research Steroid Cell Tumor Without Virilization
A rare ovarian tumor can occur without causing male-like symptoms.
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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 Ectodermal Dysplasia: Variable Expressions
Early diagnosis and multidisciplinary care are crucial for improving the quality of life in patients with ectodermal dysplasia.
research Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report
A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.
research Adrenoleukodystrophy: A Rare Case Report
Early diagnosis and genetic counseling are crucial for managing adrenoleukodystrophy.
research [Commentary] The Polyfollicular Anovulatory Androgenic Syndrome: A New Label for an Old Syndrome
Mohamed Kandil suggests renaming Polycystic Ovary Syndrome to "Polyfollicular Anovulatory Androgenic Syndrome" to better describe its symptoms, but concerns exist that it may not cover all related issues like obesity and depression.
research Faculty Opinions recommendation of Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria.
PCOS shares similar genetic traits across different diagnosis criteria and is linked to other health conditions.
research A case of encephalocraniocutaneous lipomatosis
The document reports a rare case of ECCL with a new association with optic disc colobomas.
research Overview of Polycystic Ovary Syndrome (PCOS)
research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
research A Case of Ovarian Hyperthecosis in a Postmenopausal Woman
A postmenopausal woman's excess male hormone symptoms improved after her ovaries were removed.
research Satoyoshi syndrome: A rare multisystemic disorder requiring systemic and symptomatic treatment
A patient with Satoyoshi syndrome improved with a treatment combining several medications, including carbamazepine and methotrexate.
research Landing Eyes on Unnoticed Disorder: A Polycystic Ovary Syndrome
Polycystic Ovary Syndrome (PCOS) is a common but often undiagnosed disorder in women that can cause irregular periods, infertility, and other symptoms, and can be managed with lifestyle changes, medication, and sometimes surgery.
research Case report of Schöpf–Schulz–Passarge syndrome resulting from a missense mutation, p.Arg104Cys, in WNT 10A
A new gene mutation caused a man's rare skin condition, Schöpf-Schulz-Passarge syndrome.
research (673) Seminoma in SRY-Negative 46, XX Testicular Disorder of Sex Development Presenting as Acute Abdomen: An Extremely Rare Case Report
This case report describes an extremely rare instance of seminoma in a 33-year-old phenotypic female with SRY-negative 46,XX testicular disorder of sex development (DSD), presenting uniquely as acute abdomen due to gonadal torsion. The patient exhibited ambiguous genitalia, primary amenorrhea, and male-pattern androgenic alopecia. Emergency surgery revealed a seminoma in the right gonad, confirmed by pathology and chromosomal analysis showing a 46,XX karyotype without SRY or Y-chromosome sequences. This case underscores the importance of considering DSD in adults with atypical genitalia and primary amenorrhea, necessitating comprehensive karyotype and pathological evaluations. A multidisciplinary approach is essential for managing such rare presentations to address oncologic, endocrine, and psychological needs effectively.
research Leptomeningeal angiomatosis accompanied by hair follicle nevus
A baby had a rare condition with abnormal blood vessels in the brain and unusual skin and hair growth, possibly a new syndrome.
research Diffuse Gastrointestinal Polyposis With Skin, Hair, and Nail Changes
A man with Cronkhite-Canada syndrome improved significantly with immunosuppressive therapy.
research Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family
A new mutation in the DCAF17 gene was found to cause Woodhouse-Sakati syndrome in a large family.
research Adult-onset Satoyoshi syndrome in a young male
A rare autoimmune condition, Satoyoshi syndrome, can start in adults and improve with immunosuppressive treatment.
research MON-LB044 Bilateral Ovarian Hyperthecosis: A Benign and Unusual Cause of Postmenopausal Hirsutism
Bilateral ovarian hyperthecosis is a rare but treatable cause of increased facial hair in postmenopausal women.
research Metabolic syndrome in Greek women with polycystic ovary syndrome: prevalence, characteristics and associations with body mass index. A prospective controlled study
Greek women with PCOS have a higher risk of metabolic syndrome and are more likely to be overweight compared to healthy controls.
research Polycystic ovary syndrome (PCOS), an inflammatory, systemic, lifestyle endocrinopathy
PCOS is a complex condition in women that can lead to health issues, and lifestyle changes are the best management approach.
research Hirsutism as the initial presentation of malignant ovarian Leydig cell tumor: A case report
A woman's male-pattern facial hair growth was caused by a rare malignant ovarian tumor that was difficult to diagnose and treat.
research Hormone-active ovarian steroid cell tumor in a 2-year-old girl
A rare ovarian tumor in a 2-year-old girl was successfully removed, normalizing her hormone levels.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
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 Multimodal Recruitment for an Internet-Based Pilot Study of Ovulation and Menstruation (OM) Health
The study successfully gathered a diverse group of 438 women to understand the prevalence of polycystic ovary syndrome, with most participants recruited online and at community fairs.
research An Unusual Case of Diarrhea, Dysgeusia, and Grainy and Nodular Mucosa
A 78-year-old man with Cronkhite-Canada syndrome improved significantly after treatment and remains symptom-free.
research Polycystic ovary syndrome in adolescents
Early diagnosis and treatment are key to managing health risks in teens with PCOS.
research Reticular Erythematous Mucinosis Syndrome
Reticular erythematous mucinosis syndrome can occur with minimal mucin deposition.