research POLYCYSTIC OVARIAN SYNDROME - A PROBLEM OF MODERN MEDICINE
PCOS is a major health issue affecting multiple hormone-producing organs.
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540-570 / 1000+ resultsresearch Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers
The LMNA mutation affects skin structure even in asymptomatic carriers.
research Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
research Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes
Identical twins had different symptoms because one had more cells with an extra chromosome fragment in different tissues.
research A case of localized uncombable hair syndrome
A 4-year-old girl had a rare hair disorder affecting only part of her scalp.
research A Case of Cronkhite-Canada Syndrome Presenting with Hematochezia
Cronkhite-Canada syndrome can cause multiple gastrointestinal polyps and various physical symptoms.
research 20th Annual Symposium of the British Society of Paediatric Dermatology, 11-12 November 2005, Newcastle upon Tyne, U.K.
The document reports unique growth lines in a child after Stevens-Johnson syndrome, skin reaction from parsnips and sun in a girl, and itchy skin with xanthomas in a boy with Alagille syndrome.
research SAT320 Cyclic Cushing Syndrome Caused By An ACTH-Producing Pheochromocytoma
A woman's cyclic Cushing syndrome was caused by a tumor in her adrenal gland that produced ACTH.
research Cronkhite-Canada Syndrome: A Case Report and Literature Review of Gastrointestinal Polyposis Syndrome
Cronkhite-Canada syndrome is a rare condition causing gut polyps, hair loss, skin changes, and nail issues, often with a poor outlook.
research Expanding the Phenotypic Spectrum of Olmsted Syndrome
TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
research A Comparison of the Hormonal Profile of Early Androgenetic Alopecia in Men With the Phenotypic Equivalent of Polycystic Ovarian Syndrome in Women
Men with early hair loss have similar hormone levels to women with PCOS, possibly increasing risk of obesity and heart issues.
research Adult polycystic ovary syndrome begins in childhood
Polycystic Ovary Syndrome likely starts in childhood and may be genetic and influenced by early hormone exposure.
research Pseudo-Cushing Syndrome
Pseudo-Cushing's symptoms disappear once the underlying issue is resolved.
research De novo variation in ARID1B gene causes Coffin-Siris syndrome 1 in a Chinese family with excessive early-onset high myopia
A new ARID1B gene variation causes Coffin-Siris syndrome 1 and early high myopia in a Chinese family.
research Salt-losing tubulopathy and chronic dermatitis
Genetic testing for EGFR mutations is crucial in similar cases.
research Becker's nevus associated with chromosomal mosaicism and congenital adrenal hyperplasia
High androgen levels and genetic factors likely cause Becker's nevus and related symptoms.
research Progressively intractable seizures, focal alopecia, and hemimegalencephaly
The boy had a unique condition with seizures, uneven hair loss, and an enlarged brain hemisphere.
research Pediatric Features of Genetic Predisposition to Polycystic Ovary Syndrome
Genetic risk for PCOS can affect children's growth, metabolism, and development from early life into adulthood.
research Olmsted Syndrome Caused by a Heterozygous p.Gly568Val Missense Mutation in TRPV3 Gene
A specific gene mutation causes Olmsted syndrome.
research Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia
New mutations in the hairless gene may cause hair loss and affect bone development.
research “Osler’s phenomenon”: misdiagnosing Cushing’s syndrome
Doctors often diagnose Cushing's syndrome late, which worsens symptoms; earlier detection is needed.
research Congenital atrichia with papular lesions: a rare cause of irreversible childhood alopecia
Congenital atrichia with papular lesions causes permanent hair loss in children.
research 53289 Clinical and metabolic characteristics of male patients with early-onset androgenetic alopecia: A possible predisposition to metabolic syndrome
Early-onset male baldness may increase the risk of metabolic syndrome.
research [Hormonal profile in men with premature androgenic alopecia].
Early balding in men might be a male hormonal equivalent of polycystic ovaries syndrome in women.
research Gonadal profile in men with early-onset androgenetic alopecia: does a male PCOS-equivalent syndrome exist?
Men with early hair loss and certain health factors may have a higher risk of developing reproductive issues, similar to polycystic ovary syndrome in women.
research 6 Current concepts of polycystic ovary syndrome
PCOS is often caused by hormonal imbalances that can lead to various health issues and may indicate a risk for future metabolic and cardiovascular problems.
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 RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research SUN-207 Hot Flashes, Flushing, and Sweating in a Middle-Aged Man with Pituitary Macroadenoma
Middle-aged men with unusual hot flashes should be checked for pituitary tumors.
research Nėštumas sergant policistinių kiaušidžių sindromu: literatūros apžvalga
PCOS increases risks of gestational diabetes, hypertension, and caesarian deliveries in pregnancy.