Journal of Postgraduate Gynecology & Obstetrics: April 2014

Mullerian duct anomalies (MDAs) are a complex group of uterine anomalies that present in adolescence or later, and affect a woman’s sexual and reproductive health. Though the reported incidence is 0.1 – 3.5% in the general population, we encounter a spectrum of anomalies at the tertiary care level, some of which have been presented in previous editions of this journal. MDAs are often only diagnosed when evaluating menstrual irregularities (primary or secondary amenorrhea, dysmenorrhea, cyclical abdominal pain) or infertility. The reported incidence varies from 3 -6% in women with infertility, to as high as 5-10% in patients with bad obstetric history.The practicing gynecologist may not routinely encounter these anomalies, and should be aware of the various types and classifications, diagnosis, surgical management and psychological and sexual consequences. This article addresses the recent proposed classification system, three-dimensional ultrasonography (3D-USG) and MRI in diagnosis, and endoscopic surgical correction in selected cases.

Normal development of the female reproductive tract involves a series of complex interactions where the embryologic paired mullerian ducts originating from mesoderm, undergo dynamic processes of differentiation, migration, fusion and resorption (or canalization) to form the uterus, cervix, fallopian tubes and superior third of the vagina. MDAs can occur when there is a dysregulation or disruption in any of these normal processes. Although the urogenital sinus (UGS) arises from the endoderm, the developmental fate of both the mullerian ducts and UGS are closely linked; the lower two-thirds of vagina arise from the UGS. Concurrently, abnormalities of the urinary system and axial skeleton are associated with MDAs, and are sometimes first diagnosed when patients are evaluated for menstrual complaints or infertility.

The developmental stages when interruptions occur are well established, and defects are grouped according to the failed developmental mechanism that gives rise to a particular malformation. For easy understanding, it is practical to divide mullerian development into three sequential stages, namely development, fusion and degeneration and hence three general categories of failure, namely, nondevelopment, nonfusion, and nondegeneration.

Nondevelopment: Early arrest of development results in complete uterine agenesis (Mayer-Rokitansky-Kuster-Hauser syndrome), concomitant agenesis or hypoplasia of cervix and vagina, or segmental vaginal atresia. If only one of the mullerian ducts develops, unicornuate uterus results; rudimentary communicating or non-communicating horn with or without functional endometrium may co-exist.

Nonfusion: Complete failure of midline fusion results in uterus didelphys, whereas incomplete fusion leads to bicornuate uterus

Nondegeneration: Arrest at the final stage of degeneration or resorption of fused margins of mullerian ducts results in uterine or longitudinal vaginal septa, or arcuate uterus. Failure of canalization of the vaginal plate results in transverse vaginal septum.

The most widely used method of classification of MDAs is the American Fertility Society (AFS) classification based on the scheme of Buttram and Gibbons, which includes seven main categories and correlates anatomic anomalies with the degree of developmental failure. These categories are: I - segmental or complete agenesis or hypoplasia; II - unicornuate uterus (with/without rudimentary horn); III - didelphys uterus; IV - bicornuate uterus (complete or partial); V - septate uterus (complete or partial); VI - arcuate uterus and VII - DES- related abnormalities. The AFS classification is merely a framework; many MDAs coexist and not all fit completely into the above categories. This classification has been criticized as being awkward and confusing, as it does not account for combinations, or for cervical and vaginal defects which remain unclassified.

Recognizing the need for standardized common terminology among clinicians and researchers, the European Society of Human Reproduction and Embryology (ESHRE) and European Society for Gynaecological Endoscopy (ESGE), established a common working group named CONUTA (CONgenital UTerine Anomalies), with the goal of developing an updated classiﬁcation system based on anatomy. Anomalies are classified separately as uterine (U), and coexistent cervical (C) and vaginal (V), according to increasing severity of the anatomical deviation with the normal variants at the beginning and more deformed types at the end.

Uterine anomalies: U0 - normal uterus; U1- dysmorphic uterus; U2 - septate uterus; U3- bicorporeal uterus; U4 - hemi-uterus; U5- aplastic uterus; U6 – unclassified malformations. These main classes are subdivided into anatomical varieties with clinical significance, such as partial, complete, rudimentary horn, etc.

Cervical anomalies: C0 – normal cervix; C1 – septate cervix; C2 – double cervix; C3 – unilateral cervical aplasia; C4 – cervical aplasia.

Vaginal anomalies: V0 – normal vagina; V1- longitudinal non- obstructing vaginal septum; V2 - longitudinal obstructing vaginal septum; V3 – transverse vaginal septum and/or imperforate hymen; V4 – vaginal aplasia.

This system was developed using scientific research, consensus assessment and consensus development; its clinical value however needs to be proved in day-to-day practice.

Traditionally, hysterosalpingography (HSG) has been used to evaluate the cervical canal, uterine cavity and fallopian tubes; it can diagnose uterine septa, intrauterine synechiae, submucous fibroids, as well as evaluate tubal patency. However, it has limited accuracy as it cannot be used in virgins, it does not image obstructed canals or the external uterine fundal contour (hence cannot differentiate between uterus didelphys and septate uterus). Ultrasonography alone has a variable sensitivity and specificity in diagnosis of MDAs, and depends on the type of transducer and skill of the sonologist. Currently, MRI is the gold standard imaging modality for MDAs because it is non-invasive, has exceptional accuracy (96-100%), does not involve ionizing radiation, has multiplanar capability, and allows excellent soft tissue characterization. MRI provides for accurate classification of the type of anomaly in the pediatric and adolescent population; it reduces the number of invasive procedures by guiding management decisions. MRI has an excellent correlation with intraoperative laparoscopic findings in predicting anatomical defects. Recently the use of 3D-USG has proven to be more sensitive and specific than MRI in categorizing specific types of MDAs, though MRI is superior for cervical and vaginal anomalies. 3D-USG has the added advantage of being cost-effective and providing immediate results, and as practitioners become more experienced in its use, it may emerge as the new reference standard. Presently however there is a lack of comparative studies between MRI and 3D-USG. MRI features of MDAs are well described elsewhere.

