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]
Norman Lavin Lippincott Williams & Wilkins, 2009 - 837 من الصفحات Now in its Fourth Edition, this Spiral Manual presents clinical information and protocols in outline format for evaluation and treatment of most endocrine disorders in children, adolescents[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]
Clinical Presentations Clinical presentation can be variable and subtle especially for girls with the mosaic form of Turner syndrome.[learn.pediatrics.ubc.ca]
[…] 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]
Affiliated tissues include bone, breast and ovary, and related phenotypes are delayed skeletal maturation and shortstature Disease Ontology : 12 A 46 XX gonadal dysgenesis that has material basis in homozygous mutation in the MCM9 gene on chromosome[malacards.org]
Gonadal agenesis and shortstature are the main features in the surviving infants.[icd10data.com]
We recommend that boys with otherwise unexplained shortstature, being short for their families, should be karyotyped routinely as is recommended in short-stature girls.[hormones.gr]
Management of a Child with Turner Syndrome a) Treat shortstature Treating shortstature is important to maximize a girl’s growth potential.[learn.pediatrics.ubc.ca]
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]
131 Pheochromocytomas 160 Neuroblastoma 168 Hormonal Hypertension 184 Primary Hypertension in Children 198 Adrenal Steroid Excess in Childhood 219 Adrenal Insufficiency in Childhood 227 DISORDERS OF THE REPRODUCTIVE SYSTEM 235 Early Precocious and Delayed[books.google.com]
The most important factors in TS are short stature, cardiovascular disorders (cardiac defects and hypertension), otolaryngological problems (hearing loss), delayed or lack of puberty as a symptom of gonadal failure, renal anomalies, obesity and metabolic[touchendocrinology.com]
Hypertension is relatively common in adults with the disorder. They also frequently have autoimmune thyroid disorders (Hashimotos thyroiditis). View image Turner's Syndrome.[library.med.utah.edu]
High blood pressure, or hypertension, is more likely with TS. Other problems Other possible complications include: Diabetes : This is more likely among older women with TS who are overweight, compared with other women of the same age and weight.[medicalnewstoday.com]
Routine blood pressure in all extremities is also important to screen for hypertension. Cardiovascular anomalies should be treated as indicated.[learn.pediatrics.ubc.ca]
Primary hypogonadism, partialalopecia, and mullerian hypoplasia: Report of a third family and review. Am J Med Genet A 2009;149A: 501-4. 3. Zaman SM, Nisar M.[ijem.in]
Updated clinical guidelines for diabetes, lipid disorders, obesity management, osteoporosis, and more, as well as essential treatment updates for the medical management of acromegaly, Cushing's Disease, hypercalcemia, and diabetes mellitus.[books.google.com]
., hirsutism, severe acne ) Both males and females Childhood Tall stature Osteoporosis (e.g., fractures following minimal trauma) Mothers of affected children may experience virilization during pregnancy (may start at 12 weeks' gestation and typically[amboss.com]
[…] prototypic GD is Turner syndrome–45, X0, which occurs in 1:2-7000 births Clinical Short stature, webbed neck, cubitus valgus, micrognathia with high arched palate, epicanthal folds, lymphedema of hands and feet, aortic coarctation, renal malformation, osteoporosis[medical-dictionary.thefreedictionary.com]
Estrogen and progesterone replacement therapy will enable sexual development and reduce the risk of osteoporosis. Blood tests can show how much hormone the patient is producing naturally.[medicalnewstoday.com]
They are at risk for health difficulties such as high blood pressure, kidney problems, diabetes, cataracts, osteoporosis, and thyroid problems. Doctors diagnose Turner syndrome based on symptoms and a genetic test.[icdlist.com]
Campomelic dysplasia 46,XY individuals with mutations in the SOX9 gene may have a skeletaldysplasia, commonly lethal, combined with ambiguous or female genitalia due to gonadal dysgenesis 30.[pediatricurologybook.com]
UniProtKB/Swiss-Prot : 76 Ovarian dysgenesis 4: A form of ovarian dysgenesis, a disorder characterized by lack of spontaneous pubertal development, primaryamenorrhea, uterine hypoplasia, and hypergonadotropic hypogonadism as a result of streak gonads[malacards.org]
Females with a 45,XO karyotype characteristically have short stature, primaryamenorrhea, streak gonads, and sexual infantilism. Credits: Adapted with permission from Jaffe R.B. Disorders of Sexual Development.[library.med.utah.edu]
, primaryamenorrhea could be diagnosed even in 14 years of age.[advbiores.net]
It is the second most common cause of primaryamenorrhea.[ijem.in]
Most common cause of primaryamenorrhea. No barr body. Labs: Decreased estrogen Increased LH Increased FSH[quizlet.com]
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 sexualdysfunction. 35 Patients[dovepress.com]
Long-term outcome studies on women with CAH 11 have shown that rates of sexualdysfunction - 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]
[…] 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]
THYROIDFUNCTIONTEST 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]
Rapidly consult with trusted authorities thanks to new expert-opinion treatment strategies and recommendations. Zero in on the most relevant and useful references with the aid of a more focused, concise bibliography.[books.google.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]
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]
Treatment : How to Treat "gonadal dysgenesis"? Oestrogen supplements are typical treatments during puberty. Some cases require growth hormone replacement. For patients who have coarctation of the aorta, cardiac surgery is required treatment.[signssymptoms.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]
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]
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]
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]
Müllerian agenesis: Etiology, diagnosis, and management. Obstet Gynecol Surv 2000;55:644-9. 9. Sedlmeyer IL, Palmert MR. Delayed puberty: Analysis of a large case series from an academic center. J Clin Endocrinol Metab 2002;87:1613-20. 10.[advbiores.net]
[…] 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]
[…] 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]