54 citations
,
November 2001 in “Urology” The length of the CAG repeat in the androgen receptor gene affects the risk and progression of prostate cancer, BPH, infertility, and undermasculinized genitalia.
December 2015 in “PLOS Genetics” July 2005 in “The American Journal of Human Genetics” The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
53 citations
,
July 2002 in “Journal of Investigative Dermatology” The Dfl mutation in mice causes poor sebaceous gland function and complete hair loss.
September 2024 in “International Journal of Molecular Sciences” High doses of testosterone disrupt hormone levels and receptor expression in the uterus, affecting fertility.
5 citations
,
October 2014 in “Gynecological Endocrinology” Triptorelin helps evaluate hormone production in Sertoli-Leydig cell tumors.
November 2022 in “Journal of the Endocrine Society” A transman experienced lasting virilization symptoms after stopping testosterone, which were resolved with estradiol treatment.
31 citations
,
September 2020 in “Clinical endocrinology” Some antiandrogens may lower testosterone better than others, but it's unclear which is best for feminization in transgender women; more research is needed.
34 citations
,
January 2004 in “PubMed” DHT deficiency in rats reduces sperm content and affects testis structure over time.
April 2019 in “Journal of the Endocrine Society” A 31-year-old woman was diagnosed with Complete Androgen Insensitivity Syndrome much later than usual, leading to a call for earlier detection and treatment guidelines.
9 citations
,
November 2019 in “Cell calcium” The STIM1 R304W mutation in mice leads to bone changes and teeth hair growth.
3 citations
,
January 1985 in “Acta Obstetricia Et Gynecologica Scandinavica” A rare ovarian tumor caused early puberty signs in a 1-year-old girl, but surgery reduced hormone levels.
6 citations
,
April 2019 in “Endocrinology and Metabolism Clinics of North America” Testosterone therapy for transmasculine individuals is generally safe with medical supervision, improves mental health, and has mixed effects on physical health.
March 2016 in “The Journal of Urology” The discovery of 5α-reductase deficiency in guevedoces led to the development of important urologic medications.
December 2021 in “Aegean journal of obstetrics and gynecology” A woman's male-like physical changes were caused by two rare ovarian conditions.
14 citations
,
March 1995 in “Journal of cell science” SV40 T antigen in hair follicles causes abnormal hair and health issues in mice.
5 citations
,
December 2018 in “Frontiers in Endocrinology” Differences in androgen receptor expression and tissue properties may lead to higher cryptorchidism risk in certain rats.
October 2023 in “Journal of the Endocrine Society” A woman's ovarian fibroma caused high testosterone levels, which normalized after surgery.
April 2026 in “Communications Biology” The development of breeding tubercles in male zebrafish relies on a specific enzyme that processes hormones.
July 2021 in “Advances in laboratory medicine” Diagnosing sex development disorders requires combining medical history, physical exams, imaging, lab tests, and genetic data.
August 2015 in “International Journal of Genetics and Molecular Biology” Certain genetic markers may increase or decrease prostate cancer risk.
July 2025 in “Journal of Investigative Dermatology” Androgens reduce THY1 in skin cells, leading to less fat, more fibrosis, and worse healing in males.
2 citations
,
September 2007 in “International Journal of Impotence Research” Local testosterone treatment improved sexual desire in a female with fragile X syndrome.
13 citations
,
March 1999 in “Biochemical Journal” Overexpressing SSAT in mice makes them highly sensitive to polyamine analogues, causing liver damage and high mortality.
23 citations
,
March 1958 in “JNCI Journal of the National Cancer Institute” Male-to-female skin grafts in mice are rejected due to sex-linked antigens.
13 citations
,
June 2024 in “Frontiers in Genetics” About 50% of 46, XY DSD cases lack a genetic diagnosis, but advanced sequencing methods improve detection.
30 citations
,
July 2019 in “Endocrinology” Certain HSD3B1 gene types are linked to worse prostate cancer outcomes and affect treatment response and other health conditions.
5 citations
,
January 2020 in “in Vivo” Testosterone changes important cell communication proteins in pregnant rats' uteruses, which might affect pregnancy success.
1 citations
,
November 2024 in “Diabetes Metabolic Syndrome and Obesity” A specific gene variant is linked to severe insulin resistance and hormone imbalance in a teenage girl.
2 citations
,
May 2018 in “Diagnosis” A 68-year-old woman developed male traits due to a tumor in her ovary, which was removed, returning her hormone levels to normal.