research NEW YORK ACADEMY OF MEDICINE, SECTION ON DERMATOLOGY AND SYPHILIS
An 8-year-old boy with Recklinghausen's Disease shows various symptoms and is from a family with close genetic ties.
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330-360 / 1000+ resultsresearch Novel RNF113A Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother
A new genetic variant causes trichothiodystrophy in two brothers, but their mother may carry it without showing symptoms.
research A Case Report of Werner’s Syndrome With a Novel Mutation From India
A new genetic mutation causing Werner's syndrome was found in an Indian man.
research Polycystic Ovary Syndrome in Adolescence
PCOS starts in adolescence with hormonal issues, leading to adult health problems, and early treatment is crucial.
research Ovarian intratumoral 21-hydroxylase deficiency in a postmenopausal hirsute woman
A postmenopausal woman's masculine symptoms improved after surgery for a hormone-producing ovarian tumor.
research Rare virilizing tumor: ovarian steroid cell tumor, not otherwise specified: a case report
A 20-year-old woman was found to have a rare ovarian tumor causing symptoms like acne and a low-pitched voice, which disappeared after the tumor was removed.
research Virilizing ovarian steroid cell tumor in a 40 year old South Indian female: a case report
A woman's masculine symptoms were caused by an ovarian tumor, which improved after surgery.
research Body Composition and Characterization of Skinfold Thicknesses from Polycystic Ovary Syndrome Phenotypes. A Preliminar Case-Control Study
Women with PCOS have higher body fat and skinfold thickness, especially in the H-O-POM phenotype.
research Defects in Androgen Biosynthesis Causing 46,XY Disorders of Sexual Development
Genetic defects in androgen production are linked to male developmental disorders and are improving treatment understanding.
research POSTMENOPAUSAL HIRSUTISM: A CASE REPORT
A rare ovarian tumor caused a postmenopausal woman to develop male-like features, which improved after surgery.
research 7745 Hirsutism in young girls: Beyond PCOS
Hirsutism in young girls can have various causes beyond PCOS, so diagnoses should be reconsidered if treatments don't work.
research SAT-288 Successful Virilization of a PAIS Patient with a Missense Mutation In The Ligand-binding Domain Of The Androgen Receptor with Combined High-dose Testosterone and Aromatase Inhibitor
A 12-year-old boy with PAIS successfully developed male characteristics using high-dose testosterone and anastrozole.
research Growing Up Fast: Managing Autism Spectrum Disorder and Precocious Puberty
The document discusses a young boy with autism and early puberty but does not provide a conclusion on managing his behavior.
research A rational approach to the diagnosis of polycystic ovarian syndrome during adolescence
Diagnosing PCOS in teenagers should focus on signs of excess male hormones and not rely solely on ovarian ultrasound or irregular periods, and should be reassessed in adulthood.
research Machine learning-based steroid metabolome analysis reveals three distinct subtypes of polycystic ovary syndrome and implicates 11-oxygenated androgens as major drivers of metabolic risk
PCOS has three subtypes, with 11-oxygenated androgens increasing metabolic risk.
research Nonclassic 21-hydroxylase deficiency
Nonclassic 21-hydroxylase deficiency is a common, treatable genetic disorder causing reversible symptoms like acne and hair loss.
research The prevalence of metabolic disorders in various phenotypes of polycystic ovary syndrome: a community based study in Southwest of Iran
Different types of PCOS have different levels of metabolic problems, with the most severe type showing the highest disturbances.
research Disorders linked to insufficient androgen action in male children
Insufficient androgen action in male fetuses can cause genital development issues due to genetic mutations or environmental chemicals.
research Abordagens psicológicas e novas terapêuticas perante as escolhas do paciente portador da Síndrome de Morris
Patients with Complete Androgen Insensitivity Syndrome need psychological support and multidisciplinary care for complex treatment decisions.
research 7696 Ovarian Steroid Cell Tumor Presenting as Non-classical Adrenal Hyperplasia
Early detection of ovarian steroid cell tumors is crucial to prevent lasting symptoms.
research POLİKİSTİK OVER SENDROMU'NUN ALT GRUPLARINDA METABOLİK ÖZELLİKLER
Different PCOS subgroups have similar metabolic features, but those without menstrual problems have milder issues.
research A Rare Case of Adolescent Girl with Beard-PCOS with a Difference: “HAIR-AN Syndrome”
A 16-year-old girl with HAIR-AN syndrome was treated with lifestyle changes and medications to manage her condition.
research Test With Oral Administration of Clomiphene May Add to Differential Diagnosis of Severe Hyperandrogenism in Postmenopausal Women - A Case Report
Clomiphene testing can help find ovarian causes of high testosterone in postmenopausal women.
research REPRODUCTIVE HORMONE LEVELS AND METABOLIC SYNDROME IN WOMEN WITH POLYCYSTIC OVARY SYNDROME IN SANA'A, YEMEN
PCOS is linked to hormone disorders and issues like infertility and irregular periods.
research Rare Conditions of Hyperandrogenism Through Lifespan: A Case Series
Accurate diagnosis of rare hyperandrogenism conditions requires detailed testing and sometimes invasive procedures.
research Frequency of polycystic ovarian syndrome in women with postadolescent acne
Women with acne after adolescence are more likely to have PCOS and should be checked for it.
research KID Syndrome: Report of a Case and Support for Its Reclassification as an Ectodermal Dysplasia
KID syndrome should be reclassified as an ectodermal dysplasia.
research Delayed diagnosis of Kearns-Sayre syndrome in a 38-year-old male patient: a case report.
A 38-year-old man was diagnosed late with Kearns-Sayre syndrome after being wrongly treated for epilepsy.
research Acne, Hirsutism, and Alopecia in Adolescent Girls: Clinical Expressions of Androgen Excess
research Syndromic epidermolysis bullosa simplex subtype due to mutations in the KLHL24 gene: series of case reports in Russian families
Mutations in the KLHL24 gene cause a skin disorder in some Russian families.