A case report on acrania with omphalocele

Congenital/fetal malformations are structural, functional, and/or biochemical molecular defects present at birth. Prevalence of congenital fetal anomalies in developing countries are 2 to 3% of newborns and about 94% of severe birth defects. Acrania is a lethal congenital malformation characterized by partial or complete absence of flat bones in cranial vault. Another anomaly, omphalocele, a ventral defect of the umbilical ring resulting in herniation of the abdominal viscera, is one of the most common congenital abdominal wall defects seen in the newborn. Omphalocele is associated with trisomy. Incidence of acrania in India 1.4 to 2 per 1000 births. Incidence of omphalocele 1 in 4000 births. a case of 29-year-old, G2P1L1 with 14 weeks 2 days of gestation attended OPD with ultrasonographic report showing acrania with omphalocele. The sonographic scan revealed fully developed fetal brain having no calvarium. The brain was covered by a thin membranous structure. Facial structures showing frog eye appearance, open spina bifida. Normal and well-coordinated movements were noted in in the fetal body parts. The fetal abdomen showed a central mass protruding out from anterior abdominal wall. The mass is covered by a membrane and contains small intestines. There was direct insertion of the umbilical cord into the midline of omphalocele. Patient was counselled regarding fetal condition and its outcome. Patient was willing for termination. Medical termination of pregnancy was done. A single dead female fetus of fetus and placental weighing of 250 gm.

Comparative study of endometrial thickness with transabdominal ultrasonography and pelvis in perimenopausal women presenting with abnormal uterine bleeding and correlation with its histopathological findings

Background: Heavy menstrual bleeding is the most common presenting menstrual complaint in women of perimenopausal age group. Diagnostics tests to investigate the causes of abnormal bleeding are transabdominal ultrasonography (TAS), TVS, endometrial biopsy and uterine curettage which is invasive procedure performed under anesthesia. The objectives of this study were to correlate the transabdominal ultrasonography results with the histopathological findings to discriminate normal from pathological endometrium.Methods: Comparative study including 100 perimenopausal women with abnormal uterine bleeding. Endometrial thickness was measured by TAS and then D and C was performed for all the patients.Results: Out of 100 women, (86) had normal and (14) had an abnormal endometrium. 43 were of 41-45 years and 65 patients presented with complaint of heavy menstrual bleeding. Fibroid uterus (24%) was the commonest uterine pathology detected on TAS. 53 of patients had endometrial thickness in the range 10-11.9 mm. Most common finding on HPE was secretory endometrium (44). Endometrial carcinoma was found in 1. Endometrial thickness <12mm was associated with least abnormal endometrial pathology.Conclusions: Irrespective of endometrial thickness all perimenopausal women with HMB should be subjected to TAS followed by D and C which helps in early detection and missing out of endometrial carcinoma.

A correlation of clinical, hormonal and ultrasonography features of polycystic ovarian syndrome among adolescent and reproductive age group women attending OPD in Navodaya medical college

Background: Polycystic ovarian syndrome is the most common complex endocrine disorder in women of reproductive age. It is characterized by an array of clinical, endocrinal and metabolic manifestation. Aim of this study was to examine the correlation between clinical, hormonal and ultrasonography features in women diagnosed as polycystic ovarian syndrome.Methods: A cross sectional study of 100 reproductive age group women who had irregular cycles and polycystic ovarian morphology on ultrasound. Data about the menstrual history and anthropometric measurements were collected. Clinical observations were like hirsuitism and acanthosis nigricans was noted.Results: In all 100 PCOS women were studied and analysed. The mean age was 24.27(±5.64), mean BMI was 26(±4.8). Among the PCOS women 82% had oligo menorrhoea, 38% had hirsuitism and LH:FSH ratio deranged in 37% cases. The association between women having oligomenorrhoea and obesity with PCO morphology on scan was statistically significant.Conclusions: Young women who are diagnosed as dysregulated PCO are at a high risk to develop PCOD and long term sequel such as diabetes, hypertension and infertility. Lifestyle modification is advisable for managing symptoms and preventing long term complications and have a quality life.

A rare case report of amniotic band syndrome associated with gastroschisis and limb body wall complex

The amniotic band syndrome can cause a wide range of anomalies and the most common associated anomalies include amputations, constriction bands, encephalocele, acrania, syndactyly, craniofacial defects, club feet and cleft lip. Vertebral and abdominal wall defects such as gastroschisis and scoliosis are extremely rare. A 19-year-old female, G1P0 (primi) presented to our outpatient department for her first antenatal visit at 14 weeks + 6 days’ period of gestation according to her LMP. Ultrasonography (USG) features suggestive of limb body wall complex/ amniotic band syndrome, undergone MTP after counselling. In amniotic band syndrome there is no known inheritance pattern. The prognosis in case of amniotic band syndrome is dependent on the specific anomalies present. Severe and complex malformations as seen in this case are incompatible with extra uterine life and are an indication for termination of pregnancy. This condition is diagnosable prenatally. It can also lead to lethal deformation of vital internal organs in rare cases. Because limb body wall complex is incompatible with life, early diagnosis is crucial for parental counseling.

