnosis.
January 2025 in “Case Reports in Oncological Medicine” Consider Sertoli-Leydig cell tumors in Peutz-Jeghers syndrome patients with adnexal masses.
1 citations
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March 2012 in “Journal of pediatric & adolescent gynecology” A young girl with high testosterone was thought to have a tumor but actually had PCOS, which was treated with birth control pills.
January 2006 in “Dianzi xianwei xuebao” Netherton syndrome causes specific skin and hair changes that help in early diagnosis.
18 citations
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January 2018 in “BMC dermatology” A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
3 citations
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December 2022 in “The Neurologist” CARASIL, a rare genetic disorder, was confirmed in an Arabic woman, highlighting its rarity and need for stroke prevention.
November 2022 in “Journal of the Endocrine Society” A man's rare adrenal tumor caused feminization and white hair, was removed surgically, and improved after treatment.
29 citations
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October 2019 in “Journal of dermatological science” Studying premature aging syndromes helps understand human aging and suggests potential treatments.
5 citations
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September 2021 in “Clinical case reports” GLPLS is a rare skin condition with specific hair loss and skin symptoms.
April 2017 in “Turkish Journal of Pediatric Disease” Careful diagnosis is crucial in premature pubarche cases, as 20% have other conditions.
17 citations
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April 1997 in “American Journal of Dermatopathology” PC-associated alopecia has unique microscopic features.
2 citations
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August 2012 in “Journal of the American Academy of Dermatology” Two patients with the same genetic mutation had both blistering skin and easily pulled out hair.
9 citations
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August 1986 in “Archives of Pediatrics and Adolescent Medicine” Familial sexual precocity in girls may be more common than previously thought.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” Robertsonian translocation can cause recurrent miscarriages.
PNH can occur in patients with SLE, so doctors should be aware of this.
26 citations
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September 1969 in “The American journal of medicine” Cronkhite-Canada Syndrome often leads to death within 6-18 months.
53 citations
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January 2006 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” Reduced AR gene methylation may cause early pubic hair growth in girls.
January 2023 in “Zenodo (CERN European Organization for Nuclear Research)” PCOS is a major health issue affecting multiple hormone-producing organs.
5 citations
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February 2003 in “American Journal of Medical Genetics Part A” A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
2 citations
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August 2013 in “British Journal of Dermatology” Chemotherapy improved a girl's painful foot condition linked to pachyonychia congenita.
2 citations
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June 2020 in “Dermatology and therapy” Narrowband-UVB phototherapy successfully treated a rare case of Graham Little-Piccardi-Lassueur syndrome.
5 citations
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May 2011 in “Movement Disorders” Finasteride significantly reduced tics and obsessive-compulsive symptoms in Tourette syndrome patients.
January 2025 in “International Journal of Scientific Research” 12.5% of women with PCOS experience moderate hair loss, highlighting the need for early detection and management.
2 citations
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January 2018 in “European journal of pediatric surgery reports” A baby girl's hair turned straight on one side due to a neck tumor and surgery, but it returned to curly as she recovered.
December 2024 in “Archiv Euromedica” Early diagnosis and personalized treatment are crucial for managing PCOS and preventing complications.
October 2023 in “Indian Journal of Ophthalmology - Case Reports” Kallmann syndrome can cause eye issues and other health problems, requiring various treatments.
December 2021 in “THE THERAPIST (Journal of Therapies & Rehabilitation Sciences)” PCOS is common, affects fertility, and needs early diagnosis and lifestyle changes for management.
June 2024 in “Journal of Psychiatry Spectrum” Iron deficiency can cause psychiatric symptoms that improve with proper treatment.
December 2025 in “International Journal of Dermatology” Björnstad syndrome can cause hair loss similar to androgenetic alopecia, and treatment with baricitinib and minoxidil may help.