research Diagnosing polycystic ovary syndrome
PCOS is diagnosed when at least two of these three features are present: polycystic ovaries, irregular ovulation, and high androgen levels.
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810-840 / 1000+ results research Case report: Acrodermatitis enteropathica result from a novel SLC39A4 gene mutation
A girl with skin rashes and low zinc levels improved with zinc supplements and had new gene mutations linked to her condition.
research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
research Hair Anomalies in a 6-Year-Old Girl
A 6-year-old girl was diagnosed with a rare hair disorder called monilethrix.
research Androgen Secreting Steroid Cell Tumor of the Ovary Represented with Postmenopasal Bleeding and Extensive Hirsutism
A woman's excessive hair growth and high testosterone were caused by a rare ovarian tumor, which was successfully treated with surgery.
research Visual Diagnosis: An Adolescent Female Who Has Increasing Hair Growth
The girl has a hormonal imbalance causing increased hair growth and other male characteristics.
research Hyperandrogenism, Elevated 17-Hydroxyprogesterone and Its Urinary Metabolites in a Young Woman with Ovarian Steroid Cell Tumor, Not Otherwise Specified: Case Report and Review of the Literature
A young woman's symptoms suggested PCOS, but tests and surgery confirmed and treated a rare ovarian tumor, resolving her condition.
research A prospective study of the prevalence of clear-cut endocrine disorders and polycystic ovaries in 350 patients presenting with hirsutism or androgenic alopecia
Most women with hirsutism or androgenic alopecia had polycystic ovaries, especially if they had irregular periods.
research FOX FORDYCE DISEASE IN A PREPUBERTAL GIRL
A 10-year-old girl with Fox Fordyce disease improved with treatment, suggesting the disease can occur before puberty and might be underdiagnosed in young girls.
research Evaluation of Premature Pubarche Cases: A Single CenterExperience
Careful diagnosis is crucial for premature pubarche, as 20% of cases have other conditions.
research Diffuse hair loss in Addison disease: A reason for X-linked adrenoleukodystrophy screening
Men with Addison disease should be screened for X-linked adrenoleukodystrophy if they have hair loss.
research Androgen excess: a hallmark of polycystic ovary syndrome
Excess androgens may cause PCOS, not just be a symptom.
research Expanding the Clinical and Mutational Spectrum of Recessive AEBP1-Related Classical-Like Ehlers-Danlos Syndrome
The study concludes that mutations in the AEBP1 gene can cause a form of Ehlers-Danlos syndrome and should be considered in diagnosis.
research SAT-214 Satoyoshi Syndrome: A Rare Cause of Premature Ovarian Failure
Satoyoshi syndrome can occur without causing premature ovarian failure.
research Autosomal recessive hereditary hypotrichosis simplex: A case report
A 21-month-old boy has a rare genetic disorder causing sparse hair due to an LSS gene mutation.
research Clinical analysis of 78 patients with non-classical 21-hydroxylase deficiency
Low-dose glucocorticoid treatment improves pregnancy and birth rates in women with nonclassical 21-hydroxylase deficiency.
research PMON225 Androgen excess in pre-menopausal women due to Granulosa Cell tumor: A case report.
Removing the ovarian tumor improved the woman's hormonal symptoms.
research A Brazilian case of IFAP syndrome with severe congenital ichthyosis and limb malformations caused by a rare variant in MBTPS2
A Brazilian male with IFAP syndrome has a unique genetic variant causing his condition.
research Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis
Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
research Moniletrix of the scalp from almost normal aspect to total alopecia: variable intrafamilial expressiveness
Monilethrix causes different levels of hair loss in family members.
research A Complex Clinical Situation in Polycystic Ovary Syndrome: HAIR‐AN Syndrome ‘‘Case Report’’
Early detection, consistent management, and lifestyle changes are crucial for managing HAIR-AN syndrome effectively.
research IDEA Group Consensus Statement on Medical Management of Adult Gender Incongruent Individuals Seeking Gender Affirmation as Male
The statement offers guidance for hormone therapy and surgery to help gender-incongruent adults affirm a male identity.
research Sertoli-Leydig cell ovarian tumour: a rare cause of virilisation and androgenic alopecia
A rare ovarian tumor caused high testosterone, hair loss, and missed periods, but surgery fixed these issues and led to pregnancy.
research Male-Pattern Baldness in Men with X-Linked Recessive Ichthyosis
Men with X-linked recessive ichthyosis can still experience male-pattern baldness.
research Heterozygous KRT32 variant is responsible for autosomal dominant loose anagen hair syndrome
A KRT32 gene variant causes loose anagen hair syndrome.
research Diagnosis and Treatment of Polycystic Ovary Syndrome: An Endocrine Society Clinical Practice Guideline
The guideline suggests using specific criteria to diagnose PCOS, recommends various treatments for its symptoms, and advises screening for related health issues.
research Apparent Cortisone Reductase Deficiency: A Rare Cause of Hyperandrogenemia and Hypercortisolism
Cortisone reductase deficiency can cause high androgen and cortisol levels and may be missed in women with similar symptoms.
research [Androgenic alopecia revealing an androgen secreting ovarian tumor].
An 80-year-old woman's severe hair loss was caused by a hormone-secreting ovarian tumor.
research Acromegaloid Facial Appearance: Case Report and Literature Review
The document concludes that AFA should be considered in patients with acromegaly-like features but normal hormone levels, and more cases need to be identified to understand the condition fully.
research SAT-080 An Atypical Adenoma Presenting with Hyperandrogenism: A Rare Case Presentation on a Pituitary Germ Cell Tumor
A rare pituitary tumor in an 18-year-old male caused hormonal issues and vision loss, requiring surgery and further treatment.