28 citations
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July 2017 in “Journal of Endocrinological Investigation” Early onset baldness in men may indicate a condition similar to PCOS, linked to heart disease, diabetes, and prostate issues.
23 citations
,
December 2008 in “Pediatric neurology” The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.
2 citations
,
August 1999 in “PubMed” 41 citations
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January 2000 in “Hormone Research in Paediatrics” Cortisone reductase deficiency can cause high androgen and cortisol levels and may be missed in women with similar symptoms.
17 citations
,
February 2014 in “Pediatric Research” November 2012 in “Experimental and Clinical Endocrinology & Diabetes” A new genetic mutation causes severe Leydig cell hypoplasia, affecting sexual development.
10 citations
,
January 1995 in “Dermatology” Dermatologists should consider congenital syndromes like TRPS in young adults with early hair loss.
1 citations
,
January 2020 in “Skin appendage disorders” A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.
19 citations
,
February 2012 in “International Journal of Urology” In Japan, sex reassignment surgery for gender identity disorder faces challenges and needs better medical support and education.
August 2020 in “International Journal of Research in Dermatology” Clouston's syndrome is a rare disorder affecting nails, hair, teeth, and skin, caused by a gene mutation, and currently has no treatment, only supportive care.
August 2022 in “IntechOpen eBooks” Congenital Adrenal Hyperplasia is a rare inherited disease causing hormone imbalances, affecting growth, fertility, and heart health, diagnosed through blood tests and treated with medication and lifestyle changes.
Hidradenitis Suppurativa has genetic links, with certain gene mutations more common in patients and a third of cases having a family history.
October 2024 in “Journal of the Endocrine Society” Ovarian steroid cell tumors can mimic adrenal hyperplasia, and surgery can normalize hormone levels.
78 citations
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August 1996 in “The Journal of Clinical Endocrinology & Metabolism” The same gene mutation can cause different symptoms in family members.
5 citations
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June 2020 in “Journal of Endocrinological Investigation” Women with congenital adrenal hyperplasia (CAH) have more sexual function issues than those with polycystic ovary syndrome (PCOS), but physical activity can improve sexual functioning in all women.
3 citations
,
April 2019 in “Journal of the Endocrine Society” Satoyoshi syndrome can occur without causing premature ovarian failure.
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.
7 citations
,
June 2019 in “Australasian Journal of Dermatology” AGA in children needs careful diagnosis due to low androgen levels and possible other causes.
May 2024 in “International journal of medicine and psychology.” Ganser syndrome may result from both organic and psychogenic factors.
December 2016 in “Springer eBooks” Chrousos Syndrome is caused by mutations that make the body less sensitive to glucocorticoids, leading to various symptoms and requiring high-dose treatment.
January 2025 in “JCEM Case Reports” Diagnosing and managing Glucocorticoid Resistance Syndrome is complex due to genetic differences and varied symptoms.
September 2021 in “Physiology News” Conditions affecting sex development show that sexual diversity is a natural part of human variation.
7 citations
,
March 2012 in “European Journal of Pediatrics” A boy with a rare skin condition and kidney disease improved with cyclosporine after steroids failed, suggesting a new treatment approach.
April 2019 in “Journal of the Endocrine Society” Rapid virilization should be checked for possible ovarian or adrenal cancer.
January 2026 in “Elsevier eBooks” 93 citations
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January 2000 in “Annals of Medicine” Mutations in the androgen receptor gene cause various disorders.
April 2019 in “Journal of the Endocrine Society” Mosaic Klinefelter syndrome can affect male fertility and may be missed in routine tests.
January 2015 in “프로그램북(구 초록집)” A 25-year-old man had an unusual case of benign skin tumors and hair loss.
2 citations
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September 1971 in “Metabolism, clinical and experimental” Dihydrotestosterone has a reduced effect on muscle-building in people with testicular feminization syndrome, especially after their gonads are removed.
January 2024 in “Wiadomości Lekarskie” A multidisciplinary approach is crucial for managing Silver-Russell syndrome effectively.