Regardless of whether diagnosis is by HSG, USG, MRI or a combination, management at a higher center is associated with more accurate diagnosis and a reduction in the number of inappropriate surgical interventions. After an accurate diagnosis is reached, many treatment options exist which are usually tailored to the specific anomaly. Vaginal atresia is surgically corrected by creation of a neovagina. Several vaginoplasty methods have been developed and refined; the modified McIndoe procedure remains the most common surgical approach. Various materials used to line the neovagina are skin graft, human amnion, bowel segment, and exogenous graft sources like artificial dermis and absorbable adhesion barriers. Alternate methods are the Vecchietti laparoscopic procedure.

Septate uterus is the most common MDA, and hysteroscopic septal resection is a relatively simple procedure. However, the decision to perform septal resection should be based on poor reproductive performance rather than the presence of a septum. Laparoscopy has made surgical correction of MDAs less invasive, and laparoscopic hemihysterectomy has been used successfully for the excision of a rudimentary horn. Decision to perform metroplasty for uterus didelphys or bicornuate uterus should be individualized, and the apparent benefits of this surgery are not clear. Laparoscopic-assisted uterovaginal anastomosis with placement of a silicone stent in patients with cervical agenesis along with concomitant vaginoplasty has been described; endometriosis and subsequent hysterectomy may be averted in these young girls and menstrual function restored. It should be kept in mind that a high transverse vaginal septum is one of the most difficult anomalies to treat and patients may be subjected to numerous surgical attempts. Case reports and case series from large centers continue to provide insights into novel surgical approaches and operative techniques.

In conclusion, MDAs consist of a wide range of defects, and their diagnosis and management should be individualized taking anatomical and clinical characteristics into consideration. Postoperative restoration of long term reproductive and sexual function in women with MDAs continues to remain a challenge.

Polyembolokoilamania in Gynecology

Author Information

Parulekar SV.

(Professor and Head of Department of Obstetrics and Gynecology, Seth GS Medical College and KEM Hospital, Mumbai, India.)

Abstract

Polyembolokoilamania is inserting a foreign body into one body orifice or more.^[1] A case of self-insertion of an iron rod into the vagina which passed through the urinary bladder into exptraperitoneal pelvic and abdominal tissues is presented.

Introduction

Polyembolokoilamania is inserting a foreign body into one body orifice or more.^[1] The vagina is a not uncommon site of insertion of foreign bodies. These may be self inserted, as for medical treatment, sexual purposes or to achieve a criminal abortion; or due to psychiatric reasons. These may be inserted by others with a view to harm the women concerned, as a part of sexual or physical assault or to achieve a criminal abortion. Clinical presentation of a foreign body in the vagina can be varied. It can be catastrophic if the foreign body penetrates into the peritoneal cavity. In such cases, the patient needs treatment by joint effort of a gynaecologist, surgeon, and psychiatrist. A case of self-insertion of an iron rod into the vagina which passed through the urinary bladder into exptraperitoneal pelvic and abdominal tissues is presented.

Case Report

A 31 years old woman, para 2 living 2 presented with a complaint of involuntary passage of urine vaginally for 2 days. She gave a history of passing a pointed iron rod into her own vagina prior to the beginning of urinary incontinence. She had had mild vaginal bleeding after the insertion, which had stopped without any treatment. The patient had been deserted by her husband. She knew she was HIV positive. She had suicidal tendencies and had inserted the rod thinking it would kill her. There was no history suggestive of an injury to intraperitoneal structures. On examination, her general condition was fair and vital parameters were normal. Systemic examination revealed no abnormality. Her abdomen was soft, with no tenderness, guarding, rigidity, or free fluid. Peristaltic .sounds were normal Speculum examination showed a normal cervix, and a puncture mark in the anterior vaginal fornix a little to the right of the midline. Urine was seen to be leaking from that puncture. The iron rod was not visible. Bimanual pelvic examination showed mild tenderness in the anterior fornix, and normal sized uterus in retroverted position. No foreign body was palpable. A plain radiograph of the abdomen and pelvis showed a long, rod-shaped metallic foreign body with a pointed end in the pelvis and lower abdomen on the right side, the pointed end pointing upwards (figure 1). There was no free gas under the diaphragm, and no other abnormality. A Foley’s catheter was passed into the urinary bladder and continuous drainage of the bladder was maintained. Hemogram of the patient showed mild anemia and normal white blood cell and platelet counts. Plasma sugar level, renal and liver function test results were normal. Abdominopelvic ultrasonography showed the rod-shaped foreign body to be within retroperitoneal soft tissues A cystoscopy was performed. It showed a 2 mm diameter puncture mark in the lower anterior wall of the bladder and another in the anterior wall of the bladder on the right side of the midline. There was no foreign body in the urinary bladder. An exploratory laparotomy was performed. The foreign body was removed from retroperitoneal tissues, its tip being near the left psoas major muscle. It was a 10 cm long iron nail with a pointed end but without a head. The patient made an uneventful recovery. She was put on antiretroviral therapy. After continuous bladder drainage for 14 days, the urinary catheter was removed. She did not have any urinary incontinence subsequently. Psychiatric evaluation of the patient showed suicidal tendency. She was treated with psychoactive drugs. Counselling was done about possible harm from insertion of foreign bodies into the vagina. The patient agreed not to indulge in such behavior again.

