We followed for 18 years a woman with autopsy-proven POLD, who presented with 'frontal' dementia and spasticity. Her further course was marked by progressive mutism, apraxia and seizures. [ncbi.nlm.nih.gov]

• Weakness

  This case report of a young woman with a heterozygous mutation in POLG, presenting with muscle weakness and atrophy at a young age aims to aid clinicians in similar challenging diagnostic situations as well as enhances our understanding of POLG-related [ncbi.nlm.nih.gov]

  […] cognitive impairment in 3 (IQs 52, 60, 77), ataxia at age 10 in one, speech delay in one, febrile seizures in one, neurologic deterioration at ages 6-10, 17, and 24, mild clumsiness, cerebellar and pyramidal signs, optic atrophy, dysarthria, and facial weakness [pediatricneurologybriefs.com]

  Evidence quality: low Strength of recommendation: weak c. [ijpeonline.biomedcentral.com]

  […] uterine leiomyoma子宮筋腫 uterine myoma子宮筋腫 uterus子宮 v vacuum extraction delivery(VE)吸引分娩 vagina膣 vaginitis膣炎 variable deceleration変動性一過性徐脈 vulva外陰 vulvar cancer外陰癌 vulvar intraepithelialneoplasia外陰上皮内腫瘍 vulvar pruritus外陰掻痒症 vulvitis外陰炎 vulvodynia外陰疼痛 w weak [tokyo-med.ac.jp]

  XY mice transgenic for Dax1 show delayed testis development and sex reversal if the transgene is tested against weak alleles of Sry ( 21 ). [academic.oup.com]

• Fatigue

  Symptoms can vary from one person to another, but can include fatigue, sluggishness, muscle aches, constipation, a hoarse voice and pale, dry skin. [rarediseases.org]

• Amenorrhea

  Three phenotypic female sisters in a sibship of four sisters and one brother were found to have pure ovarian dysgenesis, which was confirmed by the finding of streak gonads at laparotomy in two of the three sisters who presented with amenorrhea and lack [ncbi.nlm.nih.gov]

  At a Glance Amenorrhea is the absence of menstrual blood flow. [clinicaladvisor.com]

  primary amenorrhea could be diagnosed even in 14 years of age. [advbiores.net]

• Primary Amenorrhea

  We present a case of a 33-year-old woman with Turner syndrome, primary amenorrhea and menopausal hormonal profile in which peritoneal endometriosis (white opacification type) was revealed laparoscopically. [ncbi.nlm.nih.gov]

  Although detection of streak gonads on ovarian biopsy confirms PGD, its utility in patients with primary amenorrhea is questionable. [clinicaladvisor.com]

  Females with a 45,XO karyotype characteristically have short stature, primary amenorrhea, streak gonads, and sexual infantilism. Credits: Adapted with permission from Jaffe R.B. Disorders of Sexual Development. [library.med.utah.edu]

  It is the most common cause of primary amenorrhea. [jhrsonline.org]

• Secondary Amenorrhea

  However, affected individuals present during adolescence or young adulthood with either delayed or absent puberty resulting in primary or sometimes secondary amenorrhea. The internal and external genitalia are normally developed. [orpha.net]

  It is characterized by the presence of primary amenorrhea with or without normal secondary sexual characteristics. [advbiores.net]

  Balanced reciprocal X-4 translocation in a female patient with early secondary amenorrhea. Am J Obstet Gynecol 1977; 129:607-613. 13. DiGeorge AM. Hermaphroditism (Intersexuality). In: Nelson WE, Behrman RE, Kliegman RM, Arvin AM, editors. [jpgmonline.com]

  The work-up for primary amenorrhea begins with a careful history and physical exam to look for anatomical defects, development of secondary sexual characteristics, and/or a personal or family history of delayed puberty, short stature, and/or amenorrhea [clinicaladvisor.com]

• Adnexal Mass

  Management of adnexal masses. Obstet Gynecol. 2007 Jul. 110 (1):201-14. [Medline]. Suh-Burgmann E, Kinney W. Potential harms outweigh benefits of indefinite monitoring of stable adnexal masses. Am J Obstet Gynecol. 2015 Dec. 213 (6):816.e1-4. [emedicine.medscape.com]

See Workup for more detail. Management Standard treatment for women with ovarian cancer involves aggressive debulking surgery and chemotherapy. [emedicine.medscape.com]

Many individuals with a diagnosis of Turner syndrome undergo a complete cardiac workup to assess the structure and function of the heart. This will include an echocardiogram. [rarediseases.org]

Further, no standard approach or guidelines have been established for the diagnostic workup and management of these patients. [ijpeonline.biomedcentral.com]

• Ovarian Mass

  The pelvic assessment identified the presence of ovarian masses which, in conjunction with the high β-HCG level, suggested a tumoural condition as the diagnosis. β-HCG is a glycoprotein hormone, which, as well as being associated with pregnancy, is considered [analesdepediatria.org]

  Patients with more advanced disease may present with ovarian or pelvic mass, ascites, pleural effusion, or abdominal mass or bowel obstruction. [emedicine.medscape.com]

