Completely undeveloped streak gonads are present and are associated with an increased risk of abdominal tumours (most commonly dysgerminoma; see this term), which may be the presenting feature in some cases.[orpha.net]
[…] 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]
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]
Symptoms absence of menses There are many causes of primary amenorrhea, and depending on the cause, it may affect clinical presentation e.g., patient with Müllerian agenesis may have an absent uterus on physical exam transverse vaginal septa present[medbullets.com]
[…] structures or in patients presenting at puberty with 46,XY primary amenorrhea.[genedx.com]
For patients who have coarctation of the aorta, cardiac surgery is required treatment.[signssymptoms.org]
Other physical findings associated with classical forms of gonadal dysgenesis include: epicanthal folds, high arched palate, low nuchal hairline, webbed neck, shield chest, coarctation of the aorta, ventricular septal defect, renal anomalies, pigmented[library.med.utah.edu]
[…] of the aorta Aortic dissection and rupture Kidney and ureter malformations ; ( especially horseshoe kidney ; possibly agenesis, rotational anomalies, obstructions) Osteoporosis and pathologic fractures Diagnostics : Hypergonadotropic hypogonadism estrogen[amboss.com]
Associated anomalies may included webbed neck, cubitus valgus, shield chest, short stature, lymphedema, coarctation of the aorta, pigmented nevi, and various renal, skeletal, dermatologic, neoplastic, and autoimmune complications.[icd10data.com]
To identify sSMC it is necessary to proceed to chromosomal analysis by high definition karyotyping and/or FISH.[bredagenetics.com]
No chromosome Y was detected at the fluorescence in situ hybridization (FISH) analysis. Internal genitalia could not be identified on the pelvic ultrasound and pelvic magnetic resonance imaging.[ijem.in]
For example, a specific technique called fluorescent in situ hybridization (FISH) can be used to determine a person’s karyotype. A karyotype is a visual representation of a person’s chromosomal makeup, (i.e., the 46 chromosomes in a cell).[rarediseases.org]
FISH for SRY. Patients with Turner’s syndrome and a 45,X karyotype require FISH for SRY to evaluate for cryptic Y mosaicism [ 32 ]. iii.[ijpeonline.biomedcentral.com]
Investigation showed bilateral gonadoblastoma as the cause of the peripheral precociouspuberty.[analesdepediatria.org]
., precociouspuberty or virilization) suggests that a staged surgical procedure is necessary [ 19 ]. Finally, chromosomal analysis reveals a 46,XY karyotype.[ijpeonline.biomedcentral.com]
mass. 11 Presentation with signs of precocious puberty seems to be related to autonomous sex steroid secretion, which occurs in 15% of cases, being conditioned by tumour components derived from sex cord cells.[analesdepediatria.org]
Clinical history A 21 years old patient with a history of primary amenorrhea, 46, XY karyotype, was admitted to the hospital complainging of a low abdominalmass. The patient is 164 cm tall. She has breast development (tanner IV).[link.springer.com]
Another cause of hirsutism is the rare late-onset 21-hydroxylase deficiency, which is caused by mutations in the 21-hydroxylase gene that result in excessive 17-hydroxyprogesterone levels.[emedicine.medscape.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]
In females with the non-classic form of 21-hydroxylase deficiency, in whom genitalia are normal at birth, postnatal clinical signs may include hirsutism, frontal baldness, delayed menarche, menstrual irregularities, and infertility.[bredagenetics.com]
Modest weight loss can lower androgen levels, improve hirsutism, normalize menses, and decrease insulin resistance.[aafp.org]
Female patients exhibit normal pubertal development and menarche, followed by oligomenorrhea and anovulatory secondary amenorrhea with consequent infertility.[bredagenetics.com]
PCOS may also account for many problems involved in menstrual disorders, including lack of menstruation (amenorrhea) or infrequent menses (oligomenorrhea).[australiannaturalfertility.com.au]
Mild hypothyroidism is more often associated with hypermenorrhea or oligomenorrhea than with amenorrhea.[aafp.org]
Abnormal bleeding patterns also may include oligomenorrhea (bleeding that occurs less frequently than every 35 days), nonstructural causes of abnormal uterine bleeding (eg, ovulatory dysfunction, iatrogenic, or not yet classified), or polymenorrhea (bleeding[acog.org]
In females with the non-classic form of 21-hydroxylase deficiency, in whom genitalia are normal at birth, postnatal clinical signs may include hirsutism, frontal baldness, delayedmenarche, menstrual irregularities, and infertility.[bredagenetics.com]
These patients also have an unusual cognitivedefect which renders them unable to appreciate the shapes and relationships of objects to each other (space-form blindness).[library.med.utah.edu]
In fact, super ovulation is recommended following the patient's infertility workup but before in initial laparoscopy to avoid the surgery completely.[infertilitytreatmentspecialistcentredelhi.com]
To facilitate prompt and accurate diagnostic workup, obtaining a thorough history and performing a detailed physical examination is essential. [47] In the differential diagnosis of primary or secondary amenorrhea, the most important step in diagnosis[emedicine.medscape.com]
Further, no standard approach or guidelines have been established for the diagnostic workup and management of these patients.[ijpeonline.biomedcentral.com]
The pelvic assessment identified the presence of ovarianmasses 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]
However, those women with a BMI of 30 should be advised to lose weight before starting treatment. Women using CC treatment should be monitored by ultrasound and should not have treatment for more than six months.[patient.info]
Treatment:. After a diagnosis of infertility, the best treatment plan based on the specific requirement is selected. Many times a combination of fertility treatments is necessary to achieve pregnancy.[infertilitytreatmentspecialistcentredelhi.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]
The Inovium Ovarian Rejuvenation Treatment is a PRP-based autologous treatment used in combination with a stimulated IVF sequence and Pre-Implantation Genetic Screening to treat infertility in women experiencing menopause, perimenopause, and premature[clinicaltrials.gov]
Treatment Turner syndrome is a genetic condition with no cure, but treatment may help resolve issues with short stature, sexual development, and learning difficulties.[medicalnewstoday.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]
., vaginal outlet obstruction will require surgical correction Prognosis, Prevention, and Complications Complications infertility Please rate topic. Average 5.0 of 3 Ratings Thank you for rating![medbullets.com]
[…] obstructions) Osteoporosis and pathologic fractures Diagnostics : Hypergonadotropic hypogonadism estrogen, androgens, follicle stimulating hormone, luteinizing hormone Karyotyping confirms the diagnosis Therapy : estrogen and progestogen substitution Prognosis[amboss.com]
Treatments for disorders of the male genital tract and spermatogenesis [ 1 ] Management of abnormal sperm counts Whilst a low sperm count is a poor prognostic feature, and the lower the count the worse the prognosis, it is not totally incompatible with[patient.info]
Regardless of etiology or phenotype, parents’ and patient’s psychosocial concerns should be promptly addressed by qualified mental health professionals.[dsdguidelines.org]
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]
Pathology Etiology Often more than one factor (including male infertility ) is the cause of infertility, some of the common causes are listed below 1-3: age 35 years immunological, e.g. antisperm antibodies Fallopian tube abnormalities (30-40%), e.g.[radiopaedia.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]
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]
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]
[…] 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]
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]
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]