A rare case report of Sertoli Leydig cell tumour of ovary

Sertoli-Leydig cell tumor (SLCTs) of the ovary, also known as androblastoma, is a rare neoplasm from the group of sex cord-stromal tumors of the ovary. They account for less than 0.5% of all ovarian tumors. They typically occur in young and reproductive women and the patients usually present with abdominal swelling or pain. A case of 35-year-old multiparous female presented with abdominal mass, ultrasonography revealed a large abdomino-pelvic complex solid cystic mass lesion arising from left ovary. She underwent staging laparotomy followed by total abdominal hysterectomy with left salpingo-ovariotomy and right salpingo-oopherectomy with partial omentectomy. Histopathological examination (HPE) revealed features suggestive of moderately differentiated SLCT of left ovary (with heterologous elements).

Autoinmunidad y función tiroidea en escolares de 2 regiones del Estado Mérida con deficiencia de yodo corregida

Objetivos: El presente estudio transversal fue planificado para evaluar la presencia de anticuerpo antitiroideo antiperoxidasa (ac.anti-TPO) y la función tiroidea, en dos áreas endémicas de bocio, con deficiencia de yodo corregida. Métodos: Se estudiaron 109 escolares, de ambos sexos, entre 6-12 años de edad, procedentes de Bailadores (BA=54) y Mucuchíes (MU=55). El diagnóstico de bocio se obtuvo por palpación clínica. La yoduria se determinó en 34 niños de BA y en 37 de MU, mientras que la concentración sérica de T4 libre (T4L), T3 libre (T3L), T3 total (T3T), TSH y ac.anti-TPO fueron determinadas en todos los escolares estudiados. Adicionalmente se realizó la cuantificación de T3T y ac.anti-TPO en uno de los progenitores de cada niño. Resultados: En BA, el 53,5% de los escolares presentaron bocio y en MU el 42,5%. La mediana de la excreción urinaria de yodo no fue estadísticamente diferente entre ambos grupos (BA=181 µg/L, MU=200 µg/L). La frecuencia global de detectabilidad de ac.anti-TPO en escolares fue del 45,5%, pero solo el 5% presentó seropositivad. Una concentración de ac. anti-TPO, entre 10 y 30 UI/mL, se observó en el 39% de los niños de BA y 40% en MU; 87% en adultos de BA y 54% en MU. En BA, concentraciones de ac.anti-TPO mayores de 30 UI/mL se observaron en el 10% de los niños y en el 17% de los adultos; en MU, no se observó ningún caso positivo para ac.anti-TPO en niños, mientras que en adultos la frecuencia de positividad fue del 8%. Las pruebas de función tiroidea de los escolares y de los progenitores de ambas regiones fueron similares y compatibles con estado de eufunción No hubo asociación entre la presencia de ac.anti-TPO y bocio. Conclusiones: Estos resultados indican que la corrección de la deficiencia de yodo en las áreas endémicas estudiadas se asocia con una alta frecuencia de detectabilidad de ac.anti-TPO, sin cambios en la función tiroidea.

Objective: This cross-sectional study was designed to evaluate the thyroid peroxidase autoantibody (TPO-Ab) concentrations and thyroid function in schoolchildren from two geographic regions were iodine deficiency was corrected. Methods: One hundred nine schoolchildren 6 to 12 years of age were studied: Bailadores (BA=54) and Mucuchíes (MU=55). Goiter size, urinary iodine, and serum freeT4, freeT3, total T3, TSH and TPO-Ab were measured. Total T3 and TPO-Ab were also determined in some parents. Results: Overall frequency of TPO-Ab detectability and positivity in schoolchildren were 45,5% and 5% respectively. TPO-Ab concentration ranging between 10-30 UI/mL was observed in 39% of children from BA and 40% from MU; 87% of parents from BA and 54% from MU. TPO-Ab concentration >30 UI/mL was observed in 10% of children and 17% of their parents. None of the children from MU had positive TPO-Ab, while 8% of their parents were positive. Median urinary iodine was similar in both regions (BA=181 µg/L, MU=200 µg/L). Thyroid function tests were normal in all cases. Goiter was found in 53,5% of children from BA and 42,5% from MU . No association between goiter and ac.TPO-Ab concentration was observed. Conclusions: These results suggest that in both endemic goiter regions, sufficient iodine prophylaxis by iodized salt is frequently associated with low detectable TPO-Ab levels and no changes in thyroid function.