Swyer syndrome presenting as dysgerminoma: A case report / Journal of the ASEAN Federation of Endocrine Societies

@#Complete gonadal dysgenesis with 46,XY karyotype is a clinical condition characterized by the absence of testicular tissue but typical Mullerian structures in a phenotypically female individual. The condition presents as primary amenorrhoea or delayed puberty. Eventually, malignant neoplasms may arise. We report a case of a 16-year-old patient with Swyer syndrome presenting with primary amenorrhoea and with previous diagnosis four years earlier of a malignant dysgerminoma in the right ovary.

CLINICAL AND CYTOGENETICS ANALYSIS OF WOMEN THAT WERE SUSPECTED FOR TURNER SYNDROME IDENTIFIED AS 19.8% CHROMOSOMALABNORMALITY IN NORTH INDIAN POPULATION

Purpose: The objective of present study was to know the contribution of different types chromosomal anomalies in manifestation of Turner syndrome. Turner syndrome is a chromosomal disorder mainly due to growth retardation and primary amenorrhoea. Cytogenetic analysis of cases referred for Turner syndrome is necessary for an early diagnosis which helps in genetic counselling to manage it in a better way. Total 237 cases suspected for Methods: Turner syndrome, were included in this study for duration of 7 years (2007-2014). We implemented the standard protocol for peripheral whole blood lymphocyte culture, chromosome preparation followed by G-banding. Chromosomes were analysed according to the guidelines of International System for Human Cytogenetic Nomenclature (2005). After analysing 237 Results: registered cases, chromosomal anomalies were seen only in 47 cases (19.8%). Careful clinical examination of patients with abnormal karyotype (n=47) revealed four major phenotypes i.e. growth retardation (n=19, 40.4%), primary amenorrhoea (n=19, 40.4%), primary amenorrhoea with growth retardation (n=6, 12.8%), and oligoamenorrhoea (n=3, 6.4%). Seven different types of chromosomal abnormalities were observed viz. Monosomy X (n=22, 46.8%), triple X syndrome (n=2, 4.2%), turner mosaic (n=3, 6.4%), ring chromosome (n=5, 10.6%), structural abnormalities with X chromosome (n=6, 12.8%), mosaic structural X abnormality (n=1, 2.1%), XY gonadal dysgenesis (n=8, 17%). This study revealed the frequency of Conclusion: most common clinical phenotype and different chromosomal abnormalities in patients suspected for turner syndrome. We observed growth retardation and primary amenorrhoea as most common clinical feature and monosomy of X chromosome as most frequent chromosomal abnormality in this cohort of study.

Complete Androgen Insensitivity Syndrome: Diagnosis and Psychological Impact in Two Adolescents, A Case Report

@#This case report illustrates two cases of complete androgen insensitivity syndrome (CAIS) which is a rare form of sexual development disorder. Both presented with primary amenorrhea at the age of 18 and 19 years old. The hormonal profiles ruled out hypothyroidism, hyperprolactinemia, and primary ovarian failure. Magnetic resonance imaging of both patients showed the absence of uterus, fallopian tubes, ovaries, but the presence of proximal 1/3rd of the vagina. There is a single testis in the left inguinal region with unknown status of spermatogenesis. Women with CAIS are vulnerable to various psychological conditions caused by the appalling fact of being genotypically male when they have been raised female all their life. The gender confusion, reproductive issues, and how others perceive them require sensitive support. Hence, accentuate the need to explore and address the emotional, psychological, and psychiatric vulnerabilities, religious and spiritual beliefs in issues of relationships, infertility, and conception.

Thyroid disorders in patients with abnormal uterine bleeding in tertiary care hospital in Chengalpattu district