Figure 1. Plain radiograph of the abdomen and pelvis, showing the foreign body.

Discussion

Polyembolokoilamania is inserting a foreign body into one body orifice or more.^[1] Insertion of a foreign body into the vagina by self might be seen in cases of pessaries prescribed for prolapse of the uterus, tampons for containing menstrual blood, or hormone releasing rings for contraception.^[2] Foreign bodies may be inserted by women during masturbation, and a part of the foreign body may accidentally break inside the vagina.^[2] A child may insert a small foreign body into the vagina during play.^[3] But that is not very common. In places where medical termination of a pregnancy is not legal, vaginal insertion of sticks, catheters, or plant twigs may be done for achieving a criminal abortion.^[4,5] It may be done for smuggling of illicit drug.^[6] It may be a manifestation of a psychiatric condition, such as malingering, factitious illness, self-injury, or psychosis.^[7] Insertion of foreign bodies like rods, nails, or knives is usually done as sexual or physical violence against the woman by another person. There are reports of such insertions for torture.^[8]

This patient inserted a long nail into the vagina probably under extreme stress of her medical condition, desertion by the husband, and poverty. The insertion must have been quite forceful, since it passed through the bladder twice and into soft tissues in front of the urinary bladder. It was fortunate that the nail did not pass into the peritoneal cavity and injure bowel. It was also fortunate that the bladder injuries healed with prolonged catheterization, and a urinary fistula did not develop.

The presenting complaints can be vaginal discharge, foul odor, bleeding, and pain. There are features of local with/without systemic infection. If the peritoneal cavity has not been entered by a sharp and pointed object, its removal is usually sufficient. Local and systemic antibiotics are required too. If there is penetration of the bladder, rectum and/or peritoneal cavity, appropriate treatment by a specialist is warranted. A criminal abortion with an abortion stick or catheter may present with severe uterine sepsis, peritonitis and septicaemia. Besides broad spectrum antibiotics, a total abdominal hysterectomy and peritoneal drainage is often required. Septic shock needs to be managed appropriately. Based on the underlying cause, the patient often needs counselling and psychiatric care.^[9]

References

1. Unruh BT, Nejad SH, Stern TW, Stern TA. Insertion of Foreign Bodies (polyembolokoilamania): Underpinnings and Management Strategies. Prim Care Companion CNS Disord. 2012; 14(1): Available at: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3357565/

2. Jaluvka V., Novak A. Vaginal foreign bodies in women in postmenopause and in senium. Eur J Obstet Gynecol Reprod Biol. 1995;61(2):167–169.

3. Stricker T., Navratil F., Sennhauser F.H. Vaginal foreign bodies. J Paediatr Child Health. 2004;40(4):205–207.

4. Singh S, Deidre W. Estimated levels of Induced Abortion in six latin American Countries. International Family Planning Perspectives. 1994;20:4-13.

5. Fonseca W, Misago C, Correia L, Parente J, Oliveira FC. Determinants of induced abortion among women admitted to hospitals in the Nordeste region of Brazil. Revista de Saúde Pública. 1996;30:13-8.

6. Benjamin F., Guillaume A.J., Chao L.P., et al. Vaginal smuggling of illicit drug: a case requiring obstetric forceps for removal of the drug container. Am J Obstet Gynecol. 1994;171(5):1385–1387.

7. Melamed Y., Dalyahu Y., Vaiman R., et al. Foreign objects in the vagina of a mentally ill woman: case series. Gen Hosp Psychiatry. 2007;29(3):270–272.

8. THE WOMEN. Available at: http://mneumann.tripod.com/chile3a.html

9. Van Ophoven A, deKernion J. Clinical management of foreign bodies of the genitourinary tract. J Urol 2000;164:274–87.

Citation

Parulekar SV. Polyembolokoilamania in Gynecology. JPGO Volume 1 Issue 3, March 2014, available at: http://www.jpgo.org/2014/04/polyembolokoilamania-in-gynecology.html

Vitiligo In Pregnancy

Author Information

Harjitkaur Ankur *, Gupta AS**.

(* Fourth Year Resident, ** Professor. Department of Obstetrics and Gynecology, Seth G. S. Medical College & K.E.M. Hospital, Mumbai, India.)

Abstract

Vitiligo is characterized by patchy depigmentation of the skin due to selective destruction of melanocytes. The exact etiology is debatable. The most likely cause is an autoimmune disorder. Women are predisposed to autoimmune disorders and these may be associated with adverse pregnancy outcomes, like recurrent pregnancy wastage, intrauterine growth restriction (IUGR), and pre-eclampsia.[1] The outcome of vitiligo in a gravid woman is undescribed in literature. We herein report a rare case of a third gravida woman who developed hypopigmented patches during pregnancy.

Introduction

Vitiligo is an acquired pigmentary disorder of unknown etiology. Distinctive clinical feature is the development of white macules on the skin. It is related to the selective loss of melanocytes. Incidence ranges from less than 0.1% to greater than 8% worldwide. It is around 1% in the United States and in Europe and 0.46% in India.[2,3,4,5]. The exact etiology of Vitiligo is unknown, but is believed to be have an autoimmune component.[6] As with all autoimmune diseases, course of the disease is unpredictable during pregnancy and it has been associated with bad obstetrical outcome and recurrent abortions. Because of the rarity of this disease and its association with pregnancy, there have been no controlled trials on the management of vitiligo in pregnancy. Herein we report a case of third gravida woman with previous two abortions, who developed hypopigmented patches on face, neck and forearm.

