research Case of non-Herlitz junctional epidermolysis bullosa withCOL17A1mutation
Genetic testing is crucial for diagnosing and managing non-Herlitz junctional epidermolysis bullosa.
Search
for
Sort by
Research
270-300 / 1000+ results
research Non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency revisited: an update with a special focus on adolescent and adult women
The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
research IS AGE MORE THAN JUST A NUMBER? CHARACTERISTICS OF MEN PRESENTING FOR REPRODUCTIVE UROLOGY FERTILITY EVALUATION IN NORTH AMERICA STRATIFIED BY AGE GROUPS
Older men have different fertility histories and factors affecting fertility, suggesting they may benefit from earlier fertility evaluations.
research Patient Age
I'm sorry, but I can't provide a conclusion without more information from the document.
research 198 Dutasteride for men with androgenic alopecia unresponsive to finasteride
research A study of the Geheimratsacken angle as predictor for early diagnosis of androgenetic alopecia in adolescent population
research Exploiting the Keratin 17 Gene Promoter To Visualize Live Cells in Epithelial Appendages of Mice
A specific gene segment can make mouse skin cells glow, helping study hair growth and gene effects.
research Factors affecting bone maturation in Chinese girls aged 4-8 years with isolated premature thelarche
Higher BMI, IGF-1, and DHEAS levels are linked to advanced bone age in young Chinese girls with early breast development.
research Precocious Puberty
Early sexual development in children, especially girls, can be treated with hormone therapy to improve adult height and requires support for the child and family.
research Prevalence of polycystic ovary syndrome in Thai University adolescents
About 5% of Thai university girls aged 17-19 have polycystic ovary syndrome, with moderate acne being a strong risk factor.
research Serum Interleukin 17 as a Marker for Alopecia Areata Severity: A Case-Control Study
Higher Interleukin 17A levels may indicate more severe alopecia areata.
research Brief Report: Requirement of TACE/ADAM17 for Hair Follicle Bulge Niche Establishment
TACE/ADAM17 is essential for maintaining healthy hair and hair follicle stem cells.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research 0413 IL-17 Inhibitors vs. methotrexate in preventing new-onset psoriatic arthritis in psoriasis patients: a retrospective population-level analysis
IL-17 inhibitors are more effective than methotrexate in preventing psoriatic arthritis in psoriasis patients.
research HIGH DEVELOPMENTAL AGE AND POOR HAIR MULTI-ELEMENT PROFILE IN A 3.75-YEAR-OLD GIRL − DIFFERENTIAL RATES IN SHAPING OF BODY ORGAN GROWTH
A 3.75-year-old girl showed that different body organs can grow at different rates.
research An adolescent girl with coexisting ovarian mature cystic teratoma and HAIR-AN syndrome, an extreme subtype of polycystic ovarian syndrome
A teenage girl had both a rare ovarian tumor and a severe form of polycystic ovarian syndrome.
research KRT16 wt Allele
Mutations in the KRT16 gene can cause skin and nail disorders.
research Serum and hair steroid profiles and their associations with body composition in adolescence.
Androgen levels are more linked to body size in boys than girls.
research Highly efficient nucleophilic addition of alkyl Grignard reagents to 17-ketosteroids in the presence of cerium(III) chloride: Synthesis of 17α-propyl-17β-hydroxy-4-androsten-3-one, an androgen receptor antagonist
Adding cerium(III) chloride to Grignard reagents improves the making of compounds that could treat prostate issues and hair loss.
research Serum Androgens in Normal Prepubertal and Pubertal Children and in Children with Precocious Adrenarche
Androgen levels increase with puberty and are linked to sexual hair development.
research Novel Mutation in the Hemojuvelin Gene (HJV) in a Patient with Juvenile Hemochromatosis Presenting with Insulin-dependent Diabetes Mellitus, Secondary Hypothyroidism and Hypogonadism
A new mutation in the HJV gene was found in a young woman with juvenile hemochromatosis, causing unusual symptoms like secondary hypothyroidism.
research Endocrinology and auxology of sibships with non-classical congenital adrenal hyperplasia.
Siblings with signs of virilization should be tested for non-classical congenital adrenal hyperplasia, which does not affect adult height but may impact fertility and well-being if untreated.
research Banded Scalp Hair with an Unusual Glistening Appearance in a Teenager: A Quiz
A teenager's hair with alternating white and dark bands, known as Pili annulati, is a genetic condition that is usually harmless and often considered attractive.
research 7745 Hirsutism in young girls, Beyond PCOS
Hirsutism in young girls can have causes other than PCOS, so diagnoses should be reassessed if treatments don't work.
research Woolly hair nevus
A 17-year-old developed woolly hair nevus in adolescence, which is unusual, and over time the hair darkened and straightened slightly, but microscopic changes persisted.
research Atypical Juvenile Pityriasis Rubra Pilaris: A Case Report of Early Onset With Late Diagnosis
A rare skin condition in a 17-year-old was diagnosed late, stressing the need for careful evaluation and genetic testing.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research Exposure to non-persistent pesticides and sexual maturation of Spanish adolescent males
Certain pesticides may delay sexual maturity in teenage boys.
research High-risk male teenager with concurrent gonorrhea and syphilis infection: An alarming call
The document concludes that it's concerning when a teenage boy has both gonorrhea and syphilis at the same time.