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IN THE NAME OF GOD. 15 y. CC: Abdominal Pain+Primary Amenorrea PMH: (-) FH: Her sister had gross Hematuria during menstural cycle. PH/EX : NL Diagnosis: Sonography UT=NL. ET=2mm. 7×5 cm. mass. Treatment: Surgery. 3×4 cm. Ovaries:NL.

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slide2
15 y

CC: Abdominal Pain+Primary

Amenorrea

PMH: (-)

FH: Her sister had gross Hematuria during menstural cycle.

PH/EX: NL

Diagnosis: Sonography UT=NL

ET=2mm

7×5 cm

mass

Treatment: Surgery

3×4 cm

Ovaries:NL

slide3

Fig.1. Unilateral obstruction of a horn (A) and the vagina (B). When there is failure of lateral fusion of the müllerian ducts with unilateral obstruction, absence of the ipsilateral kidney is the rule. Thus, an intravenous pyelogram is an essential diagnostic tool and may clarify the diagnosis in obscured circumstances.(Rock JA: Diagnosing and repairing uterine anomalies. Contemp Obstet

slide4

Fig. 2. Double uterus, complete or incomplete vaginal obstruction, and ipsilateral renal agenesis. A. Complete vaginal obstruction. B. Incomplete vaginal obstruction. C. Complete vaginal obstruction with a lateral communicating double uterus.(Rock JA, Jones HW Jr: The double uterus associated with an obstructed hemivagina and ipsilateral renal agenesis. Am J Obstet Gynecol 138:340, 1980)

introduction
INTRODUCTION

Amenorrhea (absence of menses) is often classified as either primary (absence of menarche by age 16) orsecondary (absence of menses for more than three cycle intervals or six months in women who were previously menstruating).

definition
DEFINITION

Primary amenorrhea is defined as the absence of menses at age 16 in the presence of normal growth and secondary sexual characteristics. At age 13, if no menses have occurred and there is an absence of secondary sexual characteristics, such as breast developmentevaluation for primary amenorrhea should be begun.

The American Fertility Society

etiology
ETIOLOGY
  • Chromosomal abnormalities causing gonadal dysgenesis— 50 %
  • Hypothalamic hypogonadism — 20 %
  • Absence of the uterus, cervix and/or vagina, müllerian agenesis — 15 %
  • Transverse vaginal septum or imperforate hymen — 5 %
  • Pituitary disease — 5%

The remaining 5 % of cases are due to a combination of disorders including androgen insensitivity due to mutations in the androgen receptor, congenital adrenal hyperplasia, and polycystic ovary syndrome.

congenital anatomic lesions of the uterus and vagina
Congenital anatomic lesions of the uterus and vagina

Pelvic or lower abdominal pain is a common presenting symptom in girls with primary amenorrhea and an obstructed reproductive tract.

imperforate hymen
Imperforate hymen

An imperforate hymen is the simplest defect that results in primary amenorrhea. It may be associated with cyclic pelvic pain and a perirectal mass from sequestration of blood in the vagina (hematocolpos). Similar findings can be seen with defects in perineal development, which can result in absence of the distal third of the vagina and therefore absence of an outflow tract. Both of these conditions are diagnosed by physical examination. An imperforate hymen is easily corrected with surgery.

slide14

Fig. 5  Imperforate hymen. Notice the thin, transparent hymen stretched over the dark-colored accumulated menstrual blood.

transverse vaginal septum
Transverse vaginal septum

One or more transverse vaginal septae can occur at any level between the hymenal ring and the cervix.

vaginal agenesis
Vaginal agenesis 

Vaginal agenesis is usually accompanied by cervical and uterine agenesis.

diagnostic evaluation
DIAGNOSTIC EVALUATION

Primary amenorrhea is evaluated most efficiently by focusing on the presence or absence of breast development (a marker of estrogen action and therefore function of the ovary), the presence or absence of the uterus (as determined by ultrasound, or in more complex cases by magnetic resonance imaging) and the FSH level.