Case Report

A 24 year old third gravida with previous 2 abortions at 20 weeks of gestation came to outpatient department of our tertiary institute with complaints of hypopigmented patches on face, neck and forearm for 1 week. It started increasing gradually and was not associated with any itching. On examination, vital parameters were stable. Systemic examination was normal. On abdominal examination uterus was 20 weeks in size, external ballottement was present. Irregular hypopigmented patches (5x7 cm) on neck and (2x2 cm) on forearm were seen as seen in Figure 1 and 2 respectively.

Figure 1: Antenatal clinical photograph showing hypopigmented patch over neck.

Figure 2: Antenatal clinical photograph showing lesion on forearm.

The patient was thoroughly evaluated. Her thyroid profile showed increased thyroid stimulating hormone (TSH 8.66) for which Thyroxine supplement 50 microgram on Monday to Friday and 100 microgram on weekend was started. She had no anti cardiolipin, lupus anticoagulant, and anti microsomal antibodies. Dermatological reference was done. She was diagnosed as a case of vitiligo. She was given desonite cream 0.05% for application once a day for one week. Her hypopigmented patches remained static on the forearm and neck throughout the remaining pregnancy. She delivered a normal healthy baby of 3.2 kg at term. In the post partum period as seen in Figure 3 and 4 the patient had a subjective feeling that patches and their whiteness had decreased both on her forearm and on her neck.

Figure 3: Post partum clinical photograph showing lesion on neck.

Figure 4: Post partum clinical photograph showing lesion on forearm.

Discussion

Vitiligo is an ancient disease and has a global prevalence.Multiple references in literature have described this condition and different aspects of its causes and therapy. The cause of vitiligo is unknown. The autoimmune hypothesis is the best supported causative hypothesis.^[5] There is evidence that emotional stress can precipitate this disease. It is difficult to precisely identify the triggering factors for vitiligo. Emotional stress, pregnancy, drug intake, trauma/injury are some of the triggers leading to destruction of the melanocytes.

In pregnancy vitiligo poses a threefold problem; first is by virtue of its autoimmune pathogenesis it is associated with bad obstetrical outcome and recurrent abortions. Second is the depigmentation itself and third is the emotional trauma that the patients suffer from. Besides the clinician is in a dilemma as the outcome of vitiligo in pregnancy is unpredictable and not well studied.

Our patient had a good pregnancy outcome and vitiligo did not cause any adverse effects on the mother or the fetus. Most authors also have reported that vitiligo is not associated with adverse pregnancy and birth outcome.^[1,6] They also observed no change during or immediately following pregnancy, but extension of the vitiligo immediately after delivery was noted by 31 per cent.^[1,6] In our patient objective improvement post delivery was negligible but the patient was very positive that some spots had disappeared and a few of them were less white. An increase in vitiligo during pregnancy was claimed by 7 per cent and a decrease by 3 per cent.^[1,6] The aim of this article is to highlight this rare association that has an unpredictable course, nevertheless the outcome can be good in some cases.

References

1. Horev A, Weintraub AY, Sergienko R, et al. Pregnancy outcome in women with vitiligo.Int J Dermatol. 2011 Sep;50(9):1083-5

2. Taieb A, Picardo M. The definition and assessment of vitiligo: a consensus report of the Vitiligo European Task Force. Pigment Cell Res 2007;20:27-35

3. Lu T, Gao T, Wang A et al. Vitiligo prevalence study in Shaanxi Province, China. Int J Dermatol 2007; 46:47-51.

4. Howitz J, Brodthagen H, Schwartz M et al. Prevalence of vitiligo. Epidemiological survey on the Isle of Bornholm, Denmark. Arch Dermatol 1977; 113:47-52.

5. Alikhan A, Felsten LM, Daly M et al. Vitiligo: A comprehensive overview Part I. Introduction, epidemiology, quality of life, diagnosis, differential diagnosis, associations, histopathology, etiology, and work-up. J Am Acad Dermatol. 2011 Sep; 65(3):473-91.

6. Gerson D et al. A study of the prognosis of vitiligo during pregnancy. Surg Cosmet Dermatol 2013; 5(1):379.

Citation

Ankur H, Gupta AS. Vitiligo In Pregnancy. JPGO Volume 1 Issue 4, April 2014, available at: http://www.jpgo.org/2014/04/vitiligo-in-pregnancy.html

Lethal Multiple Pterygium

Author Information

Shruti Panchbudhe*, Vibha More*, Kimaya Mali*, Meena Satia**, Sharayu Mirji***

(* Assistant Professor, ** Professor, *** Second year Resident. Department of Obstetrics and Gynecology, Seth G. S. Medical College & K.E.M. Hospital, Mumbai, India.)

Abstract

We describe a rare case of lethal multiple pterygium syndrome which was diagnosed prospectively at 16 weeks of gestation in a fetus without a family history of the disorder. Diagnosis was based on antenatal sonographic demonstration of severe limb contractures, absence of fetal limb movements, and a large cystic hygroma.

Introduction

The prevalence of multiple pterygium syndrome is unknown. This condition is inherited as an autosomal recessive pattern and some cases are also inherited in a X-linked recessive manner.^[1]The mutation in “cholinergic receptor, nicotinic, gamma” (CHRNG ) located on 2q37.1 is responsible for development of this syndrome. The mutation in the CHRNG gene results in a defective or missing γ subunit of the Acetyl Choline Receptor (AChR) and severity of the this gene mutation influences the severity of the condition. Lethal type results when there is no production of any γ subunit , while mutations that allow the production of some γ subunit will lead to the Escobar type of multiple pterygium syndrome.^[2] In the absence of this functional γ subunit, the fetal AChR protein is not assembled properly in the muscle cell membrane and the communication between nerve cells and muscle cells in the developing fetus is impaired. This results in a fetal akinesia sequence which leads to early embryonic immobility due to which the skin grows over the underlying joints, leading to formation of multiple pterygium.

