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10 Possible Causes for Absent or Hypoplastic Uterus, Infantile Uterus on Ultrasound, Ovaries Small to Normal (Ultrasound), Primary Amenorrhea

Did you mean: Absent or Hypoplastic Uterus, Infantile Uterus on Ultrasound, Ovaries Small to Normal (Ultrasound, Primary Amenorrhea

  • Uterine Hypoplasia

    An important characteristic present in both sisters was Müllerian duct hypoplasia manifested as hypoplastic and absent uterus which is not a part of APS.[jpma.org.pk] It is only possible to determine the infantile uterus with the help of ultrasound. Also this study helps to establish the degree of development of pathology.[brulanta.com] Ultrasound examination showed normally located bilateral kidneys with abnormally small pelvi-calyceal system with disproportionate thick renal parenchyma.[ijri.org] Symptoms & Types Symptoms may include: Failure to start having periods at puberty ( primary amenorrhea ) Abdominal pain A small or no vaginal opening Infertility Diagnosis[texaschildrens.org]

  • Gonadal Dysgenesis

    The presence of a hypoplastic uterus implies a deficiency of anti Mullerian hormone in utero (absent functional testicular tissue).[omicsonline.org] On pelvic ultrasound examination, the uterus appeared infantile and the ovaries were not visualized.[ncbi.nlm.nih.gov] OBJECTIVE: To determine the genetic cause of primary amenorrhea in a 46,XY adolescent girl. DESIGN: Case report.[ncbi.nlm.nih.gov] Patients with pure gonadal dysgenesis/agenesis are often short in stature with primary or secondary amenorrhea.[clinicaladvisor.com]

    Missing: Ovaries Small to Normal (Ultrasound)
  • Gonadoblastoma

    Pelvic ultrasonography and magnetic resonance imaging showed a hypoplastic uterus and absent ovaries. Chromosome analysis revealed 46.XY karyotype.[turkjem.org] The B-mode ultrasound showed an infantile uterus, the endometrium appeared as a thin echogenic line, and the masses in the adnexa were non-homogeneous measuring 45 15 mm ([spandidos-publications.com] This patient presented with primary amenorrhea.[ncbi.nlm.nih.gov] At the age of 17 years, the patient presented primary amenorrhea and was referred to our department.[ncbi.nlm.nih.gov]

    Missing: Ovaries Small to Normal (Ultrasound)
  • 46,XX Ovarian Dysgenesis-Short Stature Syndrome

    […] or hypoplastic uterus and upper two third of the vagina in phenotypically and karyotypically normal female with incidence of approximately 1 in 5,000 newborn girls. [2] The[ijem.in] Ultrasound would show a normal uterus but the ovaries would be too small to see – in fact, they would be streaks with few if any germ cells.[pediatricurologybook.com] UniProtKB/Swiss-Prot : 75 Ovarian dysgenesis 4: A disorder characterized by lack of spontaneous pubertal development, primary amenorrhea, uterine hypoplasia, and hypergonadotropic[malacards.org] Females with a 45,XO karyotype characteristically have short stature, primary amenorrhea, streak gonads, and sexual infantilism.[library.med.utah.edu]

    Missing: Infantile Uterus on Ultrasound
  • Leydig Cell Hypoplasia

    She had no coital problems, and speculum and vaginal examination revealed a small nulliparous healthy cervix and a small retroverted uterus, which appeared as infantile on[cags.org.ae] Pelvic ultrasound shows a small or normal uterus and normal or enlarged ovaries with cysts.[diseaseinfosearch.org] One patient was the offspring of consanguineous parents and 2 siblings presented as women with a lack of breast development and primary amenorrhea.[ncbi.nlm.nih.gov] Case: Thirty six years old patient, referred for evaluation of primary amenorrhea.[endocrine-abstracts.org]

    Missing: Absent or Hypoplastic Uterus
  • Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome

    An important characteristic present in both sisters was Müllerian duct hypoplasia manifested as hypoplastic and absent uterus which is not a part of APS.[jpma.org.pk] Both sisters referred for investigation of primary amenorrhea.[cags.org.ae] Primary amenorrhea results from damage to or absence of the uterus, while secondary amenorrhea results from hormonal dysfunction or imbalance at the hypothalamic, pituitary[healthcare.siemens.com] Pelvic ultrasound revealed absent uterus in the elder sister and under-developed infantile uterus in the younger sister.[jpma.org.pk]

    Missing: Ovaries Small to Normal (Ultrasound)
  • Hypogonadotropic Hypogonadism - Retinitis pigmentosa Syndrome

    An important characteristic present in both sisters was Müllerian duct hypoplasia manifested as hypoplastic and absent uterus which is not a part of APS.[jpma.org.pk] amenorrhea and lack of secondary sexual development) and retinitis pigmentosa (see this term).[ebi.ac.uk] amenorrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0000786 6 delayed puberty 59 32 hallmark (90%) Very frequent (99-80%) HP:0000823 7 osteoporosis 59 32 hallmark ([malacards.org] Pelvic ultrasound revealed absent uterus in the elder sister and under-developed infantile uterus in the younger sister.[jpma.org.pk]

    Missing: Ovaries Small to Normal (Ultrasound)
  • Hypogonadotropic Hypogonadism 22

    An important characteristic present in both sisters was Müllerian duct hypoplasia manifested as hypoplastic and absent uterus which is not a part of APS.[jpma.org.pk] Complete congenital hypogonadotropic hypogonadism in a 22-year-old woman referred for primary amenorrhea.[em-consulte.com] Affected females usually present with primary amenorrhea and do not have a completed secondary sexual development, such as having little or no breast development. 3,4 KS and[hormones.gr] Pelvic ultrasound revealed absent uterus in the elder sister and under-developed infantile uterus in the younger sister.[jpma.org.pk]

    Missing: Ovaries Small to Normal (Ultrasound)
  • Deafness - Hypogonadism Syndrome

    An important characteristic present in both sisters was Müllerian duct hypoplasia manifested as hypoplastic and absent uterus which is not a part of APS.[jpma.org.pk] Pelvic ultrasound revealed absent uterus in the elder sister and under-developed infantile uterus in the younger sister.[jpma.org.pk] The females presented with primary amenorrhea. Both had partial alopecia especially on the temporo-parietal regions of the cranium.[jpma.org.pk] Streak or absent ovaries with malformed uterus, and hypoplastic fallopian tubes had been previously reported in different kindred, but, in these families mental retardation[jpma.org.pk]

    Missing: Ovaries Small to Normal (Ultrasound)
  • Precocious Puberty in Males

    Pelvic ultrasound evaluation of mamoplasia gonads and uterus Prepubertal Pubertal GnRH stimulation testPremature thelarche 24.[slideshare.net] Females should also undergo a workup for primary amenorrhea before a diagnosis of CDGP is made.[lecturio.com] Ultrasound examination of ovaries show a few small ( 19. • However, In some girls, breast development is associated with definite evidence of systemic estrogen effects, such[slideshare.net] […] precocious puberty Early breast development Increased height velocity and advanced yes bone age Associated sec.sexual characters , axillary and pubic hair no yes age 2 year Infantile[slideshare.net]

    Missing: Absent or Hypoplastic Uterus

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