A new mutation in the CYP11B1 gene was found in a woman with mild hyperandrogenemia, a rare cause of non-classic congenital adrenal hyperplasia.
44 citations
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August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.
January 2017 in “Springer eBooks” Understanding genes and hormones is crucial for managing male puberty and sex development disorders.
1 citations
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April 2016 in “Journal of Investigative Dermatology” Patients with Focal Dermal Hypoplasia often experience skin, nail, hair, and bone issues, and may benefit from calcium and vitamin D supplements.
7 citations
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August 2008 in “Immunogenetics” A gene mutation in mice causes increased mast cells and disorganized hair follicles in their skin.
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.
11 citations
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August 2019 in “The Journal of Sexual Medicine” Women with nonclassic congenital adrenal hyperplasia experience more sexual dysfunction and distress.
27 citations
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May 2019 in “Jo'jig gonghag gwa jaesaeng uihag/Tissue engineering and regenerative medicine” The best method for urethral reconstruction is using hypoxia-preconditioned stem cells with autologous cells on a vascularized synthetic scaffold.
5 citations
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January 2024 in “Reproductive Medicine and Biology” Androgen and Wnt signals are crucial for developing and functioning male genitalia and erectile tissues.
5 citations
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October 2021 in “American Journal of Medical Genetics Part A” A new genetic variant causes BRESHECK syndrome by disrupting cell growth and stress response.
2 citations
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September 2024 in “Asian Journal of Andrology” New SRD5A2 variants may disrupt protein function, aiding diagnosis and treatment of related disorders.
2 citations
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July 2021 in “Journal of Dermatology and Dermatologic Surgery” Exposure to the hair loss drug finasteride during pregnancy can cause genital anomalies in male babies, but not in female babies. It's best to avoid this drug in women who could potentially become pregnant.
1 citations
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April 2022 in “AACE clinical case reports” A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
1 citations
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September 2019 in “Steroids” Two new mutations in the AR gene linked to severe androgen insensitivity were found.
94 citations
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April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” A new gene mutation causes female pseudohermaphroditism due to glucocorticoid resistance.
4 citations
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March 2021 in “Journal of Histotechnology” Hidradenitis suppurativa lesions have less collagen and elastin but more new blood vessels.
2 citations
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August 2014 in “Archivos argentinos de pediatría” A 6-year-old girl with Turner syndrome also had psoriasis, alopecia areata, and trachyonychia.
6 citations
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June 2014 in “PubMed” Combining TUSV with finasteride effectively treats recurrent hemospermia.
5 citations
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October 2015 in “The American journal of pathology” Mice with a mutated Dsg3 gene showed severe symptoms but not the typical blistering of pemphigus vulgaris.
23 citations
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December 2008 in “Pediatric neurology” The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.
3 citations
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April 2021 in “Journal of Clinical Medicine” Further research is needed to understand lymph node involvement in axillary hidradenitis suppurativa.
50 citations
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January 1941 in “Annals of Internal Medicine” Idiopathic hypoparathyroidism is rare and can be managed with dihydrotachysterol.
3 citations
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April 2013 in “The Journal of Urology” December 2013 in “The Journal of Urology” August 2013 in “The Journal of Urology” 
1 citations
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March 2019 in “KnE life sciences” HDPCM treatment healed a baby's congenital skin defect caused by varicella infection.
13 citations
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June 2006 in “Fertility and Sterility” Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.
10 citations
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January 1925 in “Archives of Dermatology” Trichostasis spinulosa is a rare skin condition with hair-filled plugs in hair follicles.
11 citations
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February 2011 in “The Journal of Dermatology” Mutations in the hairless gene cause a rare form of permanent hair loss.
June 2026 in “Quality in Sport” Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a complex autosomal recessive disorder affecting adrenal steroidogenesis, leading to cortisol and aldosterone deficiency and excess adrenal androgens. This systematic review highlights the disorder's broad clinical spectrum, necessitating a multidisciplinary approach for diagnosis and treatment. Universal newborn screening using 17OHP measurement has reduced mortality from adrenal crises, especially in boys. Current treatments with hydrocortisone and fludrocortisone are effective but imperfect, as they do not mimic the natural circadian rhythm of cortisol and carry long-term risks. Future therapeutic options, such as CRF receptor antagonists, ACTH secretion inhibitors, and gene therapy, are promising but not yet standard practice.