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]

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]

[…] 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]

[…] structures or in patients presenting at puberty with 46,XY primary amenorrhea. [genedx.com]

• Delayed Menarche

  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]

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]

• 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]

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]

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]

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]

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]

[…] 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]

[…] karyotyping Pelvic ultrasound is needed to determine the presence of a uterus Differential Diagnosis Pregnancy Contraceptive use Refer to evaluation Treatment Directed at underlying pathology e.g., vaginal outlet obstruction will require surgical correction Prognosis [medbullets.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]

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]

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]

Vaginismus or a spasming of the muscles at the vaginal entrance that prevents penetration. [australiannaturalfertility.com.au]

Estrogen and progestin also prevent osteoporosis, which will occur if ovarian deficiency is not treated. There are multiple variants of Turner syndrome. [britannica.com]

There is no way to prevent Turner syndrome, and the cause of the genetic abnormality is unknown. [healthline.com]