research Spontaneous hair hyperpigmentation in response to vitamin intake in pregnancy—A clue for homocystinuria
Taking vitamin B6 corrected a pregnant woman's metabolic disorder, which changed her hair color.
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research Molecular Genetic and Endocrine Mechanisms of Hair Growth
Hormones and their receptors, especially androgens, play a key role in hair growth and disorders like baldness.
research Riboflavin-responsive glutaryl CoA dehydrogenase deficiency
Taking riboflavin and eating less lysine can help some people with a specific genetic disorder avoid brain damage.
research The mineralocorticoid receptor as a novel player in skin biology: beyond the renal horizon?
The mineralocorticoid receptor may play a role in skin and hair health and could be a new target for treating related disorders.
research A missing piece: the spiny mouse and the puzzle of menstruating species
The spiny mouse is a unique menstruating rodent that can help us understand menstruation and reproductive disorders.
research Abstracts
Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
research SUMMARIES OF PAPERS
Herpes gestationis is linked to certain antigens, atopic eczema affects T cell populations and may be eased by breastfeeding, higher doses of anti-androgen treatment can improve androgenic alopecia, topical minoxidil increases hair thickness, long-term methotrexate therapy can cause liver fibrosis in psoriasis patients, and Lichen Sclerosus et Atrophicus patients aren't at higher risk for autoimmune disorders.
research Reporting on Adverse Clinical Events
The FDA warned about safety issues with remdesivir and tofacitinib, finasteride is linked to suicidality, potent topical corticosteroids increase osteoporosis risk, henna can cause hemolysis in G6PD deficiency, chemotherapeutic agents can cause adverse reactions, drug interactions are common in cancer patients, ketamine can reduce at-risk drinking, high dose of anticholinergics increases dementia risk in Parkinson's patients, and prenatal exposure to second-generation antipsychotics increases pregnancy complications.
research Síndrome de ovario poliquístico
PCOS is a common disorder in women causing hormonal imbalance and fertility issues, often managed with lifestyle changes and medication.
research 46,XY DSD due to impaired androgen production
Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
research The Search for the Causes of Common Hyperandrogenism, 1965 to Circa 2015
Significant progress was made in understanding androgen excess disorders, but much is still unknown.
research Ichthyosis and Trichothiodystrophy: the Tay and PIBI(D)S Syndromes
Tay syndrome is a unique genetic disorder causing skin, hair, and developmental issues.
research Myotonic Dystrophy—A Progeroid Disease?
Myotonic dystrophy may be classified as a segmental progeroid disorder.
research The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End ofKRT10
Ichthyosis with confetti is a genetic skin disorder with consistent ectodermal malformations and various KRT10 gene mutations.
research Review of the Latest Methods of Epidermolysis Bullosa and Other Chronic Wounds Treatment Including BIOOPA Dressing
New treatments for epidermolysis bullosa show promise in improving patients' lives, but a cure is still not available.
research Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis
New genetic mutations linked to rare skin disorders were found in three newborns.
research Ectodysplasin A (EDA) Signaling: From Skin Appendage to Multiple Diseases
EDA signaling is linked to skin disorders, various cancers, and liver disease.
research A Comprehensive Review of Management of Patients with Infertility having Polycystic Ovarian Syndrome
PCOS-related infertility is managed with lifestyle changes and medications.
research A brief report on PCOS: and its inducing model
PCOS causes hormonal imbalance, leading to symptoms like irregular periods and infertility.
research Myotonic dystrophy type 1
There is no cure for myotonic dystrophy type 1, so treatment focuses on managing symptoms and complications.
research Polycystic Ovarian Syndrome in Female players
PCOS is common, affects fertility, and needs early diagnosis and lifestyle changes for management.
research GAPO syndrome – Report of a rare case and review
GAPO syndrome causes growth issues, hair loss, missing teeth, and vision problems.
research Polycystic ovary syndrome: An update on diagnosis and management
PCOS diagnosis and management have improved with new guidelines for personalized care.
research Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
research X-linked Recessive Ectodysplasin A Mutations Induced Hypohidrotic Ectodermal Dysplasia and Severe Atopic Dermatitis Successfully Treated with Dupilumab
Dupilumab effectively treats severe skin issues in a rare genetic disorder.
research The pathophysiology of polycystic ovary syndrome
Insulin resistance is a key factor in polycystic ovary syndrome, but genetics may also contribute.
research Congenital Adrenal Hyperplasia—Current Insights in Pathophysiology, Diagnostics, and Management
Early diagnosis and individualized treatment improve outcomes for Congenital Adrenal Hyperplasia.
research Animal Models and the Developmental Origins of Polycystic Ovary Syndrome: Increasing Evidence for the Role of Androgens in Programming Reproductive and Metabolic Dysfunction
High levels of androgens during early development may cause PCOS-like symptoms.
research Management of CAH during pregnancy
With careful management, people with congenital adrenal hyperplasia can have successful pregnancies and become parents.
research Abstracts from the 55th European Society of Human Genetics (ESHG) 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.