research Management of pregnancy in a carrier of the Donohue mutation
Pregnancies in a woman with the Donohue mutation were managed with genetic testing, resulting in three healthy infants.
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research Clinical and Demographic Characteristics of Patients Diagnosed with Polycystic Ovary Syndrome: A Cross-Sectional Observational Study
PCOS is common in women, often treated with lifestyle changes and oral contraceptives.
research Congenital Adrenal Hyperplasia
The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
research EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency
The guidelines ensure accurate genetic testing and reporting for 21-hydroxylase deficiency.
research Phenotypic profiling of parents with cryptic nonclassic congenital adrenal hyperplasia: findings in 145 unrelated families
Some parents have a mild form of congenital adrenal hyperplasia without symptoms, and they usually don't need treatment.
research Nonclassic adrenal hyperplasia
Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.
research Two Hypomorphic Alleles of Mouse Ass1 as a New Animal Model of Citrullinemia Type I and Other Hyperammonemic Syndromes
Researchers created a new mouse model for studying Citrullinemia Type I and similar conditions, showing symptoms and treatment responses like those in humans.
research A Rare Presentation of Biotinidase Deficiency Mimicking Acrodermatitis Enteropathica in a Toddler
Biotinidase deficiency can mimic other conditions, making early diagnosis and treatment crucial to prevent lasting issues.
research Study on Changes of 19 Steroids in Plasma From 9 Diagnosed Patients With P450 Oxidoreductase Deficiency
Certain hormone levels can help diagnose P450 oxidoreductase deficiency.
research Polycystic ovary syndrome: a complex condition with psychological, reproductive and metabolic manifestations that impacts on health across the lifespan
Polycystic ovary syndrome is a complex condition that affects women's mental, reproductive, and metabolic health throughout their lives.
research Phenotypic variation in biotinidase deficiency
Biotinidase deficiency has various symptoms and can be treated with biotin supplements.
research Shh maintains dermal papilla identity and hair morphogenesis via a Noggin–Shh regulatory loop
Sonic hedgehog signaling is crucial for hair growth and maintaining hair follicle identity.
research Strategies to enhance epithelial–mesenchymal interactions for human hair follicle bioengineering
Improving the environment and cell interactions is key for creating human hair in the lab.
research Clinical management of patients withASXL1mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance
Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
research Health-related quality of life and psychological distress in polycystic ovary syndrome: a hidden facet in South Asian women
South Asian women with PCOS experience more psychological distress and have a poorer quality of life, especially in social relationships, with hirsutism affecting them more than obesity.
research Curtailing PCOS
Lifestyle changes are the main treatment for PCOS, which is a complex condition requiring early management to reduce its health impacts.
research TGF‐β2 is specifically expressed in human dermal papilla cells and modulates hair folliculogenesis
TGF-β2 plays a key role in human hair growth and development.
research Hypertension and Reproduction
Reproductive factors can increase hypertension risk and affect cardiovascular health.
research Increased Vibrissa Growth in Transgenic Mice Expressing Insulin-like Growth Factor 1
IGF-1 increases whisker growth in transgenic mice.
research Comparing the risk of adverse pregnancy outcomes of Chinese patients with polycystic ovary syndrome with and without antiandrogenic pretreatment
Women with PCOS who had antiandrogenic treatment before pregnancy had fewer complications than those without treatment.
research CCN2 modulates hair follicle cycling in mice
The protein CCN2 controls hair growth by affecting hair follicle formation and stem cell activity in mice.
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 A Critical Review on Obstetric Follow-up of Women Affected by Systemic Lupus Erythematosus
Women with Systemic Lupus Erythematosus should have closely monitored pregnancies and avoid certain medications to improve their pregnancy outcomes.
research Enrichment and Characterization of Human Dermal Stem/Progenitor Cells by Intracellular Granularity
Scientists identified a unique type of human skin stem cell that could help with tissue repair.
research Prevalence of polycystic ovary syndrome among fertile and infertile women in Minia Governorate, Egypt
Polycystic ovary syndrome (PCOS) is a major health issue for women in Egypt, affecting 14% of fertile women and 37.5% of infertile women.
research Hair and nail disorders of childhood
The document concludes that various childhood hair and nail disorders exist, some may improve on their own, and advances in genetics and immunology could enhance treatment and counseling.
research Alopecia in children
Most hair loss in children is caused by a few common conditions and is easy to diagnose, but rare types require careful evaluation.
research Association of Polycystic Ovarian Syndrome (PCOS) With Vaginal Microbiome Dysbiosis: A Scoping Review
PCOS is linked to changes in vaginal bacteria, with fewer good bacteria and more harmful ones.
research Emerging Topics in Cardiometabolic and Psychologic Sequelae, Pathogenesis, and Treatment of Polycystic Ovarian Syndrome: A Review
The review concludes that more research is needed to better improve the health outcomes for people with Polycystic Ovarian Syndrome.
research Atrichia with papular lesions in a Taiwanese patient without hairless (HR) gene mutation
A Taiwanese patient had hair loss and skin bumps without the usual gene mutation, suggesting other genetic factors might be involved.