Case report

A 28 year old woman, 5^th gravida with previous four first trimester abortions presented to the antenatal outpatient department at 6 weeks of gestation for antenatal registration. She had history of consanguineous marriage. Her previous pregnancies were missed abortions at around 2 months of gestation, for which suction evacuation was done. She was being evaluated by a private practitioner for bad obstetric history. Her parental karyotyping was normal. Thrombophilia profile with protein C, protein S, Anti thrombin III, Factor V Leiden mutation had already been done prior to this conception and found to be within normal limits. She was negative for Anti nuclear antibody, double stranded DNA, Lupus anticoagulant and Antiphospholipid antibody. TORCH titres were done which ruled out active infection. Her Thyroid stimulating hormone and glycosylated haemoglobin were in normal limits. Her blood group was Rh positive. She was started on periconceptional folic acid. In this present pregnancy she had spotting per vaginum at 6 weeks of gestation. On speculum examination there was minimal bleeding and on vaginum examination uterus was anteverted, 6 weeks, bilateral fornices were free and non tender and external os was closed. She was admitted as a case of threatened abortion with bad obstetric history. There was no further episode of spotting and ultrasonography confirmed a single live intrauterine gestation with gestational sac diameter of 24.4 mm, corresponding to gestational age of 6.4 weeks. She was started on low dose aspirin and micronised progesterone. Her first trimester screening scan was done at 12 weeks of gestation which showed a cystic lesion in the posterior part of the neck with septations suggestive of cystic hygroma and was advised chorionic villous sampling to rule out aneuploidies. A detailed malformation scan was done at 16 weeks of gestation which showed multiple malformations in the baby like cystic hygroma of 4×5 cm, body wall oedema, scalp oedema, pericardial effusion with all four limbs fixed in one position with no movement of the limbs. Chorionic villus sampling report was suggestive of normal karyotype in 37 of the 40 metaphases but three metaphases (7.5%) showed structural chromosomal anomalies like deletion of the terminal region of 9q, additional material on 9q and additional material on 17q in 1 metaphase each. On the basis of these findings, the patient and her relatives were explained about the poor fetal prognosis and they opted for termination of pregnancy. A second trimester medical termination pregnancy was done with misoprostol.. The weight of the abortus was 240 g and morphological appearance showed multiple pterygium at the neck, elbow, fingers, knee with cystic hygroma, malformed ribs, and atypical facial features which clinched the diagnosis of lethal type of multiple pterygium syndrome.

Figure 1. Ultrasonography showing fixed lower limbs at the knee joint with no fetal movements.

Figure 2. Chromosomal analysis report of chorionic villi.

Figure 3. Chromosomal analysis report of chorionic villi.

Figure 4. A and B: Anterior view of fetus having multiple pterygium at the neck, elbow, wrist, knee and ankle, syndactyly of the fingers, orofacial anomalies and rib defects; C: Lateral view. Note low set ears, rib defects and a appendage at the sacral region.

Discussion

Multiple pterygium syndrome is a condition that can be diagnosed in the antenatal period and is classified into two types; Escobar (nonlethal) and Lethal types. They are differentiated by the severity of their symptoms. Escobar type is the milder variety and Lethal type is fatal before birth or very soon after birth. The majority of fetuses with the Lethal disorder die in utero, and the those few who survive pregnancy develop pulmonary hypoplasia in the early neonatal period.

In multiple pterygium syndrome of the Escobar type, there is webbing typically affecting the skin of the neck, fingers, forearms, inner thighs, and backs of the knee .They may also have short stature, lung hypoplasia, arthrogryposis, scoliosis, orofacial features including ptosis, downslanting palpebral fissures, hypertelorism, long philtrum , small mouth, epicanthal fold, micrognathia, cleft palate, cleft lip and low-set ears. Musculoskeletal abnormalities include multiple flexion contractures, rib anomalies, vertebral anomalies like scoliosis, lordosis, congenital hip dislocation, soft tissue syndactly of the fingers, rocker bottom feet and talipes equinus. Males with this condition can have cryptorchidism and females can have absent labia majora. Escobar type does not deteriorate after birth as γ subunit found in the fetal AChR protein is replaced by another subunit to form adult AChR protein at thirty-third week of pregnancy and this is the reason most people with this type do not have problems with muscle movement after birth and later in life.^[3]

Lethal multiple pterygium syndrome has many of the features of the Escobar type. In addition affected foetuses may develop hydrops fetalis and cystic hygroma which is present in majority of the patients. They have severe arthrogryposis, hypoplasia of the lung, brain dysgenesis including hydranencephaly, cardiac hypertrophy, intestinal malrotation, cleft palate, cleft lip and microcephaly. Intestinal abnormalities, ocular defects such as cataracts, renal abnormalities like hydronephrosis or dysplastic kidneys, short umbilical cord, and a wide range of skeletal abnormalities, such as hypoplasias of spine, malformed ribs, syndactly of the fingers and hip dislocations are also found. Affected individuals may also develop congenital diaphragmatic hernia.^[4] Lethal multiple pterygium syndrome is further subdivided into a number of subtypes, including lethal multiple pterygium syndrome with spinal fusion, lethal popliteal pterygium syndrome, and lethal multiple pterygium syndrome with congenital bone fusion. But this classification does not hold true recently because different subtypes are found in the same families. In most prior reports, the diagnosis was made retrospectively on the basis of autopsy findings or depended on a family history. In the current case, antenatal diagnosis was based on identification of the characteristic combination of severe fixed limb contractures, cystic hygroma, and hydrops, malformed ribs and syndactly of the fingers in a patient without family history of this syndrome. Lethal multiple ptygerium syndrome may have a normal 46,XX or 46,XY karyotype and determining the fetal karyotype is an important step in confirming the diagnosis, since some of the abnormalities like cystic hygroma have a high association with chromosomal aneuploidies. The differential diagnosis

includes Pena-Shokeir syndrome, congenital myotonic dystrophy, arthrogryposis multiplex congenita and nonlethal pterygium syndrome.