Background: A relationship between the thyroid gland and the gonads is suggested by far more frequent occurrence of thyroid disorders in women than in men by clinical appearance of goiter during pregnancy, puberty, and menopause. Aim of this study was to determine the association between menstrual irregularities and thyroid dysfunction. To analyse the pattern of menstrual dysfunction among women with a thyroid disorder.Methods: This cross-sectional study was done in Karpaga Vinayaga Institute of Medical Sciences and Research Center - obstetrics and gynecology OPD. Over 6 months in the year 2019. 100 women who presented with abnormal uterine bleeding with the below exclusion criteria. Detailed history taking with an emphasis on age, parity, infertility, and menstrual disorders. Evaluation by pelvic examination along with the general physical examination of those with menstrual complaints. Routine investigations like Hb, BT, CT, TLC, DLC, platelet count, and ABO-Rh in all. Then all patients were subjected to estimation of serum T3, T4, TSH with early morning samples.Results: Menorrhagia presents in 39.4% of patients in the normal cohort and 63.6% in the thyroid dysfunction cohort. Hypomenorrhea presents in 4% normal cohort and 9.1% thyroid dysfunction cohort. Hypothyroidism presents in 7.27%, subclinical hypothyroidism in 1.81%, and hyperthyroidism in 0.92% of patients. Amenorrhoea presents in 16.2% of patients of the normal cohort and 9.1% of patients of thyroid dysfunction cohort. No statistical significance between amenorrhoea and thyroid dysfunction.32.3% in the normal cohort and 36.4% in thyroid dysfunction cohort had a bulky uterus. No statistical association exists between thyroid dysfunction and uterine size. In a histopathological examination of the endometrium, 49.5% in the normal cohort and 54.5% thyroid dysfunction cohort reported as proliferative endometrium. Amenorrhoea; the significant association between abnormal uterine bleeding and thyroid disorder (10%).Conclusions: The significant association between abnormal uterine bleeding and thyroid disorder (10%). It brings into focus the increased incidence of hypothyroidism among women with menorrhagia.

A clinical study of ectopic pregnancy at a tertiary care centre in Telangana, India

Background: Ectopic pregnancy (EP) is a life-threatening obstetrics emergency in early trimester, associated with a high morbidity and mortality if not timely intervened.  High index of clinical suspicion is required for early diagnosis, specifically in women presenting with amenorrhoea, pain abdomen and vaginal bleeding. Aim of this study is to determine the incidence, risk factors, clinical presentation, management and outcome of ectopic pregnancy.Methods: This retrospective observational study was conducted in the department of obstetrics and gynaecology, at Prathima institute of medical sciences, Telangana from July 2012 to June 2019, for a period of 7 years. A total of 53 cases of ectopic pregnancy were analyzed for parameters like age, gravidity, gestational age, risk factors, clinical presentation, management and morbidity.Results: Incidence of ectopic pregnancy was 5.3 per thousand deliveries. Majority of cases were in age group of 20 to 25 years (52.8%) and were gravida 3 and above (68%). The commonest risk factors identified were history of previous pelvic surgeries (37.7%) followed by history of abortion (18.8%). Commonest symptoms were abdominal pain (90.6%), amenorrhoea (75.5%) and vaginal bleeding (47.2%). Only 41.5 % of cases had triad of symptoms. Fallopian tube (92.4%), specifically ampulla (62.3%) was the most frequent site affected. About 73.6% cases presented with ruptured tube. Surgery (94.3%) was the mainstay of therapy.Conclusions: ectopic pregnancy is a life-threatening emergency, early diagnosis and treatment will improve the prognosis.

Recurrent hematometra with endometriosis in an adolescent girl: a case report

Hematometra is a collection or retention of blood in the uterine cavity. This condition is most commonly associated with congenital uterine anomalies that result from abnormal formation, fusion or resorption of Mullerian ducts during fetal life or may be due to prior surgical procedures, causing an obstruction of the genitourinary outflow tract. We report an unusual case of hematometra with endometriosis secondary to cervical stenosis. This is a rare and important case report due to the complexity of diagnosis as cervical stenosis was not presented as primary amenorrhoea as its usual presentation. This case was successfully managed by Hysteroscopic cervical dilatation under USG guidance followed by transcervical insertion of a catheter to prevent recurrent stenosis.

