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PRIMARY AMENORRHEA PowerPoint Presentation

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Description : PRIMARY AMENORRHEA Failure to achieve menstruation by the age of 16 years OR failure to achieve menstruation by 14 with the additional absence of breast development. Secondary amenorrhea, when menses have occurred at least once and were subsequently followed by the absence of menses for at least 6 months.

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Published on : Sep 18, 2020 | Views : 7212 | Downloads : 41

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Slide 1-

Primary Amenorrhea
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Definition Epidemiology Diagnostic workup Common manifestations Presentation (i.e history and physical findings) Intervention/Treatment options Cases/Questions Sources Agenda
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Failure to achieve menstruation by the age of 16 years OR failure to achieve menstruation by 14 with the additional absence of breast development Secondary amenorrhea, when menses have occurred at least once and were subsequently followed by the absence of menses for at least 6 months. What is Primary Amenorrhea
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In the U.S., the incidence of primary amenorrhea is less than <1%. Most common broad category of Primary amenorrhea is gonadal agenesis/dysgenesis (~50%) (Ferri et.al) Most common distinct diagnoses: 45X (~27%) Mullerian Agenesis (~15%) Constitutional delay (~14%) Epidemiology
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Primary Amenorrhea Diagnostic workup
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Mullerian Agenesis (mayer-Rokitansky-Küster-hauser syndrome) Androgen Insensitivity Syndrome Primary Amenorrhea with the absence of a Uterus
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45 XX Failure of distal fusion of the Mullerian ducts Normal ovaries and normal pubertal development Of note, 7-10% of patients have some residual uterine tissue present (Fedele L., Bianchi S., Frontino G., et al) 40% of a cohort of 92 patients with Mullerian agenesis had urogenetial abnormalities as well (Baramki, et al) Mullerian Agenesis (Mayer-Rokitansky-Küster-Hauser syndrome)
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45 XY Dysfunctional androgen receptors, leading to feminine external genetalia Anti-Mullerian hormone persists, Mullerian ducts are obliterated Nomral breast development, lack of pubic hair Androgen insensitivity syndrome
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High FSH 45XO Low to Normal FSH Imperforate hymen Primary Amenorrhea with the presence of a Uterus
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Half typically have 45X ,the other half some variation of X or Y abnormalities Defined by a unique collection of phenotypic abnormalities (Short stature, horseshoe kidneys, coarctation of the aorta) Need hormonal therapy to have Menstrual periods, although some with mosacisism can have sufficient estrogen to menstruate and develop breasts Turners Syndrome/Turner Mosaic
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Hymen is a membrane that is derived from the endoderm of the urogenital sinus epithelium Central cells typically obliterate late in fetal development Some cases can lead to retrograde flow, which can then lead to endometriosis in the proximal portions of the genital tract Surgical intervention necessary to relieve the obstruction Imperforate Hymen
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“A 14-year-old girl was referred with complaints of primary amenorrhea and nondevelopment of breast. Her built was normal. Examination of her secondary sexual characteristics revealed no breast development, absent axillary hairs, and sparse pubic hairs. External genitalia was of female type. Karyotype showed genotype of 46, XY. Magnetic resonance imaging revealed hypoplastic uterus with absent fallopian tubes and ovaries. Laparoscopy showed infantile uterus, normal fallopian tubes, and streak gonads” (Rizvi et.al) Case
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What is the diagnosis? Androgen insensitivity Syndrome 45X Swyer Syndrome mayer-Rokitansky-Küster-hauser syndrome Case
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45XY Complete Gonadal Dysgenesis Phenotypically female (female-appearing external genitalia) Bilateral streak gonads normally developed Mullerian structures hypergonadotropic hypogonadism No secondary sexual characterestics due to lack of hormonal production from gonads Swyer Syndrome
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Ferri, F. (2020). Ferris Clinical Advisor 2020. Elsevier. Hacker, N. F., Gambone, J. C., & Hobel, C. J. (2016). Hacker & Moores essentials of obstetrics and gynecology. Philadelphia, PA: Elsevier. Mishra, V., Priya, P., Choudhary, S., & Rizvi, J. (2017). A case of primary amenorrhea with swyer syndrome. Journal of Human Reproductive Sciences, 10(4), 310. doi: 10.4103/jhrs.jhrs_128_17 Fedele L., Bianchi S., Frontino G., et al: Laparoscopic findings and pelvic anatomy in Mayer-Rokitansky-Kuster-Hauser syndrome. Obstet Gynecol 2007; 109: pp. 1111-1115 Baramki T.A.: The treatment of congenital anomalies in girls and women. J Reprod Med 1984; 29: pp. 376-384 Smith, Roger P., MD... Published January 1, 2018. Pages 372-374. © 2018. Figure 180.1 Androgen insensitivity syndrome Gershenson, D. M., Lentz, G. M., Lobo, R. A., & Valea, F. A. (2017). Comprehensive gynecology. Philadelphia: Elsevier. Citations