research Influence of Genotype and Hyperandrogenism on Sexual Function in Women With Congenital Adrenal Hyperplasia
Women with nonclassic congenital adrenal hyperplasia experience more sexual dysfunction and distress.
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research Challenges in the Diagnosis of Simple-Virilizing Congenital Adrenal Hyperplasia: A Case Report
Diagnosing simple-virilizing congenital adrenal hyperplasia can be difficult and requires thorough testing and expert advice.
research The Diagnosis of Nonclassic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Based on Serum Basal or Post-ACTH Stimulation 17-Hydroxyprogesterone Can Lead to False-Positive Diagnosis
Using 17-hydroxyprogesterone levels to diagnose nonclassic congenital adrenal hyperplasia can result in many incorrect diagnoses.
research Status of Sex Reassignment Surgery for Gender Identity Disorder in Japan
In Japan, sex reassignment surgery for gender identity disorder faces challenges and needs better medical support and education.
research Resolution of Pseudoainhum with Acitretin Therapy in a Patient with Palmoplantar Keratoderma and Congenital Alopecia
Acitretin helped improve hand mobility and skin condition in a patient.
research A Rare Cause of Irrevocable Childhood Alopecia Feigning Alopecia Universalis: Atrichia Congenita With Papular Lesions
An 8-year-old girl has a rare genetic disorder causing complete, irreversible hair loss and skin bumps.
research Rare Association of Congenital Triangular Alopecia with Vitiligo
Congenital triangular alopecia and vitiligo can occur together, but treatment for one may not affect the other.
research A Syndrome of Congenital Ichthyosis, Mental Retardation, Myopathy, and Anemia in Dizygotic Twin Sisters
The twins' condition is unique and doesn't match any known syndromes.
research Multi-Dermatomal Unilateral Nevus Comedonicus Along the Lines of Blaschko: A Rare Presentation
A rare skin disorder, nevus comedonicus, can appear on one side of the body following Blaschko's lines.
research Surgical Approach of Ectropion in Lamellar Ichthyosis
Surgery on a baby with a skin disorder improved eyelid position and eye health.
research Challenges in Treatment of Patients With Non-Classic Congenital Adrenal Hyperplasia
Treating non-classic congenital adrenal hyperplasia is complex because the benefits of hormone treatment must be weighed against potential health risks.
research A Case of MBTPS1-Related Disorder Due to Compound Heterozygous Variants in MBTPS1 Gene: Genotype-Phenotype Expansion and the Emergence of a Novel Syndrome
A new syndrome was linked to two new genetic changes in the MBTPS1 gene in a 14-year-old girl.
research Diagnostic Value of Chromosomal Microarray Analysis in Patients With Congenital Anomalies and Dysmorphic Features; Details of Two New Patients With 2q33 Deletions
Chromosomal microarray analysis is important for diagnosing rare genetic variations and guiding treatment.
research New Onset of Alopecia in a Young Woman with End-Stage Renal Disease
A young woman with kidney failure had hair loss due to a common hormonal disorder, which improved with hormone therapy.
research The Role of Lysophosphatidic Acid in the Physiology and Pathology of the Skin
Lysophosphatidic acid is important for skin health and disease, and could be a target for new skin disorder treatments.
research Progressive Metabolic Dysfunction-Associated Steatotic Liver Disease from a Young Age Due to a Rare Genetic Disorder, Familial Partial Lipodystrophy: A Case Report and Review of the Literature
Recognizing rare causes of MASLD is crucial for effective treatment and preventing complications.
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 Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
research Hypoparathyroidism as the Single Major Component for Decades of Autoimmune Polyglandular Syndrome Type 1
A man with hypoparathyroidism had other health issues that led to a diagnosis of a rare autoimmune disorder, APS-1.
research Congenital Hypotrichosis Due to Short Anagen Phase
Some children are born with unusually short, fine hair because their hair growth phase is short, but this often gets better by itself during puberty.
research Androgenetic Alopecia in the Pediatric Population: A Retrospective Review of 57 Patients
Alopecia common in teens, may indicate endocrine issue, minoxidil effective treatment.
research Diagnosis and Management of Alopecia in Children
The guide explains how to identify and treat children's hair loss, including fungal infections, autoimmune disorders, hairstyle changes, self-correcting conditions, and behavioral therapy for hair-pulling.
research Dermatologic Manifestations of Endocrine Disorders
Skin problems can be signs of hormone-related disorders and recognizing them early is important for treatment.
research Cutaneous Mastocytosis Associated With Congenital Alopecia
A 3-year-old girl with skin mast cell buildup and congenital baldness improved with treatment, suggesting a rare link between these conditions.
research Nonclassic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency: Pathophysiology, Diagnosis, and Treatment
The document concludes that Nonclassic Congenital Adrenal Hyperplasia requires personalized treatment plans to manage symptoms and fertility, with glucocorticoids being a common therapy.
research Congenital Hair Loss Disorders: Rare, But Not Too Rare
Some hair loss disorders are caused by genetic mutations affecting hair growth.
research Pattern of Skin Diseases in Geriatric Patients Attending Tertiary Care Centre
Older adults often have dry skin and itching, with high blood pressure frequently linked to skin problems.
research Encephalocraniocutaneous Lipomatosis: Congenital Alopecia Treatment in a Rare Neurocutaneous Syndrome
A girl with a rare syndrome had successful hair loss treatment with no relapse after 4 years.
research Sparse Hairs Below Frontal Hairline Are Early Sign of Androgenetic Alopecia in Men
Sparse hairs below frontal hairline can indicate early male balding.
research A Case of Acquired Trichorrhexis Nodosa After Applying New Hair Spray
New hair spray caused a hair shaft disorder.