Study of incidence of premature ovarian failure in patient attending outpatient department for infertility in a tertiary care centre

Background: To assess the incidence of premature ovarian failure in cases attending infertility outpatient Department of Obstetrics and Gynecology in a tertiary care centre. A total of 350 patients attending infertility opd were screened over period of 150 days from which authors observed premature menopause in 10 cases accounting for an incidence of 2.8%. POF affects approximately one in 10,000 women by age 20; one in 1,000 women by age 30; one in 100 women by age 40.  Premature ovarian failure is a common cause of infertility in women.Methods: Patient attending outpatient Department of Obstetrics and Gynecology with age less than 40 years and infertility, symptoms of menopause were enrolled for the study for duration of 150 days.Results: Present study authors found a total of 2.8% of patient presenting in our outpatient department for infertility had Premature ovarian failure.80% of them were symptomatic suffering with symptoms of hormonal deficiencies .100% of patient with infertility diagnosed as premature ovarian failure had low AMH and High FSH and LH levels indicating poor prognosis.Conclusions: Patient presenting with infertility and amenorrhoea can be cases of premature menopause. Here it is essential to investigate and treat the patient. Infertility might be one of the early presenting symptoms if not the first one. These patients if treated and diagnosed early can have a better living. Considering the wide spectrum of functional derangements in patient with early menopause and benefits of early hormone replacements these patients should be diagnosed and treated early.

Prospective study of primary amenorrhoea and its management in a rural tertiary centre

Background: Amenorrhoea (absence of menstruation) is a symptom of varied causes. It results from dysfunction of hypothalamic-pituitary ovarian axis, uterus and vagina. It is a major concern for pubertal girls and their family members. It has a major impact on the physical, mental, psychological and social life of the girl and her family. The objective of the present study was to evaluate the aetiology and management of primary amenorrhoea in young adolescent girls.Methods: It was a prospective study conducted for a period of 2 years from August 2016 to July 2018 at Rajarajeswari medical college and hospital. Patients presenting with history of amenorrhoea that is, absence of menses by the age of 13 years with no visible development of secondary sexual characteristics or by 15 years of age with the presence of normal secondary sexual characteristics were included in our study. Cases of secondary amenorrhoea were excluded. Detailed history, examination, investigations and management was documented and analysed.Results: A total of 25 patients of primary amenorrhea were studied during the study period. In our study outflow tract anomalies were the commonest cause of amenorrhoea accounting for 84%, of which imperforate hymen (32%) and Mayer Rokitansky Küster Hauser syndrome (MRKH) 36% were the two most common Mullerian anomaly causing primary amenorrhoea. Gonadal dysgenesis accounted for 12% of the cases. Amenorrhoea was the commonest complaint patients presented with accounting to 76%, followed by cyclical pain abdomen accounting for 16% of cases.Conclusions: Primary amenorrhoea is multifactorial and is of major concern among adolescent girls. Early diagnosis and intervention has an impact on the physical and psychological wellbeing of the girl.

Ectopic pregnancy in a tertiary care centre of Jharkhand, India

Background: Ectopic pregnancy is one in which the fertilized ovum is implanted and develops outside the endometrial cavity. It is an important cause of maternal morbidity and mortality in first trimester. The present study was conducted to study the risk factors, clinical presentation and management of ectopic pregnancy in RIMS, Ranchi, Jharkhand, India.Methods: This was a prospective study conducted in the department of obstetrics and gynaecology, RIMS, Ranchi, Jharkhand during May 2017 to September 2018. A total of 90 cases were included in the study.Results: 80% of the patients presented with amenorrhoea, 98% had abdominal pain and 69% had vaginal bleeding. Ultrasonography revealed hemoperitoneum in about 93% patients. 16 (18%) patients had history of infertility whereas 10 patients (11%) had taken treatment of infertility.6 (7%) patients had history of STD or PID.14 (16%) had undergone bilateral tubectomy.2 (2%) had history of IUCD insertion and 12 (13%) patients had undergone previously lscs. 54 patients (60%) had undergone D and C and 6 patients (7%) had a previous history of ectopic pregnancy. 68 (76%) underwent only salpingectomy.12 (13%) had salpingo-oophorectomy and 10 (11%) had salpingectomy with contralateral tubectomy.Conclusions:Diagnosis of ectopic pregnancy requires clinical suspicion and supportive investigations like UPT, ultrasonography, β HCG and laparoscopy. It is an important cause of admission to RIMS as maternal near miss cases.Background: Ectopic pregnancy is one in which the fertilized ovum is implanted and develops outside the endometrial cavity. It is an important cause of maternal morbidity and mortality in first trimester. The present study was conducted to study the risk factors, clinical presentation and management of ectopic pregnancy in RIMS, Ranchi, Jharkhand, India.Methods: This was a prospective study conducted in the department of obstetrics and gynaecology, RIMS, Ranchi, Jharkhand during May 2017 to September 2018. A total of 90 cases were included in the study.Results: 80% of the patients presented with amenorrhoea, 98% had abdominal pain and 69% had vaginal bleeding. Ultrasonography revealed hemoperitoneum in about 93% patients. 16 (18%) patients had history of infertility whereas 10 patients (11%) had taken treatment of infertility.6 (7%) patients had history of STD or PID.14 (16%) had undergone bilateral tubectomy.2 (2%) had history of IUCD insertion and 12 (13%) patients had undergone previously lscs. 54 patients (60%) had undergone D and C and 6 patients (7%) had a previous history of ectopic pregnancy. 68 (76%) underwent only salpingectomy.12 (13%) had salpingo-oophorectomy and 10 (11%) had salpingectomy with contralateral tubectomy.Conclusions: Diagnosis of ectopic pregnancy requires clinical suspicion and supportive investigations like UPT, ultrasonography, β HCG and laparoscopy. It is an important cause of admission to RIMS as maternal near miss cases.

