Diagnostic approach in 46, XY DSD: an endocrine society of bengal (ESB) consensus statement.

OBJECTIVES: 46, XY difference/disorder of sex development (DSD) is a relatively uncommon group of heterogeneous disorders with varying degree of underandrogenization of male genitalia. Such patients should be approached systematically to reach an aetiological diagnosis. However, we lack, at present, a clinical practice guideline on diagnostic approach in 46, XY DSD from this part of the globe. Moreover, debate persists regarding the timing and cut-offs of different hormonal tests, performed in these cases. The consensus committee consisting of 34 highly experienced endocrinologists with interest and experience in managing DSD discussed and drafted a consensus statement on the diagnostic approach to 46, XY DSD focussing on relevant history, clinical examination, biochemical evaluation, imaging and genetic analysis. CONTENT: The consensus was guided by systematic reviews of existing literature followed by discussion. An initial draft was prepared and distributed among the members. The members provided their scientific inputs, and all the relevant suggestions were incorporated. The final draft was approved by the committee members. SUMMARY: The diagnostic approach in 46, XY DSD should be multidisciplinary although coordinated by an experienced endocrinologist. We recommend formal Karyotyping, even if Y chromosome material has been detected by other methods. Meticulous history taking and thorough head-to-toe examination should initially be performed with focus on external genitalia, including location of gonads. Decision regarding hormonal and other biochemical investigations should be made according to the age and interpreted according to age-appropriate norms Although LC-MS/MS is the preferred mode of steroid hormone measurements, immunoassays, which are widely available and less expensive, are acceptable alternatives. All patients with 46, XY DSD should undergo abdominopelvic ultrasonography by a trained radiologist. MRI of the abdomen and/or laparoscopy may be used to demonstrate the Mullerian structure and/or to localize the gonads. Genetic studies, which include copy number variation (CNV) or molecular testing of a candidate gene or next generation sequencing then should be ordered in a stepwise manner depending on the clinical, biochemical, hormonal, and radiological findings. OUTLOOK: The members of the committee believe that patients with 46, XY DSD need to be approached systematically. The proposed diagnostic algorithm, provided in the consensus statement, is cost effective and when supplemented with appropriate genetic studies, may help to reach an aetiological diagnosis in majority of such cases.

Clinical assessment of obesity and insulin resistance in type 1 diabetes subjects seen at a center in Kolkata.

OBJECTIVES: Type 1 diabetes mellitus (T1DM) is characterized by a selective destruction of pancreatic beta cells. Recent data suggest a role of insulin resistance (IR) along with the deficient insulin reserve. METHODS: Fifty-eight consecutive patients of T1DM, with low C-peptide levels were included. Patients with an obvious secondary cause like steroid therapy, fibrocalculous pancreatic disease, chronic infections or comorbid illness were excluded. A clinical assessment for the presence of obesity was made based on anthropometric data. Clinical markers of IR and the insulin dose required to achieve a stable glycemic control calculated in terms of body weight were also studied. RESULTS: There were 30 males and 28 females with a mean age of 16.5 +/- 2.3 (5-39) years. The mean body mass index (BMI) was 19.21 +/- 3.7 and the waist circumference was 67 +/- 5.2 cms. Nineteen ( 32.75%) and six (10.34%) patients were overweight (BMI > 23) and obese (BMI > 27) respectively while 16 (27.58%) had abdominal obesity. The body fat percentage was high (> 25%) in 34 (58.62%), mean 28.33 +/- 11.4%. Acanthosis nigricans was found in 14 (24.13%) cases, hypertension in two (3.4%) but none of the girls had clinical polycystic ovarian syndrome (PCOS). The insulin dose required was 1.11 +/- 0.41 u/kg (0.3-2.9) at an glycated haemoglobin A1C (A1C) of 7.56 +/- 1.04% (4.9-9.3), it was more than 0.6 u/kg/day in 38 (65.51%) patients. CONCLUSIONS: The study concludes that IR is present in a large number of Indian T1DM patients along with a high body fat percentage.

A study on endocrine changes in patients in intensive care unit.

Pattern of endocrine changes in moderate to severely ill patients in a medical intensive care unit, correlation with the severity of illness and whether these changes can predict outcome of the critically ill patients were evaluated and studied in 80 patients admitted with acute physiology and chronic health evaluation (APACHE) II score >10 and without any pre-existing endocrinopathies or on drugs likely to affect the endocrine axis. Adrenal insufficiency was present in 45%, and mortality was higher in those with lower (<15 microg/dl) and higher (>30 microg/dl) serum cortisol. Sick euthyroid syndrome was detected in 80%, and those with low mean T3 (<0.6 ng/ml), free T4 (<0.89 ng/dl) and total T4 (<4 microg/dl) and had increased mortality. Hypotestosteronaemia was found in 92% of men and was significantly associated with severity of illness in men. Though prolactin is the first hormone to be elevated, there was no correlation between prolactin and severity of illness or mortality.

Fine needle aspiration cytology of thyroid gland and histopathological correlation--revisited.

Fine needle aspiration of the thyroid gland, followed by cytological studies and their correlation with histopathological diagnosis have been undertaken to assess the effectiveness of fine needle aspiration cytology in diagnosing disorders of this gland. The cases in which discrepancies had arisen between these two methods of diagnosis have also been reviewed. Out of the total 100 patients studied, 28 were cases of simple colloid goitre, 17 of adenomatoid goitre, 10 of autoimmune thyroiditis ranging from lymphocytic thyroiditis to Hashimoto's thyroiditis, 28 of follicular neoplasia, 10 of papillary carcinoma, one of medullary carcinoma, 2 of anaplastic carcinoma and 4 of cystic lesions of the thyroid gland. Although, fine needle aspiration cytology of the thyroid gland was diagnostic in 75% of cases, it did not correlate with the histopathological diagnosis in the remaining 25% of cases. Possible reasons behind these discrepancies have been discussed.