Symptoma

46,XX Ovarian Dysgenesis-Short Stature Syndrome

Ovarian Dysgenesis 4

Sizemore Lippincott Williams & Wilkins, 2012 - 412 من الصفحات This pocket-sized quick-reference handbook presents evidence-based recommendations for diagnosis and treatment of endocrine disorders. [books.google.com]

When an ovotestis is present, one third of the patients exhibit bilateral ovotestes. A testicle, when present, is more likely to exist on the right (57.4%), and an ovary, when present, is more common on the left (62%). [emedicine.medscape.com]

[…] since no / minimal anti-Müllerian hormone is produced Usually bilateral fallopian tubes are present, occasionally vas deferens Females may exhibit clitoromegaly; no breast development except with tumors Phenotypic males may have short stature, 90 degree [pathologyoutlines.com]

Clinical Presentations Clinical presentation can be variable and subtle especially for girls with the mosaic form of Turner syndrome. [learn.pediatrics.ubc.ca]

  • Physician

    A decade of experience as a teacher and physician in the field of endo crinologyhas impressed on me that the process of "simplification" rests on four basic principles: an understanding of endocrine concepts, the application of these concepts to the understanding [books.google.com]

    University of Connecticut School of Medicine, Hartford, Connecticut Am Fam Physician. 2006 Apr 15;73(8):1374-1382. Patient information: See related handout on amenorrhea, written by the authors of this article. [aafp.org]

    Underwood (1992), and Turner syndrome: A guide for physicians, by R.G. Rosenfeld (1992). The Turner Syndrome Society also has videotapes of their annual conferences available for a fee. [nejm.org]

    Am Fam Physician 2006;73:1374-82. 5. Narayanan VK, Tolmie J, Donaldson M. 46, XX pure gonadal dysgenesis with tall stature due to an Xq21. 2 deletion. 2013;33:52. 6. Pertusa S, Palacios A. [advbiores.net]

    At this point it is usually possible for a physician to make a diagnosis of XX gonadal dysgenesis. [en.wikipedia.org]

  • Falling

    […] concepts, the application of these concepts to the understanding of diseases, the transference of knowl edge to clinical situations, and the integration of the patient with the labo ratory, the ultimate testing ground where clinical diagnoses stand or fall [books.google.com]

    Subcutaneous growth hormone should be administered when a girl with Turner syndrome falls below the 5 th percentile for age. This often occurs between 2 and 5 years of age. [learn.pediatrics.ubc.ca]

    Blood pressure falls as the ACTH-stimulated mineralocorticoid levels fall. [pediatricurologybook.com]

  • Anemia

    Stay current on the developments and research surrounding neonatal anemia from the entirely new chapter on Blood and Hematopoietic System highlights. [books.google.com]

    Index Terms: Fanconi anemia,Gonadal dysgenesis,Kidney ... malformations,Wilms tumor,XY female Decker J P, Lerner H J, Schwartz I: Breast carcinoma in a 46,XX true hermaphrodite. [ncbi.nlm.nih.gov]

  • Thyroid Nodule

    MORPHOLOGY OF THE PITUITARY 19 THE OPTIC CHIASM IN ENDOCRINOLOGIC 204 PARANEOPLASTIC ENDOCRINE 223 SEX HORMONES AND HUMAN 219 APPROACH TO THE PATIENT WITH 37 ADVERSE EFFECTS OF IODIDE 360 MORPHOLOGY OF THE THYROID 38 NONTOXIC GOITER 366 SYNTHESIS AND 39 THE THYROID [books.google.com]

  • Goiter

    MORPHOLOGY OF THE PITUITARY 19 THE OPTIC CHIASM IN ENDOCRINOLOGIC 204 PARANEOPLASTIC ENDOCRINE 223 SEX HORMONES AND HUMAN 219 APPROACH TO THE PATIENT WITH 37 ADVERSE EFFECTS OF IODIDE 360 MORPHOLOGY OF THE THYROID 38 NONTOXIC GOITER 366 SYNTHESIS AND [books.google.com]

  • Primary Amenorrhea

    UniProtKB/Swiss-Prot : 76 Ovarian dysgenesis 4: A form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads [malacards.org]

    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]

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

    Table 4 3, 6, 15 includes the differential diagnosis of primary amenorrhea. [aafp.org]

    It is the second most common cause of primary amenorrhea. [ijem.in]

  • Sexual Dysfunction

    Psychologic support Women undergoing POI may experience significant psychologic disturbances. 34 Some will experience a range of emotions, and providers should offer support regarding infertility, altered self-image, and sexual dysfunction. 35 Patients [dovepress.com]

