Presentation
On Admission POA Help "Present On Admission" is defined as present at the time the order for inpatient admission occurs — conditions that develop during an outpatient encounter, including emergency department, observation, or outpatient surgery, are [icd10data.com]
A sporadic case of a woman presenting with the combination of pure 46,XX gonadal dysgenesis and congenital nerve deafness is reported. A similar association had been reported as a rare familial occurrence. [ncbi.nlm.nih.gov]
Case presentations In a family consisting 9 siblings of non-consanguineous parents, three sisters (age 22, 17 and 13 years) presented with complaints of amenorrhoea. The 13 years old girl mentioned no secondary characteristics of puberty. [adc.bmj.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]
Cardiovascular
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Tachycardia
[…] abnormalities, not elsewhere classified Q99.0 Chimera 46, XX/46, XY Q99.1 46, XX true hermaphrodite Q99.2 Fragile X chromosome Q99.8 Other specified chromosome abnormalities Q99.9 Chromosomal abnormality, unspecified R00 Abnormalities of heart beat R00.0 Tachycardia [icd10data.com]
Musculoskeletal
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Normal Stature
Both were of normal stature and lacking of somatic stigmata. Both patients had normal 46,XX karyotype on peripheral blood. Streak gonads were seen in both patients and a rather scanty number of primordial follicles was found in one patient. [ncbi.nlm.nih.gov]
These phenotypic females are characterized by a normal stature, sexual infantilism, bilateral streak gonads, amenorrhea, elevated plasma LUTEINIZING HORMONE and FSH concentration. [profiles.umassmed.edu]
Workup
Outlines • Normal sex development and Embryology • Definition • Classification • Disorders • Workup 4. Hormones 5. [slideshare.net]
Hormonal workup for congenital adrenal hyperplasia was negative (17-OHP: 0.66 ng/mL, ACTH: 57.9 pg/mL, Testosterone: 0.83 pg/mL) and karyotype was normal female (46XX). MRI of pelvis was suggestive of hypoplastic uterus, absent ovaries. [casereports.in]
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]
Categories: 123 September 17, 2017 46, XX Gonadal Dysgenesis Epibulbar Dermoid – Definition, Causes, Symptoms, Diagnosis, Treatment, Home Remedies, and Prevention New York (USA), September 17, 2017 Definition, Diagnosis, and Pathophysiology of 46, XX [theteamwork.com]
The team will talk about treatment options with the family. They will present the pros and cons of medical and surgical treatment options. Girls with MGD may need estrogen replacement at puberty. [cincinnatichildrens.org]
Prognosis
The absence of a 45,X lineage is of importance for the management and prognosis. Statistics Summary Epidemiology The prevalence is unknown. Androgen replacement, including testosterone injections, is given to patients with male social sex. [wwwowww.me]
Pathophysiology of 46, XX Gonadal Dysgenesis Epibulbar Dermoid Causes, Evaluation, and Medical Assessment of 46, XX Gonadal Dysgenesis Epibulbar Dermoid The Most Common Signs and Symptoms of 46, XX Gonadal Dysgenesis Epibulbar Dermoid Complications, Prevalence, Prognosis [theteamwork.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]
Etiology
Pure gonadal dysgenesis with 46,XX genotype is a rare abnormality with unknown etiology. [ncbi.nlm.nih.gov]
Etiology Although the etiology is not completely understood, 46,XY CGD results from failure of testicular development due to disruption of the underlying genetic pathways and several genes have been implicated: There was a right inguinal hernia containing [wwwowww.me]
Etiology Ovarian dysgenesis results from genetic defects of ovarian development. [orpha.net]
Epidemiology
[…] 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]
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]
Pathophysiology
Categories: 123 September 17, 2017 46, XX Gonadal Dysgenesis Epibulbar Dermoid – Definition, Causes, Symptoms, Diagnosis, Treatment, Home Remedies, and Prevention New York (USA), September 17, 2017 Definition, Diagnosis, and Pathophysiology of 46, XX [theteamwork.com]
[…] 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]
[…] and classification of disorders of sex development To make a diagnosis, it is essential not only to understand normal development but also to understand the different pathophysiological mechanisms responsible for DSDs. [patient.info]
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]
Prevention
Categories: 123 September 17, 2017 46, XX Gonadal Dysgenesis Epibulbar Dermoid – Definition, Causes, Symptoms, Diagnosis, Treatment, Home Remedies, and Prevention New York (USA), September 17, 2017 Definition, Diagnosis, and Pathophysiology of 46, XX [theteamwork.com]
These processes cause a fetus to develop male gonads (testes) and prevent the development of female reproductive structures ( uterus and fallopian tubes ). [ghr.nlm.nih.gov]
Estrogen and progestin also prevent osteoporosis, which will occur if ovarian deficiency is not treated. There are multiple variants of Turner syndrome. [britannica.com]
This is done to prevent future gonadal cancer. Last Updated 06/2017 The Disorders of Sex Development Center at Cincinnati Children’s combines specialized treatment and compassionate care at one of the top pediatric hospitals in the nation. [cincinnatichildrens.org]
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]