Comparative evaluation of sonographic ovarian morphology of Indian women with polycystic ovary syndrome versus those of normal women.

OBJECTIVES: To study ovarian morphology by ultrasound in women with or without polycystic ovary syndrome (PCOS) and to establish cut-off values of these parameters in Indian women with PCOS. MATERIALS AND METHODS: A total of 119 consecutive women diagnosed PCOS and 77 apparently healthy women were enrolled. Transabdominal ultrasound examination was carried out to assess ovarian volume, stromal echogenecity, follicle number and size. Cut-off values of the above ovarian parameters with sensitivity, specificity, positive predictive value (PPV) and negative predictive values (NPV) were calculated. RESULTS: Sensitivity of 79.49% and specificity of 90.67% was achieved with a cut-off of 8 mL as ovarian volume. A cut-off value of 9 follicles to distinguish between PCOS and control women yielded a sensitivity of 82.35% and specificity of 92.0% while as a follicular size of 5 mm yielded sensitivity and specificity of 74.67% and 78.15% respectively. With all the three parameters sensitivity was 87.39% and specificity 87.84% with 92.04% PPV and 81.25% NPV. CONCLUSION: Using two or three sonographic criteria in combination improves sensitivity and helps diagnose additional patients with PCOS. Our results are at variance with the established cut-off values highlighting the fact that American Society for Reproductive Medicine consensus cut-off values are not reproducible in Indian context.

Association of polycystic ovary syndrome and Graves' disease: Is autoimmunity the link between the two diseases.

INTRODUCTION: Polycystic ovary syndrome (PCOS) is a common endocrinopathy of women of child-bearing age. Although some studies have suggested an association between PCOS and autoimmune thyroiditis, to our knowledge, only a few cases indicating association between PCOS and Graves' disease are reported. OBJECTIVE: We aim to describe this first case series of six women presenting with PCOS and Graves' disease together. MATERIALS AND METHODS: Women attending the endocrinology clinic at a tertiary care centre in north India and fulfilling the AE-PCOS criteria for diagnosis of PCOS were studied using a predefined proforma for any clinical, biochemical and imaging features of Graves' disease. RESULTS: The series consisted of six women with a mean age of 27.5 years and menarche as 12.6 years. All women were lean with mean BMI of 22.73 kg / m(2) and three out of six had waist circumference <80 cm. The mean FG score of subjects was 16.66 and average total testosterone was 77.02 ng / dl (25.0-119.64). All the patients had suppressed TSH, the average being 0.052 µIU/ml (0.01-0.15). Thyroid gland was enlarged in all clinically and on ultrasonography and imaging with (99m)Tc and/or RAIU revealed diffuse increased uptake. CONCLUSIONS: The association of a rare disorder like Graves' disease with a relatively common disorder like PCOS is unlikely to be because of a chance alone and may point to a common aetiopathogenic linkage leaving a scope for molecular characterization.

Thiamine responsive megaloblastic anemia syndrome associated with patent ductus arteriosus: First case report from Kashmir Valley of the Indian subcontinent.

Thiamine responsive megaloblastic anemia syndrome, an autosomal recessive inherited disorder characterized by a triad of anemia, diabetes mellitus and sensorineural deafness is caused by a deficiency of a thiamine transporter protein. The disorder is rare and has not been reported from our community which has high background of consanguinity. We report a six years old girl who presented with diabetes mellitus which remitted after thiamine replacement. The girl in addition had sensorineural deafness, reinopathy, atrial septal defect and megaloblastic anemia which responded to high doses of thymine. This is the first case reported from Kashmir valley and third from India. The presentation and management in such cases is discussed.

Association of subclinical hypothyroidism and phenotype, insulin resistance, and lipid parameters in young women with polycystic ovary syndrome.

OBJECTIVE: To determine whether subclinical hypothyroidism (SCH) alters the phenotype, insulin resistance, or lipid parameters in young women with polycystic ovary syndrome (PCOS). DESIGN: Prospective case-control study. SETTING: Tertiary care setting. PATIENT(S): Sixty-two young women with PCOS and SCH (group I) and 291 euthyroid women with PCOS (group II). INTERVENTION(S): Recording of clinical, biochemical, hormonal profile, and parameters of insulin resistance. MAIN OUTCOME MEASURE(S): Whether SCH has any association with clinical parameters like hirsutism, menstrual disturbances, lipid profile, and parameters of insulin sensitivity. RESULT(S): Mean (±SD) TSH was 7.13±1.28 IU/L in group I and 2.51±1.21 IU/L in group II, with comparable free triiodothyronine and free thyroxine. The two groups were comparable in age, weight, and body mass index. Parameters like blood pressure, menstrual pattern, and degree and duration of hirsutism did not differ between the two groups. Serum concentrations of triglycerides were significantly higher in the SCH group compared with controls. Plasma glucose concentrations both in fasting and after oral glucose tolerance test were similar between the two groups. Fasting insulin and other parameters of insulin resistance were not altered by SCH. CONCLUSION(S): Mild TSH elevation in the face of normal serum free triiodothyronine and free thyroxine results in a mild increase in serum lipids. Subclinical hypothyroidism is not associated with alteration in phenotypic expression and insulin resistance in young women with PCOS.

Mayer-Rokintansky-Kuster-Hauser syndrome associated with atrial septal defect, partial anomalous pulmonary venous connection and unilateral kidney--an unusual triad of anomalies.

Mayer Rokintansky-Kuster-Hauser syndrome is characterized by the congenital absence of the vagina with a variety of Müllerian duct anomalies. Because of normal sexual development, the syndrome usually remains undetected until primary amenorrhea and/or difficulty in attempting sexual intercourse result in the diagnosis. MRKHS frequently is associated with anomalies of the urinary tract (unilateral agenesis, or ectopia of one or both kidneys, horse-shoe kidney), cervico-thoracic region (asymmetric, fused or wedged vertebrae, scoliosis and Klippel-Feil anomaly), congenital cardiac defects, hearing defects, and digital anomalies of varying severity. Congenital heart diseases in the form of atrial septal defect, Holt-Oram Syndrome with or without aorticopulmonary window, pulmonary stenosis etc in association with MRKHS have been described in the literature. We present a case of MRKHS with unilateral agenesis of the kidney and atrial septal defect with partial anomalous pulmonary venous connection. This combination of anomalies has not been reported in the literature so far. The various presentations and the pathogenesis of the condition are discussed.