diagnostic evaluation1
DIAGNOSTIC EVALUATION
  • If the ultrasound indicates that the uterus is absent and FSH is normal, the probable diagnosis is mullerian agenesis or androgen insensitivity syndrome. In the case of mullerian agenesis, the circulating testosterone is in the normal range for women and in the case of androgen insensitivity the circulating testosterone is in the male range.
  • If the FSH is normal, and both breast development and the uterus are present, then the work-up should focus on the common causes of secondary amenorrhea, where the initial work up includes measurement of height and weight, serum FSH, prolactin and TSH.
diagnostic evaluation2
DIAGNOSTIC EVALUATION
  • Step I: History
  • Has she completed other stages of puberty?
  • Is there a family history of delayed or absent puberty, suggesting a possible familial disorder?
  • Are there any symptoms of virilization?
  • Has there been recent stress?
  • Is she taking any drugs?
  • Is there galactorrhea?
diagnostic evaluation3
DIAGNOSTIC EVALUATION
  • Step II: Physical examination
  • An evaluation of pubertal development
  • An assessment of breast development
  • A careful genital examination.

Step III: Basic laboratory testing

 Uterus absent 

 Uterus present

treatment
TREATMENT

Treatment of primary amenorrhea is directed at correcting the underlying pathology.

slide22

congenital anomalies of the uterus

  • Congenital anomalies of the uterus are often asymptomatic and therefore unrecognized. They may affect a young woman due to pain at the time of menarche, or a woman's obstetric and/or gynecologic health.
  • The American Fertility Society in 1988 produced a standard form for classification of müllerian defects (table1) Dr Bier 2006
slide23

Classification of Müllerian anomalies according to the AFS classification system

  • Type I: "Müllerian" agenesis or hypoplasia :

A. Vaginal (uterus may be normal or exhibit a variety of malformations)

B. Cervical C. Fundal D. Tubal

E. Combined

  • Type II: Unicornuate uterus :

A1a. Communicating (endometrial cavity present)

A1b. Noncommunicating (endometrial cavity present)

A2. Horn without endometrial cavity

B. No rudimentary horn

slide24

Type III: Uterus didelphys Type IV: Uterus bicornuate:A. Complete (division down to internal os)B. PartialC. ArcuateType V: Septate uterus: A. Complete (septum to internal os)B. PartialType VI: Diethylstibestrol-related anomalies: A. T-shaped uterusB. T-shaped with dilated horns

slide25

INCIDENCE

  •  The incidence of congenital uterine anomalies is difficult to determine since many women with such anomalies are not diagnosed, especially if they are asymptomatic. Uterine anomalies occur in 2 to 4 percent of fertile women with normal reproductive outcomes. Dr Mars 2010
frequency of specific anomalies
Frequency of specific anomalies
  • A review including a combined population of infertile and fertile women, the frequency of anomalies by type was:
  • septate (35 percent),
  • bicornuate (26 percent),
  • arcuate (18 percent),
  • unicornuate (10 percent),
  • didelphys (8 percent),
  • and agenesis (3 percent)
developmental defects
DEVELOPMENTAL DEFECTS
  • There are three common developmental defects of the müllerian system to consider:
  • Agenesis
  • Lateral fusion defects
  • Vertical fusion defects

Uterine didelphys: Uterine didelphys, or double uterus, occurs when the two müllerian ducts fail to fuse, thus producing duplication of the reproductive structures.

Associated renal anomalies : Renal anomalies are found in 20 to 30 percent of women with müllerian defects.

slide28

ETIOLOGY

  •  The underlying etiology of congenital müllerian defects is not well understood. The karyotype of women with these anomalies is usually normal (46,XX in 92 percent). Most of the defects are likely to be related to polygenic and multifactorial causes.
slide29

CLINICAL MANIFESTATIONS

  •  Adolescents may present with pelvic pain. Many anomalies in adults are discovered after hysterosalpingography during a work-up of infertility or reproductive loss.
slide30

Signs &

symptoms

The signs and symptoms associated with müllerian anomalies vary greatly, depending upon the defect involved.

