research Index of Suspicion
The girl's symptoms suggest a complex condition that's hard to diagnose despite normal test results.
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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 Hypotrichosis with juvenile macular dystrophy
A rare genetic disease causes sparse hair and early blindness due to a gene mutation.
research A rare case of woolly hair with unusual associations
The document reports a unique case of woolly hair with a combination of conditions not previously seen together.
research A case of 21-hydroxylase deficiency in Turner′s syndrome and literature review
Routine genetic testing is crucial for early diagnosis and better management of Turner’s syndrome with 21-hydroxylase deficiency.
research Polycystic Ovary Syndrome: A Common But Often Unrecognized Condition
Polycystic Ovary Syndrome is common but often undiagnosed, and early treatment is important to prevent health problems.
research How to diagnose a lipodystrophy syndrome
The document concludes that recognizing and properly diagnosing lipodystrophy syndromes is crucial for effective management and treatment.
research What may be the markers of the male equivalent of polycystic ovary syndrome?
Some men with early hair loss may have a condition similar to PCOS in women.
research The pediatric origins of polycystic ovary syndrome
Early signs of PCOS in girls, like irregular periods and polycystic ovaries, suggest a need for early diagnosis and intervention to prevent further health issues.
research Woolly Hair in Two Siblings
Two siblings have a rare genetic condition causing curly, coarse hair.
research An Australian family with macular dystrophy linked to autosomal recessive alopecia universalis
An Australian with rare hair loss and eye conditions had a gene linked to both, not seen together before.
research Different phenotypes in a family with androgen insensitivity caused by the same M780I point mutation in the androgen receptor gene.
The same gene mutation can cause different symptoms in family members.
research Association of eNOS and STAT6 Gene Polymorphisms with the Susceptibility of Polycystic Ovary Syndrome in South Indian Women
Certain gene variations may increase the risk of PCOS in South Indian women.
research Polycystic ovary syndrome and insulin-resistant hyperinsulinemia
Insulin resistance contributes to hormone imbalances in many women with polycystic ovary syndrome.
research S2608 A Rare Case of Iron Deficiency Anemia: Cronkhite-Canada Syndrome
Cronkhite-Canada syndrome is rare, with high mortality and cancer risk, needing more research for treatment guidelines.
research Two cases of aplasia cutis congenita with hair collar signs and macrophage hyperplasia
Two cases showed skin abnormalities without bone or neural defects.
research Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients
Arab APS1 patients have unique and recurrent AIRE gene mutations.
research Polycystic Ovarian Syndrome - A Pain for Young Women? An Autobiographical Case Studies
Early diagnosis and treatment of PCOS can prevent complications and improve symptoms.
research Homozygous Dominant Missense Mutation in Keratin 17 Leads to Alopecia in Addition to Severe Pachyonychia Congenita
A specific gene mutation causes severe skin and nail issues and hair loss.
research Polycystic Ovarian Syndrome in Female players
PCOS is common, affects fertility, and needs early diagnosis and lifestyle changes for management.
research Μελέτη του επιπολασμού της υπερανδρογοναιμίας σε Ελληνίδες γυναίκες με σύνδρομο πολυκυστικών ωοθηκών με βάση τα δύο διαφορετικά κριτήρια διάγνωσης (NIH 1990, Rotterdam 2004)
Accurate diagnosis of PCOS requires comprehensive androgen measurement.
research Structural Abnormalities in the Hair of a Patient with a Novel Ribosomopathy
The patient's hair was thinner and had fewer lipids due to a genetic mutation.
research Lanceolate Hair (lah): A Recessive Mouse Mutation with Alopecia and Abnormal Hair
Mice with the 'lanceolate hair' mutation have abnormal hair and skin similar to human Netherton's syndrome.
research AN OVERVIEW OF AMENORRHEA
Amenorrhea, or missing periods, is caused by various factors and is treated based on the specific cause.
research Skin features in myotonic dystrophy type 1: An observational study
People with Myotonic Dystrophy type 1 are more likely to have certain skin conditions, but not more likely to get skin cancer.
research KERATIN 17-related recessive atypical pachyonychia congenita with variable hair and tooth anomalies
A new type of pachyonychia congenita linked to a specific keratin gene mutation was found in two Pakistani families.
research A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused byDSPmutations
A child with skin and heart issues had rare genetic mutations affecting skin and heart cell cohesion.
research Madarosis from mitochondriopathy
Mitochondriopathy may cause eyelash loss.
research Hutchinson-Gilford progeria syndrome: Report of 2 cases and a novel LMNA mutation of HGPS in China
A new genetic mutation linked to Hutchinson-Gilford progeria syndrome was found in China.
research Polycystic Ovary Syndrome (PCOS): A Concerning Hormonal Condition and its Bodily Impact on Women
PCOS is a hormonal disorder in women that can cause infertility and increases the risk of heart and metabolic issues.