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120 Possible Causes for Absent or Hypoplastic Uterus, Infantile Uterus on Ultrasound, Normal Female Secondary Sexual Characteristics

  • Mayer Rokitansky Kuster Hauser Syndrome

    The case presented with primary amenorrhea and primary infertility, despite development of normal female secondary sexual characteristics.[ncbi.nlm.nih.gov] […] or hypoplastic uterus, and normal or hypoplastic fallopian tubes.[ncbi.nlm.nih.gov] Case: Young female was referred with primary amenorrhoea. On assessment she had normal secondary female sexual characteristics. There was no significant family history.[endocrine-abstracts.org]

    Missing: Infantile Uterus on Ultrasound
  • Uterine Hypoplasia

    Patients with MRKH syndrome have a 46, XX karyotype and normal secondary sexual characteristics.[ijri.org] 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]

  • Gonadal Dysgenesis

    Patients with gonadal dysgenesis are hypoestrogenic, possess infantile secondary sexual characteristics, and are sterile. They may present with primary amenorrhoea.[gpnotebook.co.uk] 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]

  • 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]

    Missing: Normal Female Secondary Sexual Characteristics
  • 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] Pelvic ultrasound revealed absent uterus in the elder sister and under-developed infantile uterus in the younger sister.[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: Normal Female Secondary Sexual Characteristics
  • Isolated Partial Vaginal Agenesis

    Case: Young female was referred with primary amenorrhoea. On assessment she had normal secondary female sexual characteristics. There was no significant family history.[endocrine-abstracts.org] MRI pelvis showed absent uterus/cervix with severely hypoplastic vagina, confirming Mullerian hypoplasia. Cytogenetics showed 46XX. Her renal ultrasound was normal.[endocrine-abstracts.org]

    Missing: Infantile Uterus on Ultrasound
  • 46,XX Gonadal Dysgenesis

    In this study, we reported three siblings with pure gonadal dysgenesis with and without normal secondary sexual characteristics.[advbiores.net] […] 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] MRI of pelvis was suggestive of hypoplastic uterus, absent ovaries. Her MRI brain revealed marked cerebellar atrophy and FISH for SRY gene was negative.[casereports.in]

    Missing: Infantile Uterus on Ultrasound
  • Ovarian Dysgenesis

    In this study, we reported three siblings with pure gonadal dysgenesis with and without normal secondary sexual characteristics.[advbiores.net] The presence of a hypoplastic uterus implies a deficiency of anti Mullerian hormone in utero (absent functional testicular tissue).[omicsonline.org] These hormones are necessary for the onset of puberty and the proper development of secondary sexual characteristics.[rarediseases.org]

    Missing: Infantile Uterus on Ultrasound
  • 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] Pelvic ultrasound revealed absent uterus in the elder sister and under-developed infantile uterus in the younger sister.[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: Normal Female Secondary Sexual Characteristics
  • 46,XX Ovarian Dysgenesis-Short Stature Syndrome

    In this study, we reported three siblings with pure gonadal dysgenesis with and without normal secondary sexual characteristics.[advbiores.net] […] 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] Individuals appear to be normal females but do not menstruate and do not develop secondary sexual characteristics at puberty.[78stepshealth.us]

    Missing: Infantile Uterus on Ultrasound