April 2017 in “Turkish Journal of Pediatric Disease” Careful diagnosis is crucial in premature pubarche cases, as 20% have other conditions.
November 2022 in “Journal of the Endocrine Society” A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
10 citations
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December 2018 in “Medical Science Monitor” The MAPK/ERK pathway is crucial in controlling cell growth and death in finasteride-induced hypospadias.
1 citations
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September 2017 in “Zhonghua neifenmi daixie zazhi” Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.
2 citations
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March 2016 in “Serbian Journal of Dermatology and Venerology” A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
7 citations
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July 2006 in “Journal of cutaneous pathology” A 21-year-old had a rare developmental anomaly with a misplaced sebaceous gland in a hair follicle.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
March 2021 in “AACE clinical case reports” A man with both Klinefelter syndrome and primary hyperparathyroidism showed a rare combination of symptoms and genetic patterns.
August 2025 in “American Journal of Case Reports” Accurate diagnosis and early specialist referral are crucial for managing 46,XY Disorders of Sex Development.
January 2026 in “In Vivo” People with hidradenitis suppurativa have a higher risk of kidney stones.
1 citations
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October 2022 in “Curēus” Diagnosing simple-virilizing congenital adrenal hyperplasia can be difficult and requires thorough testing and expert advice.
Long-term use of seizure medications can disrupt calcium metabolism, but this can be treated with vitamin D or UV light and does not affect seizure control.
Hair loss should be medically treated, as non-medical treatments are ineffective and hair loss can indicate serious health issues.
Jockeys using diuretics without potassium supplements can face health problems.
April 2020 in “Journal of the Endocrine Society” The patient with a misplaced pituitary gland and interrupted pituitary stalk is being treated with hormone replacement.
46 citations
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December 1992 in “The Journal of Steroid Biochemistry and Molecular Biology” Affected males are born with ambiguous genitalia, raised as females, but develop male traits at puberty due to enzyme deficiency.
January 2020 in “Research Portal Denmark” A short male anogenital distance may indicate incomplete masculinization due to disrupted androgen action.
20 citations
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January 2008 in “BJU international” Split-thickness skin grafts are a good alternative for urethral reconstruction when buccal grafts can't be used.
January 2005 in “Journal of Cutaneous Pathology” A unique type of complex cyst was found on a man's scrotum.
4 citations
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October 2023 in “Children” Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
August 2022 in “Frontiers in genetics” A new genetic change in the DSC3 gene is linked to a rare condition causing hair loss and skin blisters in a child.
6 citations
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March 2010 in “Journal of plastic, reconstructive & aesthetic surgery” Laser treatment can fix skin color issues after syndactyly surgery.
4 citations
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January 2015 in “Case reports in urology” An 8-year-old boy recovered from a rare case of penile tourniquet syndrome after hair removal surgery.
9 citations
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July 2007 in “PubMed” Atrazine causes birth defects in rats, and finasteride can reliably create a hypospadias model.
September 2023 in “Acta dermato-venereologica” Pilonidal sinus disease is linked to more severe hidradenitis suppurativa.
September 2022 in “Frontiers in genetics” A Chinese male with a new genetic mutation has a skin condition and severe urinary issues, with treatments having mixed success.
86 citations
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March 1993 in “Toxicology and Applied Pharmacology” Finasteride affects male rat genitalia development, causing abnormalities during specific pregnancy days.
January 2026 in “Pakistan journal of urology.” Awareness of Penile Thread Tourniquet Syndrome is crucial for preventing severe complications in children.
June 2021 in “International journal of research in dermatology” A boy and his father with hereditary hypotrichosis simplex were treated for hair loss, but the treatment result is unknown.
1 citations
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March 2015 in “Journal of the European Academy of Dermatology and Venereology” A clinically suspected melanoma appeared benign under the microscope but was confirmed by specific tests and a rare mutation.