Cryptomenorrhoea due to imperforate hymen: a case report

Imperforate hymen is a rare obstructive congenital anomaly of the female genital tract which arises as a result of complete failure of canalisation of the inferior end of the vaginal plate at the junction between the urogenital sinus and the vagina. Its prevalence is 0.05%-0.1%. We are presenting a case of 14 years old girl who came with complaints of lower abdominal pain since 10 days not associated with nausea, vomiting and diarrhoea. She had not attained menarche but her secondary sexual characters were developed with breast, pubic and axillary hair in tanner stage 4. MRI revealed hematocolpos and hematometra with imperforate hymen. Hymenotomy was performed and 300-400 ml of thick tarry colour blood was drained. Her postoperative period was uneventful, and patient was discharged in satisfactory condition. On follow up after 1 month, patient resumed normal menses.

Clinical study of ectopic pregnancy at tertiary care center in Haryana, India

Background: Ectopic pregnancy is a life threatening condition in the first trimester of pregnancy. Diagnosis can be done by clinical examination, serum β-HCG and ultrasonography. This retrospective study was done to know the incidence, risk factors, and management of ectopic pregnancy.Methods: It was a retrospective study conducted on 75 patients of ectopic pregnancy admitted at tertiary care hospital in Haryana from February-2017 to January-2019. Data collected from record room and analysis done.Results: Total deliveries were conducted were 5064. The incidence of ectopic pregnancy was 1.48%, majority of the women were in the age group of 21-30 (68%), multi-parous (77.32%). The most common risk factor was abortion 33.33%, f/b tubal ligation was 13.13%, medical management of ectopic pregnancy done in 30.66%, 8% were managed by laproscopically and 58.66% by laparotomy.Conclusions: Safe sexual practices can reduce pelvic infections and ectopic pregnancy incidences. Early diagnosis before tubal rupture can reduce morbidity and mortality in ectopic pregnancy.

A cross sectional study on antipsychotic induced amenorrhoea in women attending a tertiary care centre in South India

Background: Absence of menstrual period in a woman of reproductive age group could be physiological or pathological. Ascertaining the cause for this is a common clinical scenario faced by physicians. It is also a common clinical problem in women who are on treatment with antipsychotic medication. This cross-sectional study aimed to assess the occurrence of antipsychotic induced amenorrhoea among women aged 18-45 years, attending outpatient services of a tertiary care setting, the factors associated and to assess the effective strategies of treatment.Methods: Retrospective chart review of clinical details of women in the reproductive age group who fulfilled the inclusion criteria was carried out. They were divided into two groups: Group A included 84 women with antipsychotic induced amenorrhea and Group B included 94 women on antipsychotics and had normal menstrual cycles. Various factors and strategies which worsened or alleviated the symptoms were noted.Results: Women who were less than 35 years of age, on antipsychotic treatment for more than two years duration (52;83.9%) and those who were on treatment with Risperidone (69;73.4%) were identified as having the risk of developing antipsychotic induced amenorrhoea. The strategy of switch of medication to prolactin sparing antipsychotic was more effective in regularising the menstrual cycles (43;87.8%).Conclusions: In women presenting with amenorrhoea, a possible medication induced aetiology need to be considered, especially use of antipsychotics. Further understanding of the complexities of this relationship may help to guide the assessment and proper treatment of women with antipsychotic related amenorrhoea.

