46 citations
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November 2014 in “The Journal of Clinical Endocrinology & Metabolism” Men with isolated hypogonadotropic hypogonadism have partial steroid deficiencies, while those with panhypopituitarism have severe deficiencies.
28 citations
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January 1985 in “Journal of the American Academy of Dermatology” A girl with citrullinemia developed pili torti, suggesting a link between the hair condition and the metabolic disorder.
A new genetic mutation was found causing hair and eye issues in a boy.
15 citations
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April 2022 in “Ginekologia Polska” Higher thyroid hormone levels may be linked to certain types of polycystic ovary syndrome.
7 citations
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January 2013 in “Hormone Research in Paediatrics” Ectopic adrenal rests can cause androgen excess after adrenalectomy and may need targeted surgery.
November 2023 in “Frontiers in Neuroendocrinology” Some people experience lasting sexual, psychological, and sleep problems after using finasteride or SSRI antidepressants, possibly due to similar underlying causes.
8 citations
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January 2014 in “Indian Dermatology Online Journal” Trichostasis spinulosa is a common but often unnoticed skin condition involving bundled vellus hairs, especially in people with darker skin or UV exposure.
January 2024 in “Genetics in Medicine Open” Adults with Tatton-Brown-Rahman syndrome may have serious heart problems and need lifelong heart monitoring.
108 citations
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April 2004 in “Medicinal Research Reviews” Steroid sulfatase inhibitors could help treat hormone-related disorders and cancers.
4 citations
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October 2023 in “Children” Early diagnosis and comprehensive care are crucial for managing Focal Dermal Hypoplasia's complex symptoms.
3 citations
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April 2012 in “Bioinformation” Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
December 2025 in “American Journal of Case Reports” Borderline newborn screening results should be carefully evaluated to prevent delayed diagnosis of thyroid issues.
2 citations
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January 1986 in “Dermatology” A woman with Kallman's syndrome also developed alopecia universalis, a condition not previously linked to Kallman's.
October 2024 in “Medicine” Cronkhite-Canada syndrome is rare, has a poor prognosis, and requires early diagnosis and ongoing treatment.
1 citations
,
August 2025 in “European journal of medical research” Subclinical hypothyroidism in women with PCOS affects thyroid and hormone interactions but not ovary structure.
October 2024 in “Journal of the Endocrine Society” Bilateral salpingo-oophorectomy resolved hyperandrogenism in a postmenopausal woman with rare ovarian tumors.
3 citations
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June 2016 in “Gynecological Endocrinology” Doctors used a special blood sampling technique to diagnose a woman's rare ovarian tumor that was producing male hormones.
January 2016 in “Zurich Open Repository and Archive (University of Zurich)” Dietary L-serine supplementation can reduce symptoms of HSAN1 by lowering harmful 1-deoxySL levels.
115 citations
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October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
April 2012 in “Neuropediatrics” Trichothiodystrophy is a rare genetic disorder causing hair issues and sometimes linked to DNA repair defects.
4 citations
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December 2018 in “Case reports in endocrinology” A 63-year-old woman's male-like symptoms were caused by a rare testosterone-producing ovarian tumor, treated by removing her ovaries and fallopian tubes.
1 citations
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November 2022 in “Journal of the Academy of Consultation-Liaison Psychiatry”
15 citations
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May 2014 in “Journal of dermatology” Zouboulis syndrome is a rare condition that helps diagnose monosomy 18p early.
9 citations
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October 1995 in “Clinical Dysmorphology” The family has a unique form of ectodermal dysplasia similar to Clouston syndrome but with different hair and skin symptoms.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” CARASIL can cause different symptoms even with the same genetic mutation.
September 2024 in “Pediatrics in Review” A trichobezoar caused the girl's recurrent intussusception, and surgery plus psychiatric therapy resolved her symptoms.
April 2025 in “Indian Journal of Paediatric Dermatology” Trichorrhexis invaginata can occur with tinea capitis, though it's rare.
December 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” Abnormal contraction of connective tissue in hair follicles causes hair loss by killing off important cells, and treating this could improve hair growth.
October 2024 in “Journal of the Endocrine Society” Rare ovarian tumors can cause hyperandrogenism, even if imaging appears normal.
12 citations
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November 1987 in “Pediatric dermatology” Four children had unmanageable pale blond hair due to uncombable-hair syndrome.