References

1. Tolmie JL, Patrick A, Yates JRW: A lethal multiple pterygium syndrome with apparent X-linked recessive inheritance. Am J Med Genet 27:913, 1987

2. Morgan, N. V., Brueton, L. A., Cox, P., Greally, M. T., Tolmie, J., Pasha, S., Aligianis, I. A., van Bokhoven, H., Marton, T., Al-Gazali, L., Morton, J. E. V., Oley, C., Johnson, C. A., Trembath, R. C., Brunner, H. G., Maher, E. R. Mutations in the embryonal subunit of the acetylcholine receptor (CHRNG) cause lethal and Escobar variants of multiple pterygium syndrome. Am. J. Hum. Genet. 79: 390-395, 2006.

3. Hoffmann, K., Muller, J. S., Stricker, S., Megarbane, A., Rajab, A., Lindner, T. H., Cohen, M., Chouery, E., Adaimy, L., Ghanem, I., Delague, V., Boltshauser, E., Talim, B., Horvath, R., Robinson, P. N., Lochmuller, H., Hubner, C., Mundlos, S. Escobar syndrome is a prenatal myasthenia caused by disruption of the acetylcholine receptor fetal gamma subunit. Am. J. Hum. Genet. 79: 303-312, 2006.

4. Martin NJ, Hill JB, Cooper DH, et al: Lethal multiple pterygium syndrome: Three consecutive cases in one family. Am J Med Genet 24:295, 1986.

Citation

Panchbudhe S, More V, Mali K, Satia M, Mirji S. Lethal Multiple Pterygium. JPGO Volume 1 Issue 4, April 2014, available at: http://www.jpgo.org/2014/04/lethal-multiple-pterygium.html

Borderline Serous Papillary Neoplasm In A Term Pregnancy

Author Information

Vibha More*, Shruti Panchbudhe*, Kimaya

Mali

*, Meena Satia**, Bang Nidhi***

(* Assistant Professor, ** Professor, *** Second year Resident. Department of Obstetrics and Gynecology, Seth G. S. Medical College & K.E.M. Hospital, Mumbai, India.)

Abstract

The incidence of ovarian carcinoma in pregnancy is uncommon. A patient presented at 35 weeks with right sided ovarian mass of 15×13×12 cm and gross ascites. Emergency cesarean section was performed in view of primigravida with breech presentation in labor with right salphingo-oophorectomy with infra-colic omentectomy. Histopathological examination of right ovarian mass was suggestive of borderline serous papillary neoplasm.

Introduction

Epithelial ovarian cancer during pregnancy is rare. Early detection of ovarian cancer has increased with the use of routine prenatal ultrasonography. Epithelial cancers are asymptomatic other than those symptoms induced mechanically by the size of the tumor. Confusion of symptomatology with the physiologic changes associated with the pregnant state also causes a delay in diagnosis. The majority of ovarian cancers diagnosed during pregnancy are found at an early stage, with maternal prognosis similar to that in the non-pregnant patient.

Case report

A 22 years old woman, primigravida with 35 weeks of gestation was referred from a private hospital with right ovarian malignancy and gross ascites. She was registered at that private hospital at two months of pregnancy. Her routine ultrasonography at eight weeks of gestation detected right ovarian mass measuring 9×8×11cm and mild free fluid in the cul de sac. Both arterial and venous flows were present with decreased resistance index of 0.3 in the right ovary on Doppler study. She had regular antenatal visits and her only complaint was increased distension of abdomen from the third month of her pregnancy. Repeat ultrasonography was performed at 20 weeks of gestation which was showed moderate ascites and a 9.8×6.8 cm sized isoechoic to hypoechoic lesion in right adnexa with central cystic degeneration. The right ovary was not visualised separately from the mass. Her CA 125 was 454.9 U/ml. Cytological examination of her peritoneal fluid showed lymphocytes, neutrophils and plenty of reactive mesothelial cells with no malignant cells. Serial ultrasonography of the abdomen showed increasing ascites while size of ovarian mass remained the same. There was a slight increase in Ca 125 level to 469 U/ml.

She was referred to us at 35 weeks of gestation with chief complaints of pain in abdomen with right ovarian mass with gross ascites for further management. On examination her vital parameters were stable. Systemic examination was normal. Abdominal examination revealed gross ascites due to which fundal height, presenting part and fetal heart sound were not appreciated. On vaginal examination, the cervix was 2 cm dilated and 50% effaced, the presenting part was breech, fetal membranes were intact, and show was seen. Fetal heart sounds were demonstrated on ultrasonography. An emergency lower segment caesarean was done for primigravida with breech presentation in early labor. A male fetus weight 1.5 kg was delivered with Apgar score of 9/10. Around 8 to 10 L of pale yellow ascitic fluid was drained. There was a right sided ovarian mass measuring about 15×13×12 cm in size, which was firm in consistency. Capsule of the ovarian mass was breached and externally there was a fungating growth of about 5 cm above the surface of ovary. The fungating growth was greyish brown in color, soft to firm in consistency, and with few yellowish white areas. There was also an intrauterine septum with sub mucosal fibroid of around 5 cm on the posterior wall of the uterus. In view of above intraoperative findings right salphingo-oophorectomy with infra-colic omentectomy was done. Specimen was sent for histopathology and peritoneal fluid was sent for cytology. Her post operative course was uneventful. On day 2 postoperative her Ca 125 was 226 U/ml and other tumor markers were within normal range .There were no malignant cell detected on cytology of peritoneal fluid. Histopathological examination of the right ovarian mass was suggestive of borderline serous papillary neoplasm and there was no definite evidence of malignancy in the omentum. This diagnosis was confirmed at an oncology center. According to International Federation of Gynaecology and obstetrics (FIGO) classification, the patient belonged to category stage1c. The patient was advised only follow up visits.