Pre-operative diagnosis of ovarian ectopic pregnancy: a challenge to practicing clinician

The first case of primary ovarian ectopic pregnancy was reported by St. Maurice in 1689. Primary ovarian ectopic pregnancy is rare entity, with incidence of around 3% of all ectopic pregnancies. The aim of present case report is to study the role of different modalities like clinical findings, biochemistry, sonography, surgery and histopathology in diagnosis of primary ovarian ectopic pregnancy. Authors present a case of a 24 years old female with history of 2 months amenorrhoea, per vaginal spotting and mild intermittent abdominal pain in RIF. Examination was unremarkable and serum βHCG was 2007.5IU/ml. An ultrasound scan showed an ectopic mass in the right adnexa suggestive of a tubal ectopic pregnancy and she underwent surgical management at our institute.  At laparoscopy, both fallopian tubes were noted to be normal with an ectopic mass attached to the right ovary with a pedicle. With these unusual laparoscopic findings, possibilities of tubal miscarriage, ovarian pregnancy, or abdominal pregnancy were suspected. Ectopic mass was coagulated and cut through the pedicle with bipolar cautery and specimen was sent for HPE. Our patient made an uneventful recovery and no further medical management was indicated. The diagnosis of right ovarian ectopic pregnancy was finally confirmed by histopathological evidence of the presence of chorionic villi in a background of ovarian stromal tissue, in consideration with Spigelberg’s criteria. Present case highlights the importance of considering non-tubal ectopic pregnancies when making a diagnosis based on ultrasound scan. Pre-operative diagnosis of ovarian ectopic pregnancy still remains a challenge in spite of current medical advances. Despite the benefits and reliability of ultrasound scanning, there will still be situations where the definitive diagnosis can only be made at surgery. However, histopathological examination is confirmatory and always mandatory.

Study of management strategies in ACTH secreting pituitary microadenoma of Cushing disease

Background: Pituitary Microadenomas can be defined as small lesions less than 1 cm in the pituitary and detected as incidentalomas. Partial development or late development around puberty leads to maldevelopment of secondary sexual characteristics due to pituitary adenomas. Clinically this may manifest as secondary amenorrhoea and may lead to hyperprolactinaemia, galactorrhoea and Amenorrhoea. ACTH secreting micro adenomas of the Pituitary Gland is a clinical entity where the role of surgery is contemplated. This study attempted to explore the management options and strategies for pituitary microadenomas. The aim of the study: To highlight the characteristics of Cushing’s disease and discuss the management strategies including trans-sphenoidal surgery to treat ACTH secreting pituitary microadenomas. Materials and methods: This was a non-randomised prospective observational study involving all adrenal tumors from 2007-2017 in Madras Medical College, Chennai. Two adrenocortical adenomas M.S. Senthil Kumar, Rajan Ganesan, A. Nithyanandham, V. Kannan, T. Suresh Babu, K. Prabhakaran. Study of management strategies in ACTH secreting pituitary microadenoma of Cushing’s disease. IAIM, 2019; 6(3): 253-258. Page 254 with virilising features were ruled out and 8 ACTH secreting Cushing's disease with microadenomas were identified. 3 Patients with ACTH secreting microadenomas of Cushing's disease underwent surgery whereas 3 underwent medical treatment based on which this paper attempted to discuss management strategies for Cushings disease. Results: ACTH levels were measurable with an average of 136.71pg/ml (normal 7.2-63.3 pg/ml) Corticotrophin releasing hormone test was planned to evaluate an exaggerated response of serum cortisol consistent with pituitary disease. It was not carried out and inferior petrosal sampling also was not done. Biochemical evaluation confirmed pituitary dependent Cushing’s disease. MRI revealed a prominent circumscribed lesion suggestive of a Pituitary Micro Adenoma in All 6 Cases. Conclusion: Pituitary micro adenomas are operable and in Cushing’s disease offer an effective cure. The outcome is good with minimal complications, but surgeons must have a thorough knowledge of the surrounding anatomy and potential complications.