  • Adolescents may have increased pelvic pain (either cyclic or noncyclic), dysmenorrhea, abnormal vaginal bleeding, or vaginal pain.
  • amenorrhea
  • Longitudinal vaginal septum may occur alone, but is usually seen with didelphic or other forms of double uterus. A vaginal septum may lead to dyspareunia
  • If one side of the vagina is obstructed, complications such a hydrocolpos and hematocolpos may occur and a mass may be detected on bimanual examination. In addition, microperforations into the obstructed vagina can lead to infection.
slide31

OBSTETRICAL COMPLICATIONS

  • Recurrent pregnancy loss
  • Preterm delivery
  • Malpresentation
  • Uterine rupture
slide32

DIAGNOSIS

  • A diagnosis of a structural uterine abnormality may be defined at hysterosalpingography during an infertility evaluation or by ultrasonography for an evaluation of pelvic pain or a mass, additional studies are often required for definitive diagnosis.
  • Traditionally, magnetic resonance imaging (MRI) has been considered the "gold standard" for diagnosing anomalies of the reproductive tract.
  • Hysterosalpingogram
  • Sonohysterography
  • 3-D ultrasound
  • In cases of complicated müllerian anomalies, additional information may also be obtained by examination with the patient under anesthesia, vaginoscopy, laparoscopy, and/or hysteroscopy. However, these procedures are required less frequently because of the radiologic advances described above.
slide33

Treatment

  • Longitudinal vaginal septum :

Longitudinal septa are typically associated with uterine anomalies, such as septate uterus and uterus didelphys.

Treatment:Treatment involves complete removal of the

septum. Excision is the traditional procedure with care to avoid

compromise to the bladder and rectum. The septal tissue should be

excised in total as retained fragments of septum may cause

dyspareunia. The septal tissue is resected and then the normal vaginal mucosas from each vagina are sutured together over the defect created by the resection. Surgery is not required in

asymptomatic women with a longitudinal vaginal septum, but will

facilitate vaginal delivery. Dr jerii 2007

slide34

Treatment

  • Obstructed hemi-vagina :

An obstructed hemi-vagina is usually associated with ipsilateral renal agenesis.

Treatment: Women with an obstructed hemi-vagina require

surgical correction due to pain, increased risk of infection, and

retrograde menses. The obstructed vagina is entered, the fluid is

drained, and then the vaginal tissue between the two vaginas is

resected. Great care is taken to avoid the bladder, rectum and the

cervixes.

some surgeons prefer to drain the

obstructed vagina by the creation of a "window" with a second

operation performed at a later time after the inflammation and

distention have resolved.

slide35

Treatment

  • Treatment of Imperforate hymen:
  • Repair of the hymen can be performed at any age; however, the repair is facilitated if the tissues have undergone estrogen stimulation. Therefore, surgery is ideal in the newborn, postpubertal, or premenarchal time periods. Surgical repair, performed under anesthesia, consists of an elliptical incision in the membrane close to the hymenal ring (figure 4) followed by evacuation of the obstructed material. Extra-hymenal tissue is excised using electrocautery to create a normal sized orifice and the vaginal mucosa is sutured to the hymenal ring using 3-0 or 4-0 vicryl or chromic suture to prevent adhesion and recurrence of the obstruction. Dr David 2005,Dr Dan 2007,Dr Valen 2008
slide37

Treatment

  • Treatment of Transverse vaginal septum:
  • A small septum can be resected, followed by an end-to-end anastomosis of the upper and lower vaginal mucosa. A thick septum is more difficult to excise and repair; excision should be attempted only by surgeons experienced with this procedure.
  • Reanastomosis is easier if the upper vagina has been distended with menstrual blood products, as this acts as a natural tissue expander to increase the amount of upper vaginal tissue available for the reanastomosis. In addition, preoperative use of vaginal dilators may thin the septum and facilitate reanastomosis. A Z-plasty technique can be used to prevent circumferential scar formation.