research Arginosuccinicaciduria
The girl had a rare disorder causing mental and physical symptoms, with weak hair and unclear neurological issues.
Search
for
Sort by
Research
810-840 / 1000+ results
research An Unusual Cause of Primary Amenorrhea
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.
research A 9-month-old infant with severe scalp dermatosis
The infant likely has Hay-Wells syndrome and needs genetic testing and heart screening.
research Autosomal recessive hypotrichosis simplex with woolly hair: a report of a new family
Two siblings were found to have a genetic condition causing progressive hair loss and woolly hair, which may often be misdiagnosed.
research Mutational spectrum associated with oculocutaneous albinism and Hermansky-Pudlak syndrome in nine Pakistani families
New genetic variants linked to albinism were found in Pakistani families.
research A Novel Androgen Receptor Gene Mutation in a 46,XY Patient: Complete Androgen Insensitivity Syndrome
A new gene mutation causes complete androgen insensitivity in a 16-year-old with a female appearance.
research Response to Letter: “Characteristics of Men Who Report Persistent Sexual Symptoms After Finasteride Use for Hair Loss”
Finasteride's sexual side effects not caused by androgen deficiency or SRD5A inhibition.
research Anhidrotic Ectodermal Dysplasia: Predisposition to Bronchial Disease
People with anhidrotic ectodermal dysplasia may get severe bronchitis if exposed to dust.
research The urine as a diagnostic key for a homozygous EGFR mutation
A rare EGFR mutation in newborns leads to severe health issues and early death.
research Homozygous Deletion in CDH3 and Hypotrichosis With Juvenile Macular Dystrophy
A deletion in the CDH3 gene causes a rare disorder with short hair and vision loss.
research Novel missense mutation in the EDA gene in a family affected by oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
research New CDH3 mutation in the first Spanish case of hypotrichosis with juvenile macular dystrophy, a case report
A new CDH3 gene mutation was found in a Spanish patient with sparse hair and eye issues.
research A General Paediatric Approach to Ankyloblepharon–Ectodermal Dysplasia–Cleft Lip/Palate Syndrome in Infancy: A Case Report
Genetic analysis is crucial for diagnosing ectodermal dysplasia syndromes, and new therapies may help improve skin issues.
research Atrichia with papular lesions in Syrian siblings exposing global diagnostic challenges in genetic alopecia: A rare case report
Atrichia with papular lesions causes irreversible hair loss from infancy and is often misdiagnosed.
research Optic Nerve Atrophy and Hair Loss in a Young Man
A young man had vision loss, hair loss, and other symptoms, but tests showed mostly normal results except for slightly high protein in spinal fluid.
research Ankyloblepharon-ectodermal dysplasia-clefting syndrome: Surgical and medical management in an infant with bilateral corneal perforations
Early and aggressive treatment is crucial for preserving vision in infants with AEC syndrome.
research Unilateral heterochromia of scalp hair with adjacent hypomelanotic skin lesions
The boy's hair and skin color differences are due to a pigmentation disorder.
research The diagnosis of polycystic ovary syndrome in adolescents
Diagnosing PCOS in teenagers is challenging and should use strict criteria to avoid misdiagnosis and unnecessary worry.
research Fetal Alcohol Syndrome: Current Status of Pathogenesis
The document concludes that the exact way alcohol causes harm to fetal development is unknown, but it significantly affects nutrient transport to the fetus and a safe level of alcohol during pregnancy is not determined.
research Ichthyosis
The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
research Molecular epidemiology of hypospadias: Review of genetic and environmental risk factors
Both genes and environmental factors like chemicals may contribute to the increase in hypospadias, but the exact causes are still unclear.
research Oral spironolactone therapy for female patients with acne, hirsutism or androgenic alopecia
Spironolactone is effective for treating acne, hirsutism, and androgenic alopecia in women with few side effects.
research EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
research Inherited ichthyoses/generalized Mendelian disorders of cornification
Inherited ichthyoses cause widespread skin scaling and thickening due to gene mutations.
research Emerging medication for the treatment of male hypogonadism
New treatments for male hypogonadism are effective and should be personalized.
research MENSTRUAL DISORDERS IN ADOLESCENTS
The document concludes that early recognition and treatment of PCOS in adolescents is crucial for managing symptoms and long-term health risks.
research Androgenetic alopecia in children: report of 20 cases
AGA can occur in children with family history; early diagnosis and treatment important.
research Nutrition and hair
Certain groups may need vitamin supplements to improve hair health and prevent other health problems.
research Animal models for the study of fetal tissue repair
Understanding how fetal wounds heal could help improve healing in adults.
research Nonclassic adrenal hyperplasia
Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.