Figure 1: Right ovarian mass (green arrow), fibroid (yellow arrow), indentation on fundus due to septum (orange arrow) and normal ovary (purple arrow).

Figure 2: Fungating growth on the surface of the ovarian mass (arrow).

Figure 3: Omentum with nodules.

Discussion

Epithelial cancers are most common ovarian malignancies of which 75% are of serous type. Ovarian cancers are associated with low parity and infertility. The incidence of ovarian tumor is 1/556 during pregnancy.^[^1] Approximately 3% of women diagnosed with a malignancy of the reproductive tract will have a coexisting pregnancy.^[2] In first two decades of life, almost 75% of ovarian tumors are of germ cell origin. Dysgerminoma is the most common ovarian germ cell tumor that coexists with pregnancy, and constitutes 25-35% of all ovarian cancers.^[^3]Borderline ovarian tumors are tumors of low malignant potential which are confined to the ovary, encountered most frequently between the ages of 30-50 years and are associated with a good prognosis. The histological types of ovarian cancers during pregnancy are similar to those for non pregnant women in the corresponding reproductive-age group as reported in several studies.^[4]

Ovarian cancers are usually asymptomatic. The vague digestive disturbances such as flatulence, eructation and abdominal discomfort may precede other symptoms by many months which have led to the well accepted statement "How many early ovarian carcinomas have been nurtured in the sea of soda-bicarbonates". Diagnostic delay is also due to confusion of symptomatology with the physiologic changes associated with the pregnant state. An ultrasonography is routinely performed for evaluating fetal status in pregnant women, which also helps in the early detection of an incidental ovarian tumor. With increased use of routine prenatal ultrasonography, finding of an adnexal mass in pregnancy is also increasing. In malignant tumors the resistance index is usually low (< 0.4) and there is high peak velocity on Doppler studies. CT and MRI can be used to evaluate the tumor and the extent of its spread. CA-125 higher than 35 U/ml is found in over 80% of non mucinous epithelial ovarian cancers.

During pregnancy, surgical management of an adnexal mass creates a dilemma to gynecologists. In case of an adnexal mass greater than 6 cm in diameter, with a complex structure, or ascites, surgical management is critical for obtaining a final histological diagnosis and ruling out malignancy.^[5]

In stage 1 low grade, low risk abdominal hysterectomy with bilateral salphingo-oophorectomy is appropriate. In patients who desire to preserve fertility, uterus and contralateral ovary can be preserved in women with stage 1A, grade 1 to 2 disease. Careful monitoring of such patients is required, with routine periodic pelvic examination and serum CA-125 levels.

References

1. Hopkins MP, Duchon MA. Adnexal surgery in pregnancy. J Reprod Med.1986; 31:1035–1037.

2. Zanotti KS, Belinson JL, Kennedy AW. Treatment of gynecologic cancers in pregnancy. Semin Oncol. 2000;27:686–698.

3. Dgani R, Shoham Z, Atar E, Zosmer A, Lancet M. Ovarian carcinoma during pregnancy: a study of 23 cases in Israel between the years 1960 and 1984. Gynecol Oncol. 1989;33:326–331.

4. Behtash N, Karimi Zarchi M, Modares Gilani M, Ghaemmaghami F, Mousavi A, Ghotbizadeh F. Ovarian carcinoma associated with pregnancy: a clinicopathologic analysis of 23 cases and review of the literature. BMC Pregnancy Childbirth. 2008;8:3.

5. Dudkiewicz J, Kowalski T, Grzonka D, Czarnecki M. Ovarian tumors in pregnancy. Ginekol Pol. 2002;73:342–345.

Citation

More V, Panchbudhe S, Mali K, Satia M, Bang N. Borderline Serous Papillary Neoplasm In A Term Pregnancy. JPGO Volume 1 Issue 4, April 2014, available at: http://www.jpgo.org/2014/04/borderline-serous-papillary-neoplasm-in.html

Thyroid Storm in a Case of Complete Vesicular Mole

Author Information

Pandey N*, Jamdade K**, Gupta AS***.

(* Second Year Resident, ** Assistant Professor *** Professor. Department of Obstetrics and Gynecology, Seth G. S. Medical College & K.E.M. Hospital, Mumbai, India.)

Abstract

Thyroid storm is a known complication in a case of complete vesicular mole, although an uncommon one.^[1] This emergency situation can prove hazardous if proper and immediate corrective measures are not taken. Anesthesia and surgical procedures are known to precipitate a thyroid storm in a patient with clinical hyperthyroidism.^[1] In our present case, a patient of complete vesicular mole went into a thyroid storm without any obvious precipitating factors. Even though corrective measures were taken on a war footing, the patient developed dilated cardiomyopathy with congestive heart failure secondary to the brief episode. Patient eventually developed torrential bleeding for which emergency suction and evacuation was performed after which the patient stabilized. This case highlights the importance of being prepared for this complication in a case of complete vesicular mole even when obvious clinical features of thyrotoxicosis are absent.

