research Isochromosome Mosaic Turner Syndrome: A Case Report
A 20-year-old woman with a rare form of Turner syndrome showed improvement with hormonal therapy and needs comprehensive care.
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research Diagnostic Value of Chromosomal Microarray Analysis in Patients With Congenital Anomalies and Dysmorphic Features; Details of Two New Patients With 2q33 Deletions
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
research Treatment Of Alopecia Universalis In A Child With Down Syndrome
Topical treatments helped a child with Down syndrome and severe hair loss regrow most of his hair.
research Challenges in the Diagnosis of Simple-Virilizing Congenital Adrenal Hyperplasia: A Case Report
Diagnosing simple-virilizing congenital adrenal hyperplasia can be difficult and requires thorough testing and expert advice.
research Endocrine Abnormalities in Ring Chromosome 11: A Case Report and Review of the Literature
Ring Chromosome 11 may be linked to conditions like early puberty, excessive hair growth, hair loss, and type 2 diabetes.
research Adult Patients with Aphallia: Were They Fertile?
The document does not determine if adults with aphallia are fertile.
research 46, XY 5-Alpha Reductase Deficiency in a 36-Year-Old Phenotypic Female Patient
A 36-year-old person with a female appearance but male chromosomes was diagnosed with a rare enzyme deficiency affecting sexual development.
research Measuring Steroids in Hair Opens Up Possibilities to Identify Congenital Adrenal Hyperplasia in Developing Countries
Hair steroid measurement is an effective method to diagnose and monitor CAH in developing countries.
research Discordant Phenotype in Monozygotic Twins with Mosaic Trisomy 12p in Lymphocytes
Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
research Unexpected Autocrine Role of Vascular Endothelial Growth Factor in Squamous Cell Carcinoma
VEGF helps squamous cell carcinoma grow in ways beyond just blood vessel formation.
research Coexistence of Psoriasis and Alopecia Areata with Trachyonychia in a Pediatric Patient with Turner Syndrome
A 6-year-old girl with Turner syndrome also had psoriasis, alopecia areata, and trachyonychia.
research Two Parietal Cephaloceles In A Female Neonate
A baby girl had two brain-related growths removed and is developing normally.
research 46, XY Disorder of Sexual Development with Ambiguous Female External Genitalia: A Case Report
A 13-year-old with 46 XY DSD had ambiguous genitalia due to incomplete masculinization.
research Generation of iPS Cells from Human Hair Follicle Dermal Papilla Cells
Researchers made stem cells from human hair follicle cells with better efficiency than from skin cells.
research Hirsutism in Adolescent Females
The conclusion is that young women with excessive hair growth should be quickly tested for hormonal issues and treated to improve their social well-being.
research Generating Induced Pluripotent Stem Cells with a High-Efficiency, Non-Invasive Method: An Improved Way to Cultivate Keratinocytes from Plucked Hair for Reprogramming
The conclusion is that the new method makes collecting cells from plucked hair to create stem cells more efficient and less invasive.
research First Symposium on Natural Gene Therapy of the Skin
Natural gene therapy shows promise for treating skin disorders like epidermolysis bullosa.
research Rhombencephalosynapsis Presenting Antenatally with Ventriculomegaly/Hydrocephalus in a Likely Case of Gomez–López-Hernández Syndrome
A 2-year-old boy with a rare brain malformation may have Gomez–López-Hernández syndrome.
research PBX Homeobox 1 Enhances Hair Follicle Mesenchymal Stem Cell Proliferation and Reprogramming Through Activation of the AKT/Glycogen Synthase Kinase Signaling Pathway and Suppression of Apoptosis
PBX1 helps hair stem cells grow and change by turning on certain cell signals and preventing cell death, which may be useful for hair regrowth treatments.
research Human Wharton’s Jelly Mesenchymal Stem Cells Plasticity Augments Scar-Free Skin Wound Healing with Hair Growth
Wharton’s Jelly stem cells from the umbilical cord improve skin healing and hair growth without scarring.
research Dihydrotestosterone Induces Arterial Stiffening in Female Mice
Dihydrotestosterone makes arteries stiffer in female mice by reducing estrogen receptor expression.
research Regenerative Hair Transplantation with Autologous Mesenchymal Cells from the Scalp
Using scalp stem cells can improve hair transplants.
research Human-Derived Immortalized Dermal Papilla Cells With Constant Expression of Androgen Receptor
Researchers created immortal human skin cells with constant testosterone receptor activity to study hair loss and test treatments.
research Abstracts From The 55th European Society Of Human Genetics Conference: E-Posters
Rare ULBP3 gene changes may raise the risk of Alopecia areata, a certain FAS gene deletion could cause a dysfunctional protein in an immune disorder, and having one copy of a specific genetic deletion is okay, but two copies cause sickle cell disease.
research Induced Pluripotent Stem Cell Line MUSIi006-A Derived from Hair Follicle Keratinocytes as a Non-Invasive Somatic Cell Source
Hair samples can be used to create stem cells easily and non-invasively.
research Cross-Sex Hormone Therapy for Gender Dysphoria
Cross-sex hormone therapy is important for managing gender dysphoria and requires careful monitoring and healthcare provider education.
research Microenvironmental Reprogramming of Thymic Epithelial Cells to Skin Multipotent Stem Cells
Scientists turned rat thymus cells into stem cells that can help repair skin and hair.
research Overexpression of Nanog in Amniotic Fluid-Derived Mesenchymal Stem Cells Accelerates Dermal Papilla Cell Activity and Promotes Hair Follicle Regeneration
Nanog gene boosts stem cells, helps hair growth, and may treat hair loss.
research An Adolescent Girl Presenting With Primary Amenorrhea: A Case Report of Complete Androgen Insensitivity Syndrome
A 15-year-old girl with no menstrual period was diagnosed with a genetic condition that makes her body unable to respond to male hormones, leading to female characteristics despite having male genetic makeup.
research Androgen Receptor CAG Repeat Length Is Associated With Ovarian Reserve But Not With Ovarian Response
The length of CAG repeats in the androgen receptor gene is linked to ovarian reserve but does not affect how the ovaries respond to stimulation.