Hematocolpos por himen imperforado en una adolescente / Hematocolpus due to non-perforated hymen in an adolescent

Se describe el caso clínico de una adolescente de 12 años de edad, quien había estado ingresada 5 años atrás en el Servicio de Terapia Intensiva del Hospital Pediátrico Docente Sur Antonio María Béguez César de Santiago de Cuba por presentar enfermedad estafilocócica y amenorrea primaria. Esta vez acudió a consulta con dolor abdominal recurrente desde hacía 3 meses, localizado en hipogastrio, acompañado de náuseas y vómitos, que se aliviaba con los analgésicos habituales. Se le realizó la prueba de embarazo cuyo resultado fue negativo y las imágenes ecográficas sugirieron la presencia de hematocolpos. Se le realizó himenotomía y egresó de la institución 48 horas después con evolución favorable.

The case report of a 12 years-old adolescent is described who had been admitted 5 years ago in the Intensive Therapy Service of Antonio María Béguez Caesar Southern Teaching Pediatric Hospital in Santiago de Cuba staphylococcal disease and primary amenorrhoea. This time she attended the service with recurrent abdominal pain for 3 months, located in hypogastrium, accompanied by nauseas and vomits that were alleviated with the habitual analgesic ones. The pregnancy test was carried out with negative result and the echographic images suggested hematocolpus. The himenotomy was practiced and was discharged from the institution 48 hours later with favorable clinical course.

Embarazo heterotópico tubo-abdominal / Tube-Abdominal Heterotopic Pregnancy

El embarazo heterotópico es una rara gestación múltiple en donde un embarazo intrauterino coexiste con uno ectópico.La incidencia de embarazo heterotópico es de 1 cada 10 000 a 50 000 embarazos espontáneos. El aumento de los tratamientos por técnicas de reproducción asistida, ha incrementado la incidencia de embarazo heterotópico, ha llegado hasta 1 por ciento de los embarazos logrados por estas técnicas. El objetivo del trabajo es presentar el caso de una paciente con un embarazo heterotópico que resulta poco frecuente. Se presenta una paciente de 32 años, primípara, con antecedentes de salud que acudió por amenorrea de 10,2 semanas, dolor en bajo vientre con intensificación y sangramiento genital a manchas oscuras persistente. En el examen físico se constata un útero aumentado de tamaño que coincide con la amenorrea y el fondo de saco de Douglas abombado y doloroso. El examen ultrasonográfico fue concluyente en el diagnóstico de embarazo heterotópico. Se realizó una laparotomía y una salpingectomía total izquierda y exéresis de la placenta. El posoperatorio inmediato fue satisfactorio; el ultrasonido realizado tres semanas después, mostró la existencia de un embrión intrauterino de aproximadamente 12 semanas, vivo. La paciente fue seguida en consulta de Obstetricia y tuvo un parto eutócico a las 36,2 semanas con recién nacido vivo, en buen estado y bajo peso(AU)

Heterotopic pregnancy is a rare multiple pregnancy where an intrauterine pregnancy coexists with an ectopic pregnancy. The incidence of heterotopic pregnancy is 1 in 10,000 to 50,000 spontaneous pregnancies. The increase of assisted reproductive techniques has increased the incidence of heterotopic pregnancy, up to 1 % of the pregnancies achieved by these techniques. The objective of this study is to present the case of a patient with a heterotopic pregnancy that is rare. We present a 32-year-old female patient, primiparous, with a history of health. She came to consultation due to 10.2-week amenorrhea, low pain with intensification and genital persistent dark bleeding. The physical examination shows an enlarged uterus that coincides with amenorrhea and the plump and painful the bottom of Douglas sac. Ultrasonography was conclusive in the diagnosis of heterotopic pregnancy. A laparotomy and total left salpingectomy and excision of the placenta were performed. The immediate postoperative was satisfactory. The ultrasound performed three weeks later showed the existence of an intrauterine alive embryo of approximately 12 weeks. The patient was followed in consultation with obstetrics and she had a eutocic delivery at 36.2 weeks with alive newborn, in good condition and underweight(AU)

Mayer-Rokitansky-Kuster-Hauser Type I Syndrome - A Case Report.