Introduction

Cases of hyperthyroidism in a patient of complete vesicular mole are mentioned in literature but thyroid storm is a rare complication.^[2,3] Patients whose clinical course has been unsupervised can land up with this complication when precipitating factors are present such as infection, anesthesia or a surgical intervention performed on them without proper prophylactic treatment.^[1]

Case Report

A 32 year old Gravida 4, Para3, Live 3, with 14 weeks’ gestation was referred to our tertiary care center with vaginal bleeding in a diagnosed case of vesicular mole. The patient had been bleeding on and off for 25 days, due to which she had received 5 units of blood over two days at a private center. The patient gave history of passing grape like mass on the day of referral. Other medical, surgical and past obstetric history was non-significant.

On examination, the patient’s general condition was fair. She had tachycardia with a pulse of 110/min and BP was 160/80 mm Hg. She was pale. Her respiratory and cardiac examination findings were within normal limits. On abdominal examination the uterus was 20 weeks in size, firm and relaxed. Per speculum examination showed bleeding through os. On vaginal examination the os was closed and fornices were free.

On investigations Hb was 10.9gm/dl, platelet count was 0.16 million/mm³ and total WBC count was 5,500/mm³. Her serum β-HCG level was 4.5 million mIU/ml. Thyroid function tests were sent. Ultrasonography (USG) of the pelvis was suggestive of a complete vesicular mole. Chest radiograph was within normal limits. Her liver, renal function tests and coagulation profile were within normal limits.

She was scheduled to undergo suction and evacuation in view of persistent vaginal bleeding. When the patient was connected to the cardiac monitors prior to administration of any medications, T wave inversion was noted in V3 and V4 chest leads. Serum electrolytes were sent and were normal. All of a sudden patient developed severe tachycardia with a pulse of 156 beats per min and a blood pressure of 170/110 mm of Hg. On auscultation of the chest, crepitations in all lung fields were heard. A clinical suspicion of a thyroid storm was made and the thyroid function test reports were requested urgently from the routine laboratory. Serum TSH levels were not detectable, T3 was 346 ng/dl and T4 was 27 mcg/dl. The diagnosis of thyroid storm was confirmed and an urgent cardiac and endocrine opinion was taken. She was administered a loading dose of 80 mg of neomercazole, 20 mg of propranolol and 300 mg of parenteral hydrocortisone. 2D Echo was done which showed an ejection fraction of 20%, left ventricular dysfunction and dilated cardiomyopathy. The patient developed torrential vaginal bleeding during her 2D Echo and was immediately shifted for emergency suction and evacuation after obtaining high risk consent (Grade IV anesthesia risk). Suction and evacuation was done under controlled general anesthesia. Estimated Blood loss was 1.2 L. Two units of blood were transfused. She was put on Continuous Positive Airway Pressure (CPAP) and shifted to ICCU for subsequent monitoring. She was managed with frusemide and spironolactone, ramipril 2.5mg OD, carvedilol 3.15mg BD, propanolol 10mg TDS and neomercazole 10mg TDS. The patient’s condition stabilized twenty four hours post procedure. Thyroid function tests were repeated daily. Free T3 levels fell from 4.04 nmol/L post procedure to 2.86 nmol/L one week after the procedure. Free T4 levels fell from 2.03 mcg/dl post procedure to 1.45 mcg/dl one week after procedure. Serum β-HCG levels fell from 0.616 million mIU/ml 48 hours post procedure to 0.141 million mIU/ml one week after the procedure. The patient was discharged and advised to follow-up regularly with the endocrinologist and gynecologist and to obtain serial β-HCG levels.

Discussion

Complete vesicular moles leads to hyperthyroidism due to β -HCG component that stimulates the thyroid gland, although clinical hyperthyroidism occurs in only 7% of the cases.^[1-5] Thyroid storm is an even rarer albeit serious complication of this condition. Anesthesia and surgical interventions are known to precipitate thyroid storm.^[1] In the present case, the patient went into a spontaneous thyroid storm without any obvious precipitating factor, probably due to very high β-HCG levels of 4.5 million mIU/ml. Cardiac failure developed secondary to dilated cardiomyopathy precipitated by the tachycardia. Once the molar tissue is evacuated, hyperthyroidism also settles secondary to the fall in β-HCG levels over a few weeks.^[4,5]

Conclusion

We can conclude that every case of complete vesicular mole should be worked up for thyroid function tests and prophylactic measures should be taken against development of thyroid storm before any sort of surgical intervention is done on the patient.

References

1. Berkowitz RS, Goldstein DP. Gestational Trophoblastic Disease. In Jonathan S. Berek, editor. Berek and Novak’s Gynaecology. 15th ed. New Delhi: Wolters Kluwer Health- Lippincott Williams and Wilkins 2012; pp.1458-1478.

2. Laurent V, Besson L, Doussin JF, Rondelet B. Hyperthyroidism induced by molar pregnancy. Ann Fr Anesth Reanim. Pubmed.1993; 12(4):424-7.

3. Klisiewicz AM, Teckie G, Raal FJ. Gestational trophoblastic neoplasia and disorders of thyroid function. JEMDSA. July 2008, Vol 13(2): 72-74.

4. Padmanabhan LD, Mhaskar R, Mhaskar A, Vallikad E. Trophoblastic Hyperthyroidism. JAPI. October 2003, Vol 51: 1011-1012.

5. Higgins HP, Hershman JM, Kenimer JG, Patillo RA, et al. The thyrotoxicosis of hydatidiform mole. Ann Intern Med. 1975 Sep;83(3):307-11.

Citation

Pandey N, Jamdade K, Gupta AS. Thyroid Storm in a Case of Complete Vesicular Mole. JPGO Volume 1 Issue 4, April 2014, available at: http://www.jpgo.org/2014/04/thyroid-storm-in-case-of-complete.html

Editors