November 2024 in “Future Science OA” A rare benign ovarian tumor was found in a pregnant woman, but both mother and baby remained healthy.
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.
October 2024 in “Journal of the Endocrine Society” Leydig cell tumors can cause high testosterone and symptoms like hair loss in postmenopausal women, but surgery can improve these symptoms.
6 citations
,
January 2015 in “Indian Dermatology Online Journal” PEODDN is a rare skin disorder with limited treatment options, best treated with laser therapy.
378 citations
,
November 2011 in “Human reproduction update” Experts recommend using evidence-based methods to diagnose and treat hirsutism, focusing on symptoms and underlying causes.
14 citations
,
March 2022 in “Clinical Endocrinology” The document concludes that a systematic approach is crucial to identify causes of androgen excess in women beyond the most common cause, Polycystic ovary syndrome (PCOS).
7 citations
,
July 1975 in “Acta dermato-venereologica” A patient with Rothmund-Thomson syndrome showed skin changes, hair loss, and dental defects but no cataracts or skeletal issues.
January 2025 in “Case Reports in Genetics” A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
3 citations
,
April 2019 in “Journal of the Endocrine Society” Satoyoshi syndrome can occur without causing premature ovarian failure.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” Different harmful mutations in the CDH3 gene cause HJMD, but symptoms vary among individuals.
October 2025 in “Journal of the Endocrine Society” A rare ovarian tumor was found in a young woman with a genetic fat disorder.
5 citations
,
January 2017 in “Anais brasileiros de dermatologia/Anais Brasileiros de Dermatologia” Porokeratotic eccrine and hair follicle nevus is a very rare skin disorder possibly caused by a GJB2 gene mutation.
11 citations
,
January 2010 in “Journal of oral and maxillofacial surgery” June 2016 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature”
5 citations
,
December 1964 in “Australasian journal of dermatology” Congenital atrichia is a rare condition where children are born without hair, and treatment is often ineffective.
48 citations
,
May 2012 in “Journal of Midwifery & Women's Health” Polycystic Ovary Syndrome is common but often undiagnosed, and early treatment is important to prevent health problems.
42 citations
,
October 2004 in “Experimental and Clinical Endocrinology & Diabetes” The main cause of excessive hair growth in Turkish women is Polycystic ovary syndrome, but in about one fifth of cases, the reason for high male hormone levels is unknown.
July 2011 in “British Journal of Dermatology” Hormone treatment caused hair loss, finasteride helped regrowth.
26 citations
,
August 2008 in “Clinical endocrinology” The document concludes that more multidisciplinary research is needed to understand and treat PCOS, a condition that significantly affects women's health and quality of life.
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.
A 22-year-old woman with a rare genetic condition was successfully treated to develop normal female characteristics and regular menstruation.
November 2025 in “BMC Endocrine Disorders” The TT/DHT ratio may help identify PCOS patients with severe metabolic issues.
4 citations
,
March 1999 in “International Journal of STD & AIDS” Netherton's syndrome can cause frequent bacterial infections beyond just skin issues.
13 citations
,
June 2006 in “Fertility and Sterility” Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.
4 citations
,
June 2019 in “Revista brasileira de ginecologia e obstetrícia” Using only hyperandrogenism to diagnose PCOS can lead to overdiagnosis.
May 2025 in “Journal of the ASEAN Federation of Endocrine Societies” Surgical removal of an adrenal tumor resolved hormonal issues in a young woman.
4 citations
,
January 2016 in “The Turkish Journal of Pediatrics” A 5-year-old girl got a rare case of extra hair growth on her arm after a henna tattoo.
5 citations
,
February 1981 in “Experientia” A new gene causes hairlessness and skin cysts in rats.
December 2022 in “International journal of preventive, curative & community medicine” PCOS is a common hormonal disorder in women, causing symptoms like acne and irregular periods, and is managed with medication and lifestyle changes.
47 citations
,
November 1966 in “Archives of Dermatology” Trichorrhexis nodosa is mainly caused by hair trauma, not a metabolic defect.