    Long-term outcome studies on women with CAH 11 have shown that rates of sexual dysfunction - avoidance of sexual relations, painful intercourse, and inability to experience an orgasm - are high and rates of fertility are low. [pediatricurologybook.com]

Chromosome Karyotyping and serum gonadotropin determination are indicated in the workup of suspected patients. Cardiac and renal evaluation is indicated if the diagnosis of Turner's Syndrome is confirmed. [magicfoundation.org]

  • Dyslipidemia

    […] included are summaries of recent guidelines from the Endocrine Society and the American Academy of Clinical Endocrinology for prevention and management of many endocrine disorders including diabetes, growth hormone deficiency, dysmetabolic syndrome, dyslipidemia [books.google.com]

    Girls with Turner syndrome have an increased risk of type 2 diabetes mellitus, obesity, dyslipidemia, and hypertension. g) Assess for ocular abnormalities Routine ophthalmologic evaluation is indicated. [learn.pediatrics.ubc.ca]

  • Abnormal Thyroid Function Test

    THYROID FUNCTION TEST 47 THYROID DISORDERS OF INFANCY 462 P A RT IV CALCIUM AND BONE METABOLISM 473 MORPHOLOGY OF THE PARATHYROID 51 PARATHYROID HORMONE 497 PHYSIOLOGY OF CALCIUM 52 PARATHYROID HORMONERELATED 512 CLINICAL APPLICATION OF BONE MINERAL [books.google.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]

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]

Fig. 14.9 Ultrasound of a large ovarian cyst Management and Prognosis Since most of FOC follow a benign course, they have an excellent prognosis especially if the cyst is isolated, unilateral, and unilocular. [abdominalkey.com]

A 45,X fetus identified prenatally and surviving to birth has a prognosis similar to that of a child in whom Turner's syndrome is diagnosed postnatally. [allosomes.weebly.com]

In some older patients ( 9 years) with very poor prognosis of final height, the addition of a low dose of oxandrolone (non-aromatisable anabolic steroid) should be considered.4 The addition of Ox to GH treatment may increase adult height by even more [touchendocrinology.com]

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

Congenital adrenal hyperplasia Androgen insensitivity syndrome Etiology : X-linked recessive mutation of the gene locus encoding the androgen receptor varying degrees of end-organ insensitivity to androgens Karyotype : 46,XY Clinical features Complete [amboss.com]

If the patient has normal pubertal development and a uterus, the most common etiology is congenital outflow tract obstruction with a transverse vaginal septum or imperforate hymen. [aafp.org]

[…] and can be identified as a testis or ovary (usually is a testis) and the other gonad is a streak Streak testis: streak tissue identified at periphery of differentiated testis Streak gonad: ovarian type stroma without differentiated gonadal structures Etiology [pathologyoutlines.com]

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]

[…] during embryogenesis - Rare endocrine disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare infertility - Rare urogenital disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological [csbg.cnb.csic.es]

[…] abnormality syndrome in females System(s) affected: cardiovascular; reproductive; endocrine/metabolic; musculoskeletal; nervous; renal/urologic Synonym(s): Ullrich-Turner syndrome; Bonnevie-Ullrich syndrome; monosomy X; sexual infantilism; gonadal dysgenesis Epidemiology [unboundmedicine.com]

The epidemiology of polycystic ovary syndrome. Prevalence and associated disease risks. Endocrinol Metab Clin North Am. 1999;28:247–63. 23. Chang RJ, Katz SE. Diagnosis of polycystic ovarian syndrome. [aafp.org]

[…] insensitivity): high-dose androgen therapy Gonadectomy for intra-abdominal testicles typically performed after puberty ( high risk of malignancy ) Psychological support References: [1] Aromatase deficiency Karyotype : 46 XX or 46 XY (normal sex development) Pathophysiology [amboss.com]

[…] sexual infantilism; gonadal dysgenesis Epidemiology Incidence Occurs in 1/2,500 live female births 1–3% of all conceptuses affected, of whom Predominant sex: female only Prevalence Estimated 50,000 to 75,000 females in the United States Etiology and Pathophysiology [unboundmedicine.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]

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]

The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. International Congenital Lipoid Adrenal Hyperplasia Consortium. [pediatricurologybook.com]

This thoroughly updated edition includes an introduction to risk assessment and screening and results of recent clinical trials and their implications for treatment and prevention. [books.google.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]

Growth hormone therapy should start if the girl does not grow normally, to prevent short stature and social stigmatization later in life. [medicalnewstoday.com]

Growth Hormone Therapy In childhood, growth hormone therapy is standard to prevent short stature as an adult. [abdominalkey.com]