5 citations
,
August 1925 in “Archives of dermatology” An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
9 citations
,
February 2012 in “Clinical Neurology and Neurosurgery” Dystonia may be part of PAS-4 and linked to immune issues.
April 2021 in “Interciencia médica” PCOS is a common condition in women that causes various symptoms and health issues, treatable with lifestyle changes and medication.
April 2023 in “Elsevier eBooks” PCOS is a hormonal disorder causing symptoms like excess hair, acne, irregular periods, and fertility issues.
2 citations
,
January 2016 in “Journal of Steroids & Hormonal Science” Women with PCOS and polycystic ovaries have higher male hormone levels and more insulin resistance, especially if they are overweight.
8 citations
,
November 2012 in “Journal of Endocrinological Investigation” Greek women with classic PCOS are more likely to have metabolic syndrome and insulin resistance than those with newer PCOS types.
April 2024 in “Journal of clinical medicine” Classical PCOS types A and B are most common and linked to higher health risks.
January 2023 in “Revista Paulista de Pediatria” A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
October 2025 in “Journal of the Endocrine Society” A rare ovarian tumor was found in a young woman with a genetic fat disorder.
14 citations
,
September 2014 in “Journal of Pediatric and Adolescent Gynecology” Irregular menstrual cycles in teenagers are linked to a higher risk of polycystic ovary syndrome and metabolic syndrome.
2 citations
,
March 2016 in “Serbian Journal of Dermatology and Venerology” A six-year-old boy with excessive hair growth and other symptoms may have a genetic link on chromosome 17q, requiring regular medical follow-ups.
4 citations
,
May 2020 in “The journal of pediatrics/The Journal of pediatrics” A boy with monilethrix has brittle hair that breaks easily due to a genetic condition, which might improve by puberty.
Early diagnosis and management of Sheehan's syndrome are crucial for improving quality of life and fertility.
48 citations
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January 2003 in “Fertility and Sterility” There's no significant link between the D19S884 marker at the insulin receptor gene and polycystic ovary syndrome.
13 citations
,
May 1996 in “Archives of Disease in Childhood” Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.
8 citations
,
January 2014 in “Indian Journal of Paediatric Dermatology” Congenital atrichia with papular lesions causes permanent hair loss and skin bumps from birth.
January 2017 in “Open Journal of Endocrine and Metabolic Diseases” The document concludes that managing Dunnigan-Type Familial Partial Lipodystrophy involves treating associated health issues and using medications like metformin and leptin replacement.
January 2023 in “Indian dermatology online journal” A boy with Pachyonychia congenita has a confirmed gene mutation, highlighting the need for a local genetic database in India.
81 citations
,
June 2012 in “European journal of human genetics” Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
2 citations
,
August 2015 in “Journal of dermatology” A possible link exists between minimal change nephrotic syndrome and complete hair loss.
8 citations
,
April 2017 in “American Journal of Dermatopathology” Inflammation may cause nail issues in Cronkhite–Canada Syndrome.
1 citations
,
September 2021 in “Frontiers in genetics” A genetic mutation in the DCAF17 gene caused Woodhouse-Sakati syndrome in a Chinese patient from a related family.
November 2025 in “Journal of Skin and Sexually Transmitted Diseases” Trichofolliculoma was found in a person with amniotic band syndrome for the first time.
Alopecia universalis may be linked to Down syndrome due to genes on chromosome 21.
1 citations
,
December 2019 in “American journal of ophthalmology. Case reports” A rare skin condition caused droopy and outward-turning eyelids in a patient.
May 2026 in “Journal of International Medical Research” Atrichia with papular lesions causes irreversible hair loss from infancy and is often misdiagnosed.
257 citations
,
July 2018 in “Obstetrics & Gynecology” PCOS is a complex disorder in women that can lead to various health risks and requires personalized treatment.
6 citations
,
May 2000 in “Pediatric Dermatology” KID syndrome should be reclassified as an ectodermal dysplasia.
32 citations
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June 2019 in “Frontiers in Endocrinology” Polycystic Ovary Syndrome (PCOS) is common in women with conditions like anovulation, hirsutism, hair loss, and type 2 diabetes, and it can lead to health risks like heart disease, obesity, insulin resistance, and depression. Non-Classic Congenital Adrenal Hyperplasia (NC-CAH) is also discussed.
34 citations
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September 2010 in “Clinical and Experimental Dermatology” A new gene mutation linked to KID syndrome was found, expanding genetic knowledge.