research Congenital adrenal hyperplasia
CAH is a genetic disorder affecting cortisol production and causing hormonal imbalances, with treatment and diagnosis varying by form and symptoms.
Search
for
Sort by
Research
690-720 / 1000+ results 
research Congenital triangular alopecia: Is it always confined to fronto-temporal region?
Congenital triangular alopecia can occur outside the typical fronto-temporal region.
research Relative Prevalence of Different Androgen Excess Disorders in 950 Women Referred because of Clinical Hyperandrogenism
Most women referred for excess male hormone symptoms had polycystic ovary syndrome (PCOS), with other conditions being less common.
research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research Acquired non-scarring vertex alopecia in three women revealing trichotillomania: Diagnostic accuracy of trichoscopy
Trichoscopy is effective in diagnosing trichotillomania by showing specific hair patterns.
research As manifestações dermatológicas da síndrome do ovário policístico: Uma revisão bibliográfica
PCOS causes skin issues like excess hair, acne, and hair loss, needing a team approach for treatment.
research Alopecia universalis and Kallman’s Syndrome
A woman with Kallman's syndrome also developed alopecia universalis, a condition not previously linked to Kallman's.
research P142 – 3046: Encephalocraniocutaneous lipomatosis, a rare neurocutaneous disorder: Report of additional three cases
ECCL should be considered in patients with specific skin and eye lesions.
research SAT-224 Polycystic Ovary Syndrome with Adrenal Hyperandrogenemia and Refractory Hirsutism
Glucocorticoid treatment lowered androgen levels but didn't improve hirsutism or ovulation and caused weight gain.
research A prospective descriptive study of 100 patients with facial trichostasis spinulosa
Facial trichostasis spinulosa is a chronic condition with significant cosmetic impact, especially in young women.
research Acquired progressive kinking of the hair in a Korean female adolescent
A Korean girl developed kinky hair without known cause or effective treatment.
research High-throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort
Some women with PCOS have rare genetic variants linked to the condition.
research Vitamin D Dependent Rickets Type II with Alopecia
A 2-year-old girl with a rare vitamin D disorder had rickets and hair loss, but treatment was ineffective due to poor compliance.
research Keratosis follicularis spinulosa decalvans in a female
A rare genetic skin condition usually affecting males was found in a 9-year-old girl.
research Unveiling the Potential of Dermoscopy in Diagnosing Netherton Syndrome
Trichoscopy is a helpful tool for diagnosing Netherton syndrome.
research Hyperandrogenism insulin resistance-acanthosis nigricans syndrome in a female adolescent with migraine: A case report
Early diagnosis and treatment of endocrine disorders like HAIR-AN syndrome can improve outcomes in adolescents.
research Vitiligo: A comprehensive overview
Vitiligo is a skin condition causing white spots, more common in women, often starts before age 20, and can affect mental health.
research Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
A mutation in the KRT86 gene causes hair fragility in a Turkish family.
research Polycystic ovary syndrome in North America
PCOS is a common and costly condition in North American women, causing various health issues like obesity, diabetes, and fertility problems.
research Crystalline Cataract and Uncombable Hair
The study found no common cause for a girl's crystalline cataract and uncombable hair, suggesting their co-occurrence might be coincidental.
research Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets
Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.
research Clinical characteristics of polycystic ovary syndrome: investigating differences in White and South Asian women
South Asian women with PCOS present with different symptoms compared to White women, influenced by ethnicity, obesity, and age.
research Polycystic Ovary Syndrome
PCOS is a genetic disorder affecting women's reproductive health, with treatments focused on symptoms like insulin resistance and fertility.
research Lanceolate hair-J (lahJ): a mouse model for human hair disorders [In Process Citation]
The lanceolate hair-J mutation in mice helps understand human hair disorders like Netherton's syndrome.
research Generalized Congenital Hypotrichosis in a Female Rottweiler
A female Rottweiler had a rare genetic condition causing mostly hairless skin.
research Hair Follicle Miniaturization in a Woolly Hair Nevus
The boy with woolly hair nevus had thinner hair and abnormal hair follicles, which improved with treatment but worsened when treatment stopped.
research Keratosis follicularis spinulosa decalvans: a family study of seven male cases and six female carriers.
The study found that males with KFSD had severe skin and eye symptoms, while female carriers had milder symptoms.
research Clinicopathologic and trichoscopic features of keratosis follicularis spinulosa decalvans: A case series study
The study concluded that key signs of Keratosis follicularis spinulosa decalvans are changes in terminal hair and vellus hair follicles, which likely start the inflammation and damage to hair follicles.
research Comedonal and Cystic Fibrofolliculomas in Birt-Hogg-Dube Syndrome
Early detection of specific skin lesions can help identify Birt-Hogg-Dube syndrome and prevent serious complications.
research Monilethrix
A 12-year-old girl was diagnosed with monilethrix, a genetic condition causing fragile, beaded hair that breaks easily, with no effective treatment available.