December 2021 in “Aegean journal of obstetrics and gynecology” A woman's male-like physical changes were caused by two rare ovarian conditions.
April 2019 in “Journal of the Endocrine Society” A woman's severe male-like symptoms were caused by a rare, benign tumor in her ovary that produced male hormones.
January 2016 in “AACE Clinical Case Reports” Treatment restored normal sexual characteristics and blood condition in a patient with testicular cancer.
2 citations
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October 2022 in “Frontiers in genetics” Late diagnosis of congenital adrenal hyperplasia can greatly affect physical development, gender identity, and sexual health.
2 citations
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February 2021 in “Endocrinology, diabetes & metabolism case reports” A teenage girl had both a rare ovarian tumor and a severe form of polycystic ovarian syndrome.
January 2011 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Hyperthyroidism can hide signs of high androgen levels in females.
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.
June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” Robertsonian translocation can cause recurrent miscarriages.
January 2025 in “BMJ Case Reports” Precocious puberty can signal familial adenomatous polyposis.
June 2020 in “AACE clinical case reports” A woman's severe male hormone excess was caused by a small, hard-to-find ovarian tumor.
15 citations
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May 2010 in “Pediatrics in Review” Delayed puberty often runs in families, can affect growth, and may need hormone treatment.
April 2020 in “Journal of the Endocrine Society” Early diagnosis of PSIS can lead to normal height with growth hormone and testosterone treatment.
2 citations
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July 2016 in “Pharmacopsychiatry” A person with Turner Syndrome showed severe schizophrenia that didn't respond to treatment and had brain shrinkage.
January 2007 in “Revista del Centro Dermatológico Pascua” A 2-year-old boy was diagnosed with a rare genetic condition causing fragile hair, intellectual issues, and short stature.
December 2025 in “Meditsinskiy sovet = Medical Council” Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
July 2025 in “AACE Endocrinology and Diabetes” Ovarian hyperthecosis caused high testosterone and virilization symptoms in a 60-year-old woman, which improved after surgery.
April 2020 in “Journal of the Endocrine Society” Non-classic congenital adrenal hyperplasia (NCCAH) can mimic PCOS and requires genetic testing for proper diagnosis and treatment.
A new syndrome, Teelwani Syndrome, combines features of two rare genetic disorders.
9 citations
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January 2007 in “Endocrine Practice” A woman's male-like symptoms and high testosterone were due to ovarian hilus-cell hyperplasia, which improved after surgery.
July 2020 in “Endocrine practice” A 13-year-old boy with Cushing syndrome has high cortisol levels from a pituitary gland issue and underdeveloped sexual characteristics.
April 2016 in “Journal of The American Academy of Dermatology” Women with PCOS often have hirsutism and skin changes, which indicate a need for metabolic health checks.
November 2022 in “Journal of the Endocrine Society” A transman experienced lasting virilization symptoms after stopping testosterone, which were resolved with estradiol treatment.
1 citations
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January 2018 in “Journal of SAFOMS” A rare ovarian tumor can cause unusual male-like symptoms, but surgery usually leads to a good outcome.
October 2025 in “Journal of the Endocrine Society” A rare ovarian tumor was found in a young woman with a genetic fat disorder.
21 citations
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January 2008 in “Journal of Pediatric Endocrinology and Metabolism” Anastrozole and cyproterone acetate treatment can help increase adult height in boys with testotoxicosis.
October 2007 in “Clinical Biochemistry” New genotype linked to non-classical congenital adrenal hyperplasia found in Italian siblings.
17 citations
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April 2009 in “Andrologia” A boy's early puberty caused by a testicular tumor returned to normal after surgery.
2 citations
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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.
April 2019 in “Journal of the Endocrine Society” A young patient with unusual insulin resistance and high testosterone levels had a rare INSR gene mutation.
September 2022 in “Indian Journal of Paediatric Dermatology” Clouston syndrome is inherited in an autosomal dominant pattern and caused by a specific gene mutation, with no current treatment available.