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Female Infertility due to Gonadal Dysgenesis

Rare Female Infertility due to Gonadotropic Axis Disorder of Genetic Origin


Presentation

  • Presents the work of many new contributors for fresh perspectives on the current state of pediatric endocrinology. Provides new tables of normal values and growth charts for monitoring your patients progress.[books.google.com]
  • 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]
Anemia
  • Diseases such as nervous anorexia, diabetes, pernicious anemia, lupus, etc. Familiar history. Herpes zoster or cytomegalovirus infections.[invitra.com]
  • Chronic illnesses, such as anemia, hypertension, and liver and kidney diseases, affect estrogen concentrations.[clinicaladvisor.com]
  • Diabetes mellitus, pernicious anemia, myasthenia gravis, rheumatoid arthritis, systemic lupus erythematosus, and dry eye syndrome also have been associated with primary ovarian insufficiency, and testing should be based on symptomatology.[acog.org]
Pelvic Mass
  • 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]
Salpingitis
  • 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. tubal occlusion, salpingitis[radiopaedia.org]
  • Inflammatory tubal lesion or a relativlely rare condition known as Xanthogranulomatous salpingitis Dyspareunia or vaginal pain after intercourse associated with one or many of medical conditions listed on this page.[australiannaturalfertility.com.au]
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]

Workup

Chlamydia
  • Turner syndrome) and corpus luteum disorder Fallopian tubes diseases: mainly contributing to their occlusion, for instance endometriosis, pelvic inflammatory disease (caused by Chlamydia trachomatis), peritoneal adhesions in the small pelvis Uterine diseases[ivita.eu]

Treatment

  • 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]
  • […] menopause that focuses on the treatment of menopausal symptoms.[acog.org]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]

Prognosis

  • 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]
  • Prognosis With appropriate management, the risk of malignancy is low and the psychological 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]
  • ., 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]

Etiology

  • Etiology Ovarian dysgenesis results from genetic defects of ovarian development.[orpha.net]
  • 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: SRY (gene deletion of or loss-of-function[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]
  • (Müllerian agenesis) Introduction Absence of menarche by the age of 15 years with normal secondary sexual characteristics and normal growth or 13 years with the absence of secondary sexual characteristics Etiology most cases are due to genetic causes[medbullets.com]

Epidemiology

  • 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]
  • Summary Epidemiology The prevalence is unknown. Clinical description Patients present during adolescence or early adulthood with normal female external genitalia but lack pubertal development although adrenarche is normal.[orpha.net]
Sex distribution
Age distribution

Pathophysiology

  • […] 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]

Prevention

  • 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]

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