research Current Evaluation of Amenorrhea
The document concludes that identifying the cause of amenorrhea is crucial for proper treatment.
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30 / 286 results 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 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 A Novel NR5A1 Gene Mutation Causing 46, XY DSD Without Adrenal Insufficiency in an Immigrant Boy from Dominican Republic
A boy with a new NR5A1 gene mutation has a sex development disorder without affecting his adrenal glands.
research Late Diagnosis of Complete Androgen Insensitivity
A 31-year-old woman was diagnosed with Complete Androgen Insensitivity Syndrome much later than usual, leading to a call for earlier detection and treatment guidelines.
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 46,XY Disorders of Sex Development Due to Type 2 5-Alpha Reductase Deficiency in Three Siblings: A Case Report from a Low-Resource Setting
Three siblings with a rare genetic condition had abnormal sexual development and chose different gender identities, needing surgery and therapy.
research A 14-Year-Old Female with Primary Amenorrhea
A 14-year-old girl with no menstrual period was diagnosed with Swyer Syndrome and treated for a related cancer risk.
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 A Teenage Girl with Unexpected Pubertal Changes
The girl's unexpected pubic hair growth led to a diagnosis different from complete androgen insensitivity syndrome.
research Klinefelter Syndrome and Chronic Leg Ulcers
A man with Klinefelter syndrome had a leg ulcer that didn't heal well, even with treatment.
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 An Extraordinary Stroke
Untreated congenital adrenal hyperplasia can lead to complications like stroke and needs glucocorticoid treatment.
research Graham Little-Piccardi-Lassueur Syndrome Associated with Androgen Insensitivity Syndrome (Testicular Feminization)
A woman had both Graham Little-Piccardi-Lassueur syndrome, causing hair loss, and complete androgen insensitivity syndrome, making her genetically male but physically female. This suggests androgens don't affect the hair loss condition.
research Novel Adenosine Triphosphate-Binding Cassette, Subfamily A, Member 12 Mutations Associated with Congenital Ichthyosiform Erythroderma
New ABCA12 gene mutations were linked to a skin condition with scaling and hair loss, and a treatment helped with hair loss in a related case.
research Fetal Alpha 5-Reductase Val89Leu Mutation Is Associated With Late Miscarriage
A certain mutation in the fetal alpha 5-reductase gene is linked to a higher risk of late miscarriage.
research Evidence-Based Medicine in Obstetrics and Gynecology
Accurate diagnosis and timely, tailored treatments improve outcomes in obstetrics and gynecology.
research 5-Alpha-Reductase Type 2 Deficiency: Is There a Genotype-Phenotype Correlation? A Review
No consistent link between genotype and phenotype in 5-α-Reductase type 2 deficiency.
research Sperm Aneuploidy in Infertile Male Patients: A Systematic Review of the Literature
Infertile men are more likely to produce sperm with abnormal chromosome numbers, which can affect pregnancy success and embryo health.
research Treatment-Resistant Schizophrenia and Global Cortical Atrophy in a Patient with Turner Syndrome
A person with Turner Syndrome showed severe schizophrenia that didn't respond to treatment and had brain shrinkage.
research Female Pattern Hair Loss: Beyond an Androgenic Aetiology?
Hair loss in women may have multiple causes, and eyebrow regrowth possible with specific injections.
research Female Pattern Hair Loss in Complete Androgen Insensitivity Syndrome
Hair loss in women may have causes other than hormones.
research Finasteride-Induced Secondary Infertility Associated with Sperm DNA Damage
Finasteride use may cause sperm damage and infertility, stopping it can improve sperm health.
research Straight Hair Associated with Interferon-Alpha Plus Ribavirin in Hepatitis C Infection
ALA-PDT is effective and safe for chronic X-ray dermatitis, providing complete or partial remission.
research Reprogramming of Human Hair Follicle Dermal Papilla Cells into Induced Pluripotent Stem Cells
Human hair follicle cells can be successfully transformed into different types of cells, but not more efficiently than other adult cells.
research The Molecular Basis of Androgen Insensitivity
Mutations in the androgen receptor gene cause Androgen Insensitivity Syndrome, affecting sexual development.
research Secondary Infertility Due to Use of Low-Dose Finasteride
Low-dose finasteride may cause fertility issues, but stopping it can improve sperm quality and lead to pregnancy.
research Testosterone Replacement in 49,XXXXY Syndrome: Andrological, Metabolic, and Neurological Aspects
Testosterone therapy improved physical and social health in a male with 49,XXXXY syndrome.
research Naevus Trichilemmocysticus: The First Pediatric Case of a Newly Delineated Organoid Naevus
The first pediatric case of naevus trichilemmocysticus was documented.
research Mild Cutaneous Manifestation in Two Young Women with Extraordinary Hyperandrogenemia
Two women with very high androgen levels had only slight skin issues, one due to a non-classical adrenal disorder and the other due to an adrenal tumor.