January 1983 in “Elsevier eBooks” Masculinization in affected individuals occurs gradually after puberty due to hormone changes.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
53 citations
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May 1996 in “The Journal of Clinical Endocrinology & Metabolism” Different mutations in the 5 alpha-reductase-2 gene were found in affected individuals in the Dominican Republic, suggesting no common ancestry.
April 2025 in “The Indian Journal of Animal Reproduction” Testicular abnormalities in dogs should be treated to prevent complications like seminoma.
7 citations
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August 2012 in “The Journal of Urology” Women with congenital adrenal hyperplasia showed no prostatic growth.
January 2026 in “JCEM Case Reports” Genetics may play a significant role in gender dysphoria.
January 2023 in “Pediatrics International” Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.
March 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” Minoxidil treatment improves heart defects in a DiGeorge syndrome model.
January 2006 in “Zhonghua miniao waike zazhi” Finasteride can reliably cause hypospadias in rabbits.
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.
19 citations
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March 2021 in “Experimental and Therapeutic Medicine” Isotretinoin can cause serious birth defects and needs careful use, especially in pregnant women.
December 1981 in “Pediatric Research” 2 citations
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January 2022 in “The Application of Clinical Genetics” A young Russian girl with Meier-Gorlin syndrome has two new mutations in the CDC6 gene.
March 2024 in “Journal of Animal Reproduciton and Biotechnology” A rare fetal malformation caused difficult birth in a goat, requiring surgery.
November 2022 in “Journal of the Endocrine Society” An 8-year-old boy's early puberty was caused by a rare hormone-secreting brain tumor, which was successfully treated with surgery.
June 2015 in “Sonography” Ultrasound is effective for diagnosing scrotal cysts, and prompt treatment is crucial to prevent severe complications.
2 citations
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July 2023 in “Urology Case Reports” Timely surgery successfully repaired a boy's penis after a hair caused severe damage.
79 citations
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June 1991 in “Journal of Medical Genetics” X-linked mental retardation includes various syndromes with both mental and physical abnormalities.
January 2020 in “Acta dermato-venereologica” People with certain hair disorders may also have missing permanent teeth.
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.
September 2024 in “Pediatrics in Review” Parental support and gender-affirming care are crucial for the mental health of transgender adolescents.
June 2025 in “British Journal of Dermatology” Nail abnormalities in children can indicate deeper health issues.
January 2005 in “Journal of Cutaneous Pathology” A unique type of complex cyst was found on a man's scrotum.
January 2022 in “European journal of anatomy” A man had four testicles, two of which were outside the scrotum and looked like fatty lumps.
March 2024 in “Frontiers in endocrinology” A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
3 citations
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June 2017 in “Reproductive biomedicine online” A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
1 citations
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January 2015 in “Journal of Clinical Toxicology” Babies were mostly born healthy from fathers who took finasteride, but some pregnancies ended early; more research is needed.
3 citations
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December 1991 in “PubMed” The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.