research An Update of Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
Search
for
Sort by
Research
780-810 / 1000+ results 
research Ichthyosis
The document concludes that accurate diagnosis of ichthyosis is crucial for treatment and genetic advice, and ongoing research is needed for better therapies.
research Nutrition and hair
Certain groups may need vitamin supplements to improve hair health and prevent other health problems.
research Nonclassic adrenal hyperplasia
Nonclassic adrenal hyperplasia is a genetic condition that can cause early puberty and fertility problems, treated with specific steroids.
research 17-Hydroxyprogesterone Responses to Gonadotropin-Releasing Hormone Disclose Distinct Phenotypes of Functional Ovarian Hyperandrogenism and Polycystic Ovary Syndrome
The research found that polycystic ovary syndrome (PCOS) has two distinct types, with one having more severe hormone and insulin issues.
research Nutrition and the deleterious side effects of nutritional supplements
Taking too many vitamin and mineral supplements can cause serious health problems.
research Prevalence and Factors Associated with Neonatal Occipital Alopecia: A Retrospective Study
The study concluded that neonatal occipital alopecia is common, not caused by physical friction, and usually resolves on its own without treatment.
research Urticaria Neonatorum: Accumulation of tryptase‐expressing mast cells in the skin lesions of newborns with Erythema Toxicum
Newborns with the common rash Erythema Toxicum have many active mast cells in their skin, but these cells don't produce the LL-37 peptide.
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 Melatonin supplement induced the hair follicle development in offspring rex rabbits
Melatonin given to pregnant rabbits improved their babies' fur quality.
research Effect of melatonin administration to lactating cashmere goats on milk production of dams and on hair follicle development in their offspring
Melatonin increases cashmere quality in goats but reduces their milk production and doesn't affect their offspring's hair growth.
research Virilising ovarian tumour in a woman with an adrenal nodule
A woman with high testosterone and an adrenal nodule had an ovarian tumor causing her symptoms, which improved after the tumor was removed.
research Dupilumab in a 9-week-old with Netherton Syndrome Leads to Deep Symptom Control
Dupilumab effectively controls symptoms in infants with Netherton syndrome.
research Acne in children
Acne in children varies by age and severity, requires a pediatric treatment approach, and may need diagnostic evaluation for underlying conditions.
research The urine as a diagnostic key for a homozygous EGFR mutation
A rare EGFR mutation in newborns leads to severe health issues and early death.
research Diagnosis of childhood and adolescent growth hormone deficiency using transcriptomic data
Childhood growth hormone deficiency can be accurately diagnosed using gene expression data and random forest analysis.
research Myo-inositol in polycystic ovary syndrome: a systematic review and positioning of its use
Myo-inositol improves fertility and metabolic health in PCOS with fewer side effects than metformin.
research The Use of Human Dermal Papillae Conditioned Medium (HDPCM) on Aplasia Cutis Congenita in Lower Extremity due to Intrauterine Varicella Infection
HDPCM treatment healed a baby's congenital skin defect caused by varicella infection.
research A Study on the Pattern of Genetic Inheritance of Polycystic Ovarian Syndrome
PCOS and related metabolic issues often run in families.
research An Atypical Female Case of Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome with Severe Lower Limb Contractures Requiring Orthopedic Surgery
Early diagnosis and multidisciplinary care, including orthopedic surgery, can prevent long-term disability in IFAP syndrome.
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 If Women Just had Their Hormones Back the Way they Were!
Balancing hormones is crucial for women's health and may require hormone therapy.
research Case report: A novel splice-site mutation of MTX2 gene caused mandibuloacral dysplasia progeroid syndrome: the first report from China and literature review
A new MTX2 gene mutation caused a severe genetic disorder in a young Chinese girl.
research Enhancing diagnostic yield of monogenic diabetes through phenotypic and molecular reanalysis of 128 individuals with young onset hyperglycemia: highlighting the significance of accurate case characterization
Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
research Severe Hypernatremia as Presentation of Netherton Syndrome
Netherton syndrome can cause severe dehydration, infections, and growth issues in infants.
research If women just had their hormones back the way they were! (for youthful feeling-balance your hormones!)
Balancing hormones can help women feel youthful and healthy.
research Contaminants of emerging concern in the fetal environment
Fetal environments contain various chemicals that may disrupt hormones.
research Case Report: Disorder of Sex Development 46, XY with Proximal Hypospadias in a 10-Year-Old Twin Boy: Disorder of Sex Development 46, XY with Proximal Hypospadias
A 10-year-old boy with abnormal genital development had surgery and tests to find the cause and plan treatment.
research Distinctive Acne Entities
Acne can appear or persist in adulthood due to hormonal changes, external factors, or substance use, and requires appropriate treatment.
research Genetics and Pathophysiology of Congenital Adrenal Hyperplasia
The document concludes that patient outcomes for Congenital Adrenal Hyperplasia are often not ideal because of poor management and a need for better diagnosis and treatment methods.