Make the best clinical decisions with an enhanced emphasis on evidence-based practice and expert opinions on treatment strategies. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography. [books.google.com]

The patient was continued on hormone replacement therapy and underwent genetic counselling; the patient subsequently enrolled as a recipient in an anonymous donor oocyte IVF treatment. Translocations involving autosomes and chromosome X are rare. [ncbi.nlm.nih.gov]

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice . [uniprot.org]

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]

[…] gonadal dysgenesis (CGD) / Swyer syndrome mixed gonadal dysgenesis (MGD) pure gonadal dysgenesis (PGD) Associations syndromic associations Turner syndrome ( streak ovaries ) DRASH syndrome other associations Madelung deformity gonadoblastoma Treatment and prognosis [radiopaedia.org]

Prognosis With appropriate management, the physiological and clinical outcome for patients is good. The documents contained in this web site are presented for information purposes only. [orpha.net]

Prognosis in ovarian cancer is closely related to the stage at diagnosis; thus, overall, prognosis for these patients remains poor. (See Presentation and Prognosis.) Standard treatment involves aggressive debulking surgery followed by chemotherapy. [emedicine.medscape.com]

Norris HJ, Taylor HB (1968) Prognosis of granulosa-theca tumors of the ovary. Cancer 21:255–263 PubMed CrossRef Google Scholar [59.] Norris HJ, Zirkin HJ, Benson WL (1976) Immature (malignant) teratoma of the ovary. [springerlink.com]

The possible etiology of ovarian dysgenesis is discussed in relation to a variety of clinical and experimental associations. [ncbi.nlm.nih.gov]

Etiology Ovarian dysgenesis results from genetic defects of ovarian development. [orpha.net]

In all etiologic groups, gonadal failure is the consistent lesion and recent longitudinal radioimmunoassay measurements of gonadotropin levels have shown the biphasic pattern of gonadotropin secretion before attaining the typical castrate level seen in [augusta.pure.elsevier.com]

Burlington, VT 05403 Search for more papers by this author First published: 1 July 1991 Cited by: 8 Abstract Pure gonadal dysgenesis with 46,XX genotype is a rare abnormality with unknown etiology. [doi.org]

Summary Epidemiology Prevalence is unknown but is thought to be less than 1/10,000. Clinical description Patients are born as females without ambiguity. [orpha.net]

Epidemiological studies suggest an incidence of familial POI of 13% to 30%, showing that one-third of idiopathic POI is actually inherited A proper family history will make it possible to identify familial POI. [fertilityroad.com]

(See Epidemiology.) Early disease causes minimal, nonspecific, or no symptoms. Therefore, most cases are diagnosed in an advanced stage. [emedicine.medscape.com]

Beral V (1987) Epidemiology. In: Sharp F, Soutter WP (eds) Ovarian cancer – the way ahead. Royal College of Obstetricians and Gynaecologists, London, p 26 Google Scholar [5.] [springerlink.com]

Miller The pathophysiology and genetics of congenital lipoid adrenal hyperplasia [34.] O. Hiort, P.M. Holterhus, R. Werner, C. Marschke, U. Hoppe, C.J. [apcontinuada.com]

Pathophysiology and clinical assessment of primary amenorrhea. Frontiers in Gynecological Endocrinology. New York: Springer; 2014. p. 3-7. 3. Speroff L, Fritz MA. Clinical gynecologic endocrinology and infertility. [advbiores.net]

Mahmutovic, Alma Mizdrak, Amina Luckin, Zineta Mulaosmanovic, Amela Salihovic, Almedina Alihodzic Int J Med Rev Case Rep. 2022; 6(14): 5-13 » Abstract » PDF» doi: 10.5455/IJMRCR.172-1638393956 Letter to the Editor Potential clinical relevance of the common pathophysiological [mdpub.net]

Pathophysiology Historically, most theories of the pathophysiology of ovarian cancer included the concept that it begins with the dedifferentiation of the cells overlying the ovary. [emedicine.medscape.com]

An appropriate dose and schedule regimen for estrogen and progestin is of utmost importance in the prevention of this complication. [augusta.pure.elsevier.com]

Chomatin negative Barr bodies Low immunoglobulins levels Prognostic factors High risk for gonadoblastoma (30%) if Y chromosome material is present, which may obliterate testicular elements and cause incorrect diagnosis Treatment Excise gonads early to prevent [pathologyoutlines.com]

Estrogen and progestin also prevent osteoporosis, which will occur if ovarian deficiency is not treated. There are multiple variants of Turner syndrome. [britannica.com]

The basic biochemical defect is an enzymatic block that prevents sufficient cortisol production. Biofeedback via the pituitary gland causes the precursor to accumulate above the block. [emedicine.medscape.com]

Transplantation Substance Use and Addiction Surgery Surgical Innovation Surgical Pearls Teachable Moment Technology and Finance The Rational Clinical Examination Tobacco and e-Cigarettes Toxicology Trauma and Injury Treatment Adherence United States Preventive [jamanetwork.com]