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.
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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 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 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 5-Alpha-Reductase Deficiency in a Saudi Girl
A Saudi individual initially identified as a girl had a genetic disorder affecting gender development.
research A Rare Case of Isolated Pulmonary Involvement in Lymphoid Variant Hypereosinophilic Syndrome
A man with a rare lung-focused form of hypereosinophilic syndrome improved with steroid treatment.
research Androgenetic Alopecia in a Patient with Klinefelter Syndrome: Case Report and Literature Review
Finasteride may effectively treat hair loss in Klinefelter Syndrome patients.
research Generation of an Integration-Free Human Induced Pluripotent Stem Cell Line MUSIi010-A from Occipital Scalp Fibroblasts of a Male Patient with Androgenetic Alopecia
Scientists created MUSIi010-A, a stem cell line from a balding man's scalp, to study hair loss and develop potential treatments.
research The Metabolism of Testosterone by Dermal Papilla Cells Cultured from Scalp Follicles of Men with Androgenetic Alopecia
Testosterone metabolism in balding scalp cells may not be the main cause of hair loss.
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 Current Evaluation of Amenorrhea
Amenorrhea is relatively rare and initial testing should check FSH, TSH, and prolactin levels.
research Novel TMEM173 Mutation and the Role of Disease-Modifying Alleles
A new mutation in the STING protein causes a range of symptoms and its severity may be affected by other genetic variations; treatment with a specific inhibitor showed improvement in one patient.
research Current Evaluation of Amenorrhea
Amenorrhea is when a woman doesn't have periods, with primary amenorrhea starting by age 15 or within five years of breast development, and secondary amenorrhea when periods stop for three months. It affects 3-4% of women not pregnant, breastfeeding, or in menopause, mainly due to polycystic ovary syndrome, hypothalamic amenorrhea, hyperprolactinemia, and ovarian failure.
research Skin Manifestations Among GATA2-Deficient Patients
Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.
research Current Evaluation of Amenorrhea
Amenorrhea, or the absence of periods, should be evaluated by age 15 or within five years of early breast development, and is most commonly caused by conditions like polycystic ovary syndrome and hypothalamic amenorrhea.
research Establishment of Keratinocyte Cell Lines from Human Hair Follicles
Scientists created keratinocyte cell lines from human hair that can differentiate similarly to normal skin cells, offering a new way to study skin biology and diseases.
research Female Pattern Hair Loss: Beyond an Androgenic Aetiology?
Estrogen and prolactin may play bigger roles in female hair loss than previously thought.
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
research A 10 Mb Duplication in Chromosome Band 5q31.3–5q33.1 Associated with Late-Onset Lipodystrophy, Ichthyosis, Epilepsy, and Glomerulonephritis
A genetic duplication on chromosome 5 was linked to a woman's unique combination of medical conditions.
research Overlap Between Ulerythema Ophryogenes and Keratosis Follicularis Spinulosa Decalvans: A Case Report
A 19-year-old male had two rare skin conditions causing scarring and permanent hair loss.
research Finasteride Use in the Male Infertility Population: Effects on Semen and Hormonal Parameters
Finasteride may improve sperm count in subfertile men with low sperm count.
research Polycystic Ovary Syndrome (PCOS) Presenting with Delayed Menarche and Clitoromegaly
PCOS can cause unusual symptoms like late puberty and enlarged clitoris, making diagnosis difficult.
research Can Extra-Adrenal Cortisol Secretion Occur in an Adrenalectomized Patient?
A patient produced cortisol after adrenalectomy, possibly due to residual tissue or other body parts making steroids.
research Tuberous Sclerosis: Clinical Findings in 57 Patients
Most patients with Tuberous sclerosis had neurological or skin issues, and over half had psychiatric problems.
research Numerous Faces of Yellow Dots: Dermatoscopic Features in Various Types of Effluvium
Yellow dots look different in various hair loss conditions and can help diagnose them.
research Dominant Dystrophic Epidermolysis Bullosa: Seven Familial Cases
The document concludes that detailed clinical descriptions of seven family cases help understand dominant dystrophic epidermolysis bullosa's symptoms and inheritance.
research An Interesting Case of Hepatic Adrenocortical Carcinoma
A woman had a rare liver tumor causing male-like physical changes, highlighting the need for thorough checks when such symptoms appear.
research Identification of Two Additional Novel Mutations in the AR Gene Associated with Severe Forms of Androgen Insensitivity Syndrome
Two new mutations in the AR gene linked to severe androgen insensitivity were found.
research Gomez–Lopez-Hernandez Syndrome: Two New Cases and Review of the Literature
The document adds two cases of Gomez-Lopez-Hernandez syndrome and suggests including trigeminal anesthesia and scalp alopecia as key diagnostic criteria.