February 2026 in “Frontiers in Endocrinology” Testosterone therapy improved symptoms in a woman with congenital adrenal hyperplasia.
June 2025 in “Molecular Genetics & Genomic Medicine” Severe genetic variants in children with a specific adrenal condition match predicted symptoms well, but milder variants do not.
December 2024 in “Journal of Clinical Research in Pediatric Endocrinology” 21-hydroxylase deficiency causes hormone imbalances leading to various symptoms, and diagnosis involves clinical and genetic tests.
August 2023 in “Dermatology Reports” Acne not improved by usual treatments may indicate a genetic disorder.
January 2023 in “Pediatrics International” Non-classical 21-hydroxylase deficiency can be missed in newborn screenings and should be considered in cases of early puberty or virilization.
January 2023 in “Endocrine Journal” Treating classic 21-hydroxylase deficiency requires precise glucocorticoid dosing and attention to individual patient needs, with new treatments showing promise.
46 citations
,
July 1988 in “Journal of The American Academy of Dermatology” Hormone imbalances can cause specific skin changes, which may help in early detection of endocrine disorders.
188 citations
,
January 2022 in “PubMed” Advancements in understanding, diagnosing, and managing congenital adrenal hyperplasia have improved treatment and long-term outcomes.
24 citations
,
March 1996 in “Postgraduate Medical Journal” Most women with hirsutism in the UAE have polycystic ovary syndrome (PCOS).
8 citations
,
April 1991 in “European journal of endocrinology” 3α-AdiolG is a good marker for androgen activity in women with excessive hair growth and decreases with anti-androgen treatment.
1 citations
,
January 2017 in “Tohoku journal of experimental medicine” A woman's mature cystic teratoma caused her virilization by producing testosterone.
January 2017 in “Elsevier eBooks” Congenital Adrenal Hyperplasia is mainly caused by enzyme deficiencies, leading to varying symptoms like hormone imbalances and physical changes.
A 22-year-old woman with a rare genetic condition was successfully treated to develop normal female characteristics and regular menstruation.
April 2020 in “Journal of the Endocrine Society” A patient with untreated congenital adrenal hyperplasia had large benign tumors in her adrenal glands removed, improving her symptoms.
2 citations
,
January 2002 in “Hormone Research in Paediatrics” Molecular diagnostics help identify genetic defects causing endocrine diseases, improving diagnosis and treatment options.
4 citations
,
January 1989 in “Journal of Steroid Biochemistry” Women with hyperandrogenism have higher androgen levels and lower SHBG, which may contribute to conditions like excessive hair growth and early puberty.
October 2020 in “Journal of the American Society of Nephrology” Drospirenone can hide symptoms of certain hormonal disorders, complicating diagnosis.
41 citations
,
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.
August 2025 in “Andrology” Abraham's family infertility may have a genetic explanation.
4 citations
,
January 2010 in “Acta dermato-venereologica” Low androgen levels can still cause female pattern hair loss.
38 citations
,
June 2005 in “Matrix Biology” Minoxidil affects collagen-related genes, potentially helping treat fibrosis.
10 citations
,
August 2022 in “International Journal of Molecular Sciences” Leptin-deficient mice, used as a model for Type 2 Diabetes, have delayed wound healing due to impaired contraction and other dysfunctional cellular responses.
40 citations
,
July 2019 in “Journal of Investigative Dermatology” Lack of a key enzyme causes severe skin issues and death in mice.
June 2024 in “Research Square (Research Square)” Young women in West Bengal, India, with PCOS often have estrogen resistance, leptin receptor issues, folate deficiency, T2DM, and acanthosis, commonly linked to obesity.
151 citations
,
June 2010 in “Endocrinology and metabolism clinics of North America” Two rare genetic diseases cause severe rickets in children due to defects in vitamin D metabolism.
2 citations
,
November 2024 in “Journal of Clinical Medicine” Vitamin D3 deficiency can worsen psoriasis by promoting Candida overgrowth.
1 citations
,
December 2018 in “Indian journal of paediatric dermatology” Kids with alopecia areata had lower vitamin D levels than healthy kids.
142 citations
,
January 2019 in “Frontiers in Neuroendocrinology” Postpartum depression is linked to changes in brain chemicals, inflammation, stress, and certain genes, and can potentially be identified by markers like specific steroids, serotonin levels, and vitamin D levels.
October 2023 in “Scientific Reports” Gene therapy helped rats with a specific type of rickets grow hair without severe inflammation.
PIKFyve is essential for normal platelet function and its deficiency causes organ issues and macrophage infiltration.