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]

• Developmental Disorder

  Neoplasms and pathology of sexual developmental disorders (intersex). Pathology 2007;39:147-63. Zielinska D, Zajaczek S, Rzepka-Gorska I. Tumors of dysgenetic gonads in Swyer syndrome. J Pediatr Surg 2007;42:1721–4. [jfrh.tums.ac.ir]

  […] 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 Reproductive system developmental [pathologyoutlines.com]

  Natural History Turner syndrome is a developmental disorder and is caused by the absence or structural abnormality of a sex chromosome, typically an X chromosome. [oncofertility.northwestern.edu]

  Gonadal dysgenesis is classified as any congenital developmental disorder of the reproductive system [1] in the male or female. [en.wikipedia.org]

• Underweight

  Anorexia nervosa or being underweight by 20% of BMI. [australiannaturalfertility.com.au]

  Being underweight with a BMI Alternative therapies: where conventional medicine offers no help, patients are often tempted by alternative therapies. [patient.info]

• Pallor

  Hallmark symptoms include fatigue and pallor (pale skin). * Vitamin A deficiency * Vitamin B deficiency Other medical conditions listed in the Disease Database as possible causes of Female infertility as a symptom include: Adrenal cortex tumours: A benign [australiannaturalfertility.com.au]

• Ascites

  Signs of severe disease, indicating a need for hospital management, include: Presence of ascites. Rapid weight gain. Tachycardia. Hypotension. Oliguria. U&E/other metabolic abnormalities. [patient.info]

• Abdominal Pain

  An imperforate hymen or a transverse vaginal septum can cause congenital outflow tract obstruction, which typically is associated with cyclic abdominal pain from blood accumulation in the uterus and vagina. 1 If the outflow tract is patent, the physician [aafp.org]

  Primary amenorrhea can result from an imperforate hymen, which presents as a boggy uterus and cyclic abdominal pain. [emedicine.medscape.com]

  In addition to presenting with primary amenorrhea, all these conditions may occur with symptoms of cyclic or persistent abdominal or pelvic pain and a pelvic mass due to the obstructed outflow tract. [acog.org]

• Hypotension

  Hypotension. Oliguria. U&E/other metabolic abnormalities. Its incidence may be reduced by careful tailoring of the pharmacological agents and embryo implantation techniques used. [patient.info]

• Hirsutism

  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]

  → ↓ serum estrogen and ↑ serum testosterone Clinical features Females ( 46 XX ) Birth : Ambiguous genitalia despite normal internal genital organs Puberty Impaired maturation of secondary sexual characteristics Primary amenorrhea Virilization (e.g., hirsutism [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]

• Osteoporosis

  Eunuchoid growth pattern ; : tall, slim stature with long extremities Gynecomastia, reduced body hair Testicular hypoplasia with a normal sized penis Reduced fertility, frequent azoospermia Osteoporosis frequently observed in adulthood Associations: Mitral [amboss.com]

  Treatment Treatment of POF depends on the symptoms the woman has and the presence of greater health risks, such as osteoporosis or cardiac diseases provoked by low estrogens levels. [invitra.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]

  This can result in a variety of problems, including infertility, irregular or absent menstrual periods, early menopause, and osteoporosis. [endocrineweb.com]

• Fidgeting

  Attention and hyperactivity problems Typically, girls with Turner syndrome will go through a phase in childhood that involves: physical overactivity, such as constant fidgeting and restlessness acting impulsively, such as breaking rules or having no sense [beaconmedicalgroup.nhs.uk]

• Testicular Disease

  gonadal dysgenesis, hypopituitarism, hyperprolactinemia, psychological factors, impotence as well as drugs, alcohol and some medicines (spironolactone, ketoconazole, cimetidine, guanethidine, (anticancer drugs) Testicular diseases: testicular cancer [ivita.eu]

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]

In Yilmaz 2006, a full infertility workup including tubal evaluation was done; in George 2007, only a basic infertility workup was carried out, after which treatment for anovulation was initiated. [cochranelibrary.com]

Further, no standard approach or guidelines have been established for the diagnostic workup and management of these patients. [ijpeonline.biomedcentral.com]

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]

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

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

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