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.
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research Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research Prevalence of Iatrogenic Vitamin D Toxicity Among the Saudi Population of Vitamin D Users Due to Overcorrection
Many people in Saudi Arabia use vitamin D supplements, but few experience toxicity, showing the need for professional guidance when taking these supplements.
research Autosomal recessive hereditary hypotrichosis simplex: A case report
A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
research The Association of Gene Expression and Single Nucleotide Polymorphism (rs 6152 SNP) in Androgen Receptor Gene with Recurrent Spontaneous Abortion (RSA) in Iraqi Women
The androgen receptor gene doesn't affect women with recurrent spontaneous abortions, but having a mutant genotype might protect against it.
research Type A insulin resistance syndrome due to a novel heterozygous c.3486_3503del (p. Arg1163_Ala1168del) INSR gene mutation in an adolescent girl and her mother
A new gene mutation causes insulin resistance in a girl and her mother.
research Investigate the role of Zinc and Ferritin in Iraqi patients with alopecia areata
Low levels of zinc and ferritin may worsen alopecia areata.
research Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations
The research found that Atypical Progeroid Syndrome has unique symptoms and is not caused by the buildup of a certain mutant protein.
research CLINICAL OBSERVATION: HYPONATREMIA ASSOCIATED WITH DIURETIC USE AND URINARY RETENTION IN AN OLDER MAN
Older adults using diuretics should manage water intake carefully to avoid low sodium levels.
research SRD5A2 and emerging therapies in androgen-driven disorders
research 9243 Postmenopausal Hyperandrogenism due to Rare Ovarian Tumor
Bilateral salpingo-oophorectomy resolved hyperandrogenism in a postmenopausal woman with rare ovarian tumors.
research Die pathogenetische Bedeutung der 5α-Reduktase-Isoenzyme für die androgenetische Alopezie
Type 2 5α-reductase plays a key role in hair loss.
research Acrodermatitis enteropathica in the pediatric population: a literature review of real-world studies
Zinc effectively treats most children with acrodermatitis enteropathica, but underlying metabolic issues may require additional management.
research COLLAB: A Global Survey of Clinical and Laboratory Assessment in Alopecia Areata by Hair Specialists
Hair specialists vary in testing for alopecia areata, highlighting the need for standard guidelines.
research Clinical characterization of men with long QT syndrome and torsades de pointes associated with hypogonadism: A review and pharmacovigilance study
Low testosterone in men is a risk factor for a specific heart rhythm issue, and testosterone treatment may help prevent it.
research Low-sulfur hair syndrome associated with UVB photosensitivity and testicular failure
Low-sulfur hair syndrome can cause UVB sensitivity and testicular failure.
research MON-369 Treatment of Nonclassic 11-Hydroxylase Deficiency with "Hair, Skin, and Nails," an Over-the-Counter, Insulin Sensitizing Vitamin/Mineral Supplement
An over-the-counter vitamin/mineral supplement improved hair loss and blood sugar control in a woman with non-classic 11-hydroxylase deficiency.
research Table 2_Clinical features and genetic analysis of acrodermatitis enteropathica in an ethnic minority infant from Western China: a case report and literature review.xlsx
Early genetic testing and zinc therapy are crucial for managing acrodermatitis enteropathica in infants.
research Alert to US physicians: DHEA, widely used as an OTC androgen supplement, may exacerbate COVID-19
The over-the-counter supplement DHEA could make COVID-19 worse, especially in diabetics and people with G6PD deficiency.
research Hair Mineral Analysis in Children with Atopic Dermatitis
Mineral levels in hair don't significantly affect the severity of atopic dermatitis in children.
research Effect of 3-Beta Hydroxysteroid Dehydrogenase on Serum Testosterone Level in Obese Women With Polycystic Ovary Syndrome
3βHSD2 is not useful for diagnosing PCOS.
research 5α‐Reductase Isozymes and Androgen Actions in the Prostate
5α‐reductase isozymes are crucial for prostate development and health, and targeting them can help prevent and treat prostate issues.
research Novel Systematics of Nomenclature and Classification of Female Functional Androgenization (Including Polycystic Ovary Syndrome and Non-Classic Congenital Adrenal Hyperplasia)
A new system helps better diagnose and treat female androgenization conditions like PCOS.
research Differential Diagnosis of Hyperandrogenism in Women with Polycystic Ovary Syndrome
The conclusion is that accurately identifying the cause of high androgen levels in women with PCOS is crucial and requires specific tests.
research Association between SQSTM1 dysregulation and risk in alopecia areata: a Mendelian randomization study
SQSTM1 gene issues may increase the risk of alopecia areata.
research Secondary amenorrhoea with absent axillary hair
The patient's long-term symptoms were due to Sheehan's syndrome, which improved with hormone therapy.
research Association of Human Beta – Defensin 1 Gene Polymorphisms with Alopecia Areata Patients
Certain gene variations may increase the risk and severity of alopecia areata.
research Visual Vignette
The woman's symptoms and tests suggest her adrenal glands are producing too many male hormones.
research Genotype-phenotype correlation in boys with X-linked hypohidrotic ectodermal dysplasia
Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
research Alopecia Universalis with Frequently Relapsing Nephrotic Syndrome of Infantile Onset: A Rare Presentation
A rare case links early-onset alopecia universalis and nephrotic syndrome, suggesting genetic immune issues.