Background: Knowledge of the wide spectrum of the oral markers of diabetes is imperative as one frequently encounters individuals with undetected, untreated or poorly controlled diabetes. Objectives: The objective was to study the oral manifestations in type 2 diabetes mