research Omenn syndrome in a 10-month-old male with athymia and VACTERL association
A 10-month-old boy with a rare combination of genetic conditions has severe immune deficiency and treatment challenges.
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research Altered autonomic neural control of the cardiovascular system in patients with polycystic ovary syndrome
People with polycystic ovary syndrome may have a higher risk of heart problems due to abnormal nervous system control of their heart and blood pressure.
research Lack of association between clinical and biochemical hyperandrogenism in patients with polycystic ovary syndrome
Clinical signs of excess male hormones and actual hormone levels in the blood do not always match in women with polycystic ovary syndrome.
research Ichthyosis linearis circumflexa with bamboo hair: challenges in the diagnosis and management
A 15-year-old boy's skin and hair condition worsened due to improper treatment, leading to severe health issues.
research Netherton Syndrome
Netherton syndrome is a genetic skin disorder causing severe skin issues and requires careful treatment to protect the skin barrier.
research Pulmonary manifestations of Birt-Hogg-Dubé syndrome
People with Birt-Hogg-Dubé syndrome often have lung problems and delayed diagnosis, and better recognition of CT scan signs could improve diagnosis and management.
research Becker’s Nevus Syndrome in a Pediatric Female Patient
A girl with Becker's nevus syndrome showed good improvement in breast development using spironolactone.
research Polymorphisms of Vitamin D Receptor and the Effect on Metabolic and Endocrine Abnormalities in Polycystic Ovary Syndrome: A Review
Different forms of the Vitamin D receptor can impact metabolic and hormone issues in Polycystic Ovary Syndrome.
research Atrichia With Papular Lesions
The condition is likely inherited in an autosomal-dominant pattern.
research A clinical case of CNOT3 syndrome in a 10-year-old girl
Early diagnosis and multidisciplinary care are crucial for managing CNOT3 syndrome.
research Ovarian SAHA syndrome is associated with a more insulin-resistant profile and represents an independent risk factor for glucose abnormalities in women with polycystic ovary syndrome: A prospective controlled study
Ovarian SAHA syndrome makes women with PCOS more resistant to insulin and increases their risk of blood sugar problems.
research Cutaneous manifestations of the subtypes of polycystic ovary syndrome in Korean patients
Korean patients with PCOS often have skin problems like acne and excess hair, with different symptoms based on their specific PCOS type.
research Prevalence of various phenotypes of polycystic ovarian syndrome among high school girls of Shiraz (2009)
Early investigation of PCOS in high school girls is necessary due to associated risks and side effects.
research A Rare Presentation of Late Latent Syphilis With Alopecia and Polyarticular Joint Pain in a 17-Year-old Teenager
Syphilis can cause unusual symptoms like hair loss and joint pain, but treatment is effective.
research Post-finasteride syndrome - a true clinical entity?
research Neuropsychiatric Systemic Lupus Erythematosus Presenting as Bipolar I Disorder With Catatonic Features
A girl initially thought to have a psychiatric disorder was later found to have a lupus-related condition, which improved with proper treatment.
research Female Gender Scheme is Disturbed by Polycystic Ovary Syndrome: A Qualitative Study From Iran
Polycystic Ovary Syndrome (PCOS) affects Iranian women's feelings of femininity and self-image.
research CPC12 Coinheritance of BRCA2 and CYLD germline pathogenic variants associated with targetable metastatic malignant cylindroma
Coinheritance of BRCA2 and CYLD genes may lead to new treatment options for certain cancers.
research Polycystic ovary syndrome (PCOS)
The French Endocrine Society suggests diagnosing PCOS with two of three signs, recommends lifestyle changes and clomiphene for treatment, and calls for more research on certain treatments and tests.
research The PCOS Phenotypes in Unselected Populations (P-PUP) study: participant clinical features and data harmonization on analysis of individual participant data
PCOS affects 11% of women, highlighting the need for standardized diagnosis.
research Can we identify a post‐Serenoa syndrome (PSS)? A case series on sexual and psychiatric side effects of Serenoa repens
Serenoa repens may cause long-lasting sexual and psychiatric side effects.
research Hypotrichosis congenita of Marie Unna
A 54-year-old woman experienced progressive hair loss starting in adolescence, leading to sparse scalp hair and almost no eyebrows or eyelashes.
research Two Incidental Sibling Diagnoses of Netherton Syndrome in Separate Visits: A Case Report
Doctors should consider Netherton syndrome in patients with chronic skin and hair issues to avoid misdiagnosis.
research OR20-01 Machine Learning-based Steroid Metabolome Analysis In Women With Polycystic Ovary Syndrome Reveals Three Distinct Androgen Excess Subtypes With Different Metabolic Risk Profiles.
Machine learning identified three unique subtypes of androgen excess in women with PCOS, each with different metabolic risks.
research Inherited ichthyosis: Syndromic forms
Understanding the genetics of rare inherited ichthyosis syndromes is key for better treatments and genetic counseling.
research Graham-Little Piccardi Lassueur Syndrome and review of the literature
Graham-Little Piccardi Lassueur Syndrome is a rare skin condition with specific hair loss and skin symptoms.
research Metabolic and reproductive characteristics of first-degree relatives of women with self-reported oligo-amenorrhoea and hirsutism
Relatives of women with PCOS symptoms are more likely to have similar health issues.
research A disease-causing novel missense mutation in the ST14 gene underlies autosomal recessive ichthyosis with hypotrichosis syndrome in a consanguineous family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
research Polycystic ovarian syndrome
PCOS is a common hormonal disorder with symptoms like irregular periods and excess hair growth, managed with lifestyle changes and medications.
research Polycystic Ovaries: A Cross Sectional Study on Unmarried Girls in KSA
PCOS affects many young women in KSA, with mild cases being most common.