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91 Possible Causes for Absent or Hypoplastic Uterus, Hypoplastic Testicle, Infantile Uterus on 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] 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]

  • Hypogonadotropic Hypogonadism 4

    The purpose of the study is to examine how Kallmann syndrome (KS) and idiopathic hypogonadotropic hypogonadism (IHH) affect reproductive hormones. These disorders are caused by a defect in Gonadotropin Releasing Hormone (GnRH) secretion. GnRH is a hormone released by a small gland in the brain called the[…][clinicaltrials.gov]

    Missing: Absent or Hypoplastic Uterus Infantile Uterus on Ultrasound
  • Hypogonadotropic Hypogonadism 8

    Richard Quinton Karger Medical and Scientific Publishers , 2010 - 174 من الصفحات Over the past decade, the understanding of the processes involved in the regulation of gonadotropin-releasing hormone and its dysfunction has greatly increased. As new regulatory peptides have been identified, the underlying causes of[…][books.google.com]

    Missing: Absent or Hypoplastic Uterus Infantile Uterus on Ultrasound
  • Brandt Syndrome

    Summary Epidemiology The prevalence of AE is unknown. It is more common in the North-West of Tunisia. Clinical description AE usually presents in the first 4-10 weeks of life in infants that are not breast-fed and at around the time of weaning in breast-fed infants, as cow's milk contains more zinc-binding phytates[…][orpha.net]

    Missing: Absent or Hypoplastic Uterus Infantile Uterus on Ultrasound
  • Schwartz-Jampel Syndrome

    The full text of this article hosted at iucr.org is unavailable due to technical difficulties. First published: 26 April 2012 Cited by: 3 Abstract ABSTRACT Schwartz–Jampel syndrome (SJS) is a rare autosomal recessive skeletal dysplasia associated with myotonia. The manifestations of SJS include short stature,[…][doi.org]

    Missing: Absent or Hypoplastic Uterus Infantile Uterus on Ultrasound
  • Mobius Syndrome

    BACKGROUND: Möbius syndrome (MS) can present with unilateral or bilateral facial paralysis. In performing 1-stage bilateral MS facial reanimation, we used bilateral spinal accessory (XI) nerves to innervate 2 free functional muscle transfers (FFMTs). METHODS: Of 12 MS patients, 6 had bilateral facial paralysis. Bilateral[…][ncbi.nlm.nih.gov]

    Missing: Absent or Hypoplastic Uterus Infantile Uterus on Ultrasound
  • Warburg Micro Syndrome 3

    — Not enough data available about incidence and published cases. Panel Name, Specifity and genes Tested/covered Comprehensive Brain Malformation Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University in United States. UBE3A, PTEN, TUBB3, CC2D2A, OTX2, TMEM67, NPHP1,[…][mendelian.co]

    Missing: Absent or Hypoplastic Uterus Infantile Uterus on Ultrasound
  • Woodhouse Sakati Syndrome

    Hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome [also known as Woodhouse-Sakati syndrome (WSS)] is a rare autosomal recessive neuroendocrine and ectodermal disorder. The syndrome was first described by Woodhouse and Sakati in 1983, and 47 patients from 23 families have[…][ncbi.nlm.nih.gov]

    Missing: Absent or Hypoplastic Uterus Infantile Uterus on Ultrasound
  • Chromosome 18p Deletion Syndrome

    Immunoglobulin (Ig) A deficiency has long been recognized in patients with chromosome 18 abnormalities. We present the case of a young girl in whom a chromosome 18p deletion syndrome (46,XX,del[18][p11.1]) was associated not only with IgA deficiency, but also with an inability to make antibody to the unconjugated[…][ncbi.nlm.nih.gov]

    Missing: Absent or Hypoplastic Uterus Infantile Uterus on Ultrasound
  • Renpenning Syndrome 1

    Renpenning syndrome is a disorder that almost exclusively affects males, causing developmental delay, moderate to severe intellectual disability, and distinctive physical features. Individuals with Renpenning syndrome typically have short stature and a small head size ( microcephaly ). Facial features characteristic of[…][ghr.nlm.nih.gov]

    Missing: Absent or Hypoplastic Uterus Infantile Uterus on Ultrasound