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.

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.

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.

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.

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.