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Ovarian Dysgenesis


Presentation

  • 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]
  • Individuals harboring POLG mutations exhibit fairly heterogeneous clinical presentations leading to increasing difficulties in classifying these patients into defined clinical phenotypes.[ncbi.nlm.nih.gov]
  • An 18-year-old female who presented with primary amenorrhoea had hypergonadotropic hypogonadism and streak ovaries with hypoplastic uterus. Karyotype analysis revealed a balanced autosomal translocation involving chromosomes 1 and 11.[ncbi.nlm.nih.gov]
  • In the present report we describe a girl with mental retardation, Dandy-Walker malformation, craniofacial anomalies, cardiac defect, and ovarian dysgenesis associated with an interstitial deletion of chromosome 2.[ncbi.nlm.nih.gov]
  • 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]
Muscle 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]
Apraxia
  • Her further course was marked by progressive mutism, apraxia and seizures. Her sister had died of the same disease after a much more rapidly progressing course. These sisters had primary infertility with pathologic evidence of streak ovaries.[ncbi.nlm.nih.gov]
Neurologic Manifestation
  • Abstract Perrault syndrome is a recessive disorder characterized by ovarian dysgenesis in females, sensorineural deafness in both males and females, and in some patients, neurological manifestations.[ncbi.nlm.nih.gov]
Dysarthria
  • […] evaluations revealed 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[pediatricneurologybriefs.com]
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]
  • 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]
  • Two sisters were admitted separately at different times (ages 15 and 12 years, respectively) to our unit because of amenorrhea, lack of secondary sex characteristics, and short stature. No evidence of other congenital anomalies was found.[ncbi.nlm.nih.gov]
  • A healthy non-dysmorphic 23 year-old phenotypic female with primary amenorrhea and infertility presented for reproductive endocrinology evaluation.[ncbi.nlm.nih.gov]
  • XX female gonadal dysgenesis (XX-GD) is a rare, genetically heterogeneous disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads.[ncbi.nlm.nih.gov]
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]
  • A healthy non-dysmorphic 23 year-old phenotypic female with primary amenorrhea and infertility presented for reproductive endocrinology evaluation.[ncbi.nlm.nih.gov]
  • XX female gonadal dysgenesis (XX-GD) is a rare, genetically heterogeneous disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads.[ncbi.nlm.nih.gov]
  • Definition An autosomal recessive disease characterized by primary amenorrhea, variable development of secondary sex characteristics, poorly developed streak ovaries, and high serum levels of follicle-stimulating hormone (FSH) and luteinizing hormone[uniprot.org]
  • Balanced X;15 translocation 46, X, t(X;15) (q21;q23) associated with primary amenorrhea. Am J Med Genet 1988; 31:783-786. 5. Leddet-Chevallier I, Reid RA, Carrel RE, Sparkes RS.[jpgmonline.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]

Workup

  • 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]
  • See Workup for more detail. Management Standard treatment for women with ovarian cancer involves aggressive debulking surgery and chemotherapy.[emedicine.medscape.com]
  • Further, no standard approach or guidelines have been established for the diagnostic workup and management of these patients.[ijpeonline.biomedcentral.com]
Karyotype Abnormal
  • The results of this study suggest that the attrition of germ cells in these infants is a result of faulty meiotic pairing and that ovarian dysgenesis is a more frequent finding in children with karyotypic abnormalities that has been realized previously[ncbi.nlm.nih.gov]
Complete Blood Count Normal
  • Relevant laboratory investigations revealed a normal complete blood count, normal prolactin level (7 ng/ml; normal: 3-25 ng/ml), high follicle-stimulating hormone level ( 150 mIU/ml; normal: 10-15 mIU/ml), and a high luteinising hormone level (90 mIU[jpgmonline.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]
  • An FNA or diagnostic paracentesis should be performed in patients with diffuse carcinomatosis or ascites without an obvious ovarian mass. See Workup for more detail.[emedicine.medscape.com]
Right Bundle Branch Block
  • Right bundle branch block and mental retardation may possibly be additional, less common pleiotrophic manifestations.[ncbi.nlm.nih.gov]

Treatment

  • 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]
  • Relative luciferase activity was measured with the Dual-Luciferase Reporter Assay System (Promega), with and without β-estradiol treatment.[ncbi.nlm.nih.gov]

Prognosis

  • […] 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 With appropriate management, the risk of malignancy is low and the psychological 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]

Etiology

  • The possible etiology of ovarian dysgenesis is discussed in relation to a variety of clinical and experimental associations.[ncbi.nlm.nih.gov]
  • 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]
  • Simpson JL: Disorders of Sexual Differentiation: Etiology and Clinical Delineation . New York: Academic, 1976 Google Scholar 2. Simpson JL: Gonadal dysgenesis and sex chromosomal abnormalities.[link.springer.com]
  • 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]

Epidemiology

  • 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]
  • Summary Epidemiology The prevalence is unknown. Clinical description Patients present during adolescence or early adulthood with normal female external genitalia but lack pubertal development although adrenarche is normal.[orpha.net]
  • (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]
  • View Article PubMed Google Scholar Dieckmann KP, Pichlmeier U: Clinical epidemiology of testicular germ cell tumors. World J Urol. 2004, 22: 2-14. 10.1007/s00345-004-0398-8.[ijpeonline.biomedcentral.com]
Sex distribution
Age distribution

Pathophysiology

  • 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]
  • 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]
  • Currently, the basic pathophysiology of the lack of androgen effect on the genitalia is understood more fully. Some patients are receptor-negative; their cytosol receptors cannot bind DHT.[emedicine.medscape.com]

Prevention

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

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