Mayer-Rokitansky-Kuster-Hauser (MRKH) Syndrome is not uncommon as this is a part of the Mullerian agenesis. This is usually diagnosed during adolescent period when signs and symptoms of the ongoing changes in female body type are delayed. We present 17 years old adolescent female who presented with primary amenorrhoea as the normal menstruation did not start at puberty. She was diagnosed as MRKH Type I Syndrome on the basis of radiological investigations.

Androgen insensitivity syndrome – A case report.

Androgen insensitivity syndrome (AIS), formerly known as testicular feminization, is an X-linked recessive condition resulting in a failure of normal masculinisation of the external genitalia in chromosomally male individuals. It affects 2 to 5 per 100,000 people who are genetically male. A case of Androgen insensitivity syndrome is reported in a 20 year-old married woman, who presented with a history of primary amenorrhea. Her karyotype report revealed a male karyotype (46XY). Transvaginal sonography revealed absence of cervix, uterus and ovaries. Ultrasound of abdomen pelvis reported – bilateral inguinal testes. Bilateral inguinal gonadectomy was done. Histopathology of the gonads revealed seminiferous tubules lined by germ cells exhibiting various stages of normal spermatogenesis. She was treated with hormonal replacement therapy.

Low dose mifepristone in medical management of uterine leiomyoma - An experience from a tertiary care hospital from north India.

Background & objectives: Uterine myoma is a common indication for hysterectomy in India. An effective medical treatment option may reduce hysterectomy associated morbidity. This study was undertaken to evaluate efficacy and safety of low dose mifepristone in medical management of myoma and to compare two doses - 10 vs. 25 mg/day. Methods: In this randomized clinical trial, women with symptomatic myoma or myoma>5cm were included. Uterine size >20 wk, fibroids >15 cm were excluded. Pictorial blood loss assessment chart (PBAC) score was used to assess menstrual-blood-loss and visual analog scale (VAS) for other symptoms. Haemogram, liver function test, ultrasound with doppler and endometrial histology was performed. Patients were randomized and were given oral mifepristone as 25 mg/day in group 1 and 10 mg/day in group 2 for 3 months. Patients were followed at 1, 3 and 6 months. Results: Seventy patients in group 1 and 73 in group 2 completed treatment. Mean PBAC score reduced from 253 to 19.8 and from 289.2 to 10.4 at 1 and 3 months in groups 1 and 2, respectively. At 3 months, 67 of 70 (95.7%) patients of group 1 and 66 of 73 (90.4%) of group 2 developed amenorrhoea which reverted after median 34 (range 4-85) days. Mean myoma volume decreased by 35.7 per cent (from 176.8 to 113.7cm3) and 22.5 per cent (from 147.6 to 114.4 cm3) at 3 months in groups 1 and 2, respectively. Side effects seen were leg cramps in 7 of 70 (10%) and 5 of 73 (6.8%) and hot-flushes in 5 of 70 (7.1%) and 5 of 73 (6.8%) in groups 1 and 2, respectively. Repeat endometrial-histopathology did not reveal any complex hyperplasia or atypia in either group. Interpretation & conclusions: Mifepristone (10 and 25 mg) caused symptomatic relief with more than 90 per cent reduction in menstrual blood. Greater myoma size reduction occured with 25 mg dose. Amenorrhoea was developed in 90-95 per cent patients which was reversible. It can be a reasonable choice for management of uterine leiomyoma as it is administered orally, cost-effective and has mild side effects.

Cervical fibroid with amenorrhoea.

Fibroid are benign common tumour in reproductive age group arises from smooth muscles cells of uterus. Incidence is about 30-50%, vary from sizes very small to big, may be one or multiple1. Fibroid usually presents with menorrhagia/menstrual irregularities, but Cervical Fibroid with amenorrhoea is very rare entity. Usually 30-40 % hysterectomy are done for fibroids. Degenerative changes can occur, hyaline is common, while in 0.5% Malignant changes may occur. While operating a huge tumour the anatomy gets disturbed , so due care for the surrounding structure is to be taken otherwise we may land up in complications. In these Huge cervical fibroid Abdominal hysterectomy was proceeded up to uterine vessels, then transverse incision was kept over the anterior vaginal wall of cervix after pushing the bladder down, & fibroid was held with myoma screw & enucleated. Then routine Hysterectomy was completed. Bilateral ureteric tracing done. So meticulous examinations with a suspicion is needed for diagnosis & management of such case.