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46 Possible Causes for Absent or Hypoplastic Uterus, Primary Amenorrhea

  • Septate Vagina

    (Class I) Rare Both the Müllerian ducts fail to develop absent or hypoplastic uterus, absent cervix , and vaginal atresia Unicornuate uterus (Class II) 10% One of the Müllerian[amboss.com] Menstrual flow can be blocked. [3] and is a cause of primary amenorrhea . The accumulation of menstrual debris behind the septum is termed cryptomenorrhea .[en.wikipedia.org] While Müllerian agenesis , labial fusion, and an imperforate hymen present with primary amenorrhea , intrauterine adhesions present with secondary amenorrhea .[amboss.com]

  • Septate Vagina

    (Class I) Rare Both the Müllerian ducts fail to develop absent or hypoplastic uterus, absent cervix , and vaginal atresia Unicornuate uterus (Class II) 10% One of the Müllerian[amboss.com] Menstrual flow can be blocked. [3] and is a cause of primary amenorrhea . The accumulation of menstrual debris behind the septum is termed cryptomenorrhea .[en.wikipedia.org] While Müllerian agenesis , labial fusion, and an imperforate hymen present with primary amenorrhea , intrauterine adhesions present with secondary amenorrhea .[amboss.com]

  • Uterus Didelphus

    (Class I) Rare Both the Müllerian ducts fail to develop absent or hypoplastic uterus, absent cervix , and vaginal atresia Unicornuate uterus (Class II) 10% One of the Müllerian[amboss.com] At puberty, the child had primary amenorrhea that was found to be due to bilateral atresia of the cervix uteri.[jiaps.com] Anomalies of the uterus Anomalies of Müllerian duct fusion Anomalies of Müllerian duct fusion Types of fusion anomalies Relative frequency Pathophysiology Müllerian agenesis[amboss.com]

  • Mayer Rokitansky Kuster Hauser Syndrome

    […] or hypoplastic uterus, and normal or hypoplastic fallopian tubes.[ncbi.nlm.nih.gov] It is one of the most common causes of primary amenorrhea and affects at least 1 out of 4500 women.[ncbi.nlm.nih.gov] (e) Microphotograph showing rudimentary mullerian lining surrounded by smooth muscle Click here to view MRKH syndrome is characterized by the absent or hypoplastic uterus[jhrsonline.org]

  • Female Gonadal Dysgenesis

    The presence of a hypoplastic uterus implies a deficiency of anti Mullerian hormone in utero (absent functional testicular tissue).[omicsonline.org] Numerous sex-chromosome anomalies have been detected in cases of primary amenorrhea with normal external genitalia.[nejm.org] It is the second most common cause of primary amenorrhea.[ijem.in]

  • Congenital Malformations of Uterus and Cervix

    (Class I) Rare Both the Müllerian ducts fail to develop absent or hypoplastic uterus, absent cervix , and vaginal atresia Unicornuate uterus (Class II) 10% One of the Müllerian[amboss.com] Both conditions often present with primary amenorrhea, shortened vagina, and absent cervix.[acog.org] Symptoms of cervical agenesis include: Failure to start having periods at puberty (primary amenorrhea ) Abdominal pain Cervical duplication may cause no symptoms.[childrens.com]

  • Gonadal Dysgenesis

    The presence of a hypoplastic uterus implies a deficiency of anti Mullerian hormone in utero (absent functional testicular tissue).[omicsonline.org] A 16-year-old adolescent referred for primary amenorrhea. Endocrine and surgical investigation, SRY mutational analysis.[ncbi.nlm.nih.gov] Patients with pure gonadal dysgenesis/agenesis are often short in stature with primary or secondary amenorrhea.[clinicaladvisor.com]

  • Unilateral Renal Agenesis

    absent-hypoplastic uterus absent proximal 2/3 of vagina Chest Ribs Sternum Clavicles And Scapulae: rib anomalies sprengel deformity Neurologic Central Nervous System: cerebellar[malacards.org] A case is presented of a 22 year old unmarried woman who in addition to presenting with primary amenorrhea, complete transverse vaginal septum and cyclic hematuria, also had[hoajonline.com] […] clinical synopsis from OMIM: 57 Head And Neck Mouth: cleft palate cleft lip GenitourinaryInternal GenitaliaMale: azoospermia Genitourinary Internal Genitalia Female: bicornuate uterus[malacards.org]

  • Ovarian Dysgenesis

    The presence of a hypoplastic uterus implies a deficiency of anti Mullerian hormone in utero (absent functional testicular tissue).[omicsonline.org] We present a case of a 33-year-old woman with Turner syndrome, primary amenorrhea and menopausal hormonal profile in which peritoneal endometriosis (white opacification type[ncbi.nlm.nih.gov] A healthy non-dysmorphic 23 year-old phenotypic female with primary amenorrhea and infertility presented for reproductive endocrinology evaluation.[ncbi.nlm.nih.gov]

  • Agenesis of Uterus

    Imaging workup of MRKH syndrome includes US, CT, or MRI, which can identify the absent or hypoplastic uterus, cervix, and vagina. 24–28 However, neither US, CT, nor MRI is[journals.lww.com] In case of persistent primary amenorrhea, despite estrogen replacement, this unusual combination should be considered in girls with CHARGE syndrome.[ncbi.nlm.nih.gov] Patients with pure gonadal dysgenesis/agenesis are often short in stature with primary or secondary amenorrhea.[clinicaladvisor.com]

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