research Non-Dietary Scurvy With Relapse Symptoms After Stopping Oral Vitamin C Supplementation
A 3-year-old girl developed scurvy symptoms that improved with vitamin C but relapsed when supplementation stopped.
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research Ability to Cycle Despite Severe Freezing of Gait in Atypical Parkinsonism in Fahr's Syndrome
Finasteride significantly reduced tics and obsessive-compulsive symptoms in Tourette syndrome patients.
research Encephalitis Lethargica Due to Epstein–Barr Virus Infection
Finasteride may help reduce tic severity in male Tourette syndrome patients.
research An Update on Diagnosis and Treatment of Female Pattern Hair Loss
Updated treatments for female hair loss include minoxidil, antiandrogens, hair transplants, and light therapy.
research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
research Endocrine Disorders and Infertility
Hormone imbalances from the pituitary, thyroid, and adrenal glands can cause infertility, but treating these disorders can improve fertility.
research Nonfebrile Seizures in Pediatrics: Key Points to Remember
Early diagnosis and treatment of hereditary vitamin D-resistant rickets (HVDRR) are crucial to prevent growth issues and other health problems.
research Focal Dermal Hypoplasia Associated With Lymphedema: A Case Report From Saudi Arabia
A 12-year-old girl in Saudi Arabia with Focal dermal hypoplasia showed skin and dental symptoms, highlighting the condition's variability and the need for personalized treatment.
research The Feasibility and Utility of Hair Follicle Sampling to Measure FMRP and FMR1 mRNA in Children With or Without Fragile X Syndrome
Hair follicle sampling is a feasible method to measure FMRP and FMR1 mRNA levels in children.
research Can Extra-Adrenal Cortisol Secretion Occur in an Adrenalectomized Patient?
A patient produced cortisol after adrenalectomy, possibly due to residual tissue or other body parts making steroids.
research Case Report: Disorder of Sex Development 46, XY with Proximal Hypospadias in a 10-Year-Old Twin Boy
A 10-year-old boy with abnormal genital development had surgery and tests to find the cause and plan treatment.
research Inherited Epidermolysis Bullosa: A Clinical Case
A 37-year-old male with severe skin and internal issues has a rare inherited skin condition called dystrophic epidermolysis bullosa.
research The North American Menopause Society Recommendations for Clinical Care of Midlife Women
The NAMS 2014 recommendations guide healthcare providers on treating health issues in midlife women, emphasizing individualized care and informed decision-making.
research Congenital Adrenal Hyperplasia: Comprehensive Overview and Clinical Management
The document concludes that proper diagnosis and a multidisciplinary approach are crucial for managing Congenital Adrenal Hyperplasia effectively.
research WNT10A Mutation Causes Ectodermal Dysplasia by Impairing Progenitor Cell Proliferation and KLF4-Mediated Differentiation
A WNT10A gene mutation leads to ectodermal dysplasia by disrupting cell growth and differentiation.
research A Novel Point Mutation in the Ligand-Binding Domain of the Human Glucocorticoid Receptor Causing Generalized Glucocorticoid Resistance: The Importance of the C Terminus in Conferring Transactivational Activity
A new mutation in the human glucocorticoid receptor reduces its function and causes resistance to glucocorticoids.
research Congenital Adrenal Hyperplasia: A Comprehensive Review
The document concludes that early diagnosis and treatment of Congenital Adrenal Hyperplasia are crucial for preventing serious health issues and improving patient outcomes.
research Beyond Expectations: The Role of Keratin Intermediate Filament Proteins in Epidermal Integrity
Keratin proteins are crucial for healthy skin, but mutations can cause skin disorders with no effective treatments yet.
research Oral Manifestations of Hematologic and Nutritional Diseases
Recognizing oral symptoms can help diagnose and treat blood and nutritional diseases early.
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 Cushing Syndrome from Percutaneous Absorption of 1% Hydrocortisone Ointment in Netherton Syndrome
Low-potency steroids can cause serious side effects in people with skin conditions like Netherton syndrome.
research Dermatologic Side Effects of Psychotropic Medications
Psychotropic medications can cause skin reactions, including severe conditions like SJS and TEN, and it's important for psychiatrists to recognize and manage these side effects.
research Skin Manifestations Among GATA2-Deficient Patients
Patients with GATA2 deficiency show early skin symptoms that help diagnose the condition.
research Reproductive Endocrinologists Are the Gatekeepers for Male Infertility Care in North America: Results of a North American Survey on the Referral Patterns and Characteristics of Men Presenting to Male Infertility Specialists for Infertility Investigations
Reproductive gynecologists are the main referrers for male infertility evaluations in North America.
research The Hirsute Woman: Challenges in Evaluation and Management
Most hirsutism cases are due to PCOS, and treatment focuses on lowering testosterone and blocking its effects.
research Ptosis in Childhood: Causes, Clinical Presentations, and Management
Childhood ptosis can vary from a minor cosmetic issue to a serious condition and may signal other health problems.
research Characterization of X-Linked Hypohidrotic Ectodermal Dysplasia Hair and Sweat Gland Phenotypes Using Phototrichogram Analysis and Live Confocal Imaging
People with X-linked hypohidrotic ectodermal dysplasia have no sweat ducts and less, thinner hair.
research Cantú Syndrome with Coexisting Familial Pituitary Adenoma
Cantú syndrome may be linked to pituitary adenomas.
research Dermatologic Manifestations of Endocrine Disorders
Skin problems can be signs of hormone-related disorders and recognizing them early is important for treatment.
research LC-MS/MS Improves Screening Towards 21-Hydroxylase Deficiency
LC-MS/MS is more reliable than immunoassays for diagnosing 21-hydroxylase deficiency.