November 2022 in “Journal of the Endocrine Society” A woman's small ovarian tumor causing high androgen levels was missed by several scans but found during surgery.
November 2022 in “Journal of the Endocrine Society” A woman's masculine features were caused by a rare ovarian tumor that produced male hormones.
September 2019 in “Journal of Investigative Dermatology” Sox13 is a new marker for early hair follicle development and differentiation.
49 citations
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January 2018 in “Theranostics” The new skin patch with human matrix and antibiotic improves wound healing.
4 citations
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January 2019 in “Obstetrics & gynecology science” A PET-CT scan successfully located a hard-to-find Leydig cell tumor in a woman with hormonal symptoms.
3 citations
,
December 1975 in “PubMed” ALP and ACP have different roles in dog skin, with ALP aiding growth and maintenance, and ACP involved in breakdown processes.
January 2024 in “Toxicologic Pathology” The skin protects the body, helps heal wounds, stores energy, and supports health.
June 2023 in “British journal of dermatology/British journal of dermatology, Supplement” A woman with rheumatoid arthritis had a unique type of scarring hair loss not caused by infection, requiring early treatment to avoid permanent hair loss.
July 2022 in “L Endocrinologo” A 77-year-old woman with hair loss had high testosterone and 17OH-progesterone levels, but no significant findings on imaging.
Retinoids can cause skin issues and hair loss due to their effects on cell membranes.
October 1984 in “Kidney international” The patient had complex urinary tract issues and ambiguous genitalia, with physical features suggesting a hormonal imbalance.
January 2020 in “Research Portal Denmark” A short male anogenital distance may indicate incomplete masculinization due to disrupted androgen action.
May 2021 in “Journal of Advances in Internal Medicine” A 13-year-old with 46 XY DSD had ambiguous genitalia due to incomplete masculinization.
May 2021 in “Journal of the Endocrine Society” The 18-year-old girl likely has a condition called müllerian agenesis, which caused her to not have a uterus and experience no menstrual periods.
54 citations
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April 2010 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
5 citations
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February 2003 in “American Journal of Medical Genetics Part A” A chromosomal change may cause ectodermal dysplasia and developmental issues in a child.
July 2023 in “Journal of allergy and clinical Immunology. Global” A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
September 2020 in “Journal of Health, Medicine and Nursing” A 10-year-old boy with abnormal genital development had surgery and tests to find the cause and plan treatment.
4 citations
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August 2021 in “Pediatrics in review” DSDs are birth conditions causing unusual sex development, managed with personalized care and sometimes surgery, but still lack a standard treatment approach.
April 2020 in “Journal of the Endocrine Society” A 14-year-old girl with no menstrual period was diagnosed with Swyer Syndrome and treated for a related cancer risk.
1 citations
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February 2022 in “Online journal of biological sciences” The document does not determine if adults with aphallia are fertile.
2 citations
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January 1998 in “Neurourology and Urodynamics” AMN can cause bladder problems due to nerve damage.
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.
2 citations
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June 2019 in “The Journal of Dermatology” Two cases showed skin abnormalities without bone or neural defects.
5 citations
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January 2012 in “International journal of trichology” A 2-year-old boy had no hair and unusual organ placement, and it's unclear if it's genetic or coincidental.
April 2017 in “Journal of Investigative Dermatology” A boy with Oculodentodigital syndrome had a unique GJA1 gene mutation causing his symptoms.
27 citations
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April 2011 in “Folia Histochemica et Cytobiologica” DHT deficiency can disrupt cell connections in rat testes, possibly affecting fertility.
9 citations
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January 1997 in “Endocrine Journal” Gonadal biopsy is the best method to diagnose gonadal dysgenesis.
17 citations
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January 1998 in “Neurourology and Urodynamics” Adrenomyeloneuropathy (AMN) can cause bladder problems due to nerve damage.
1 citations
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May 2018 in “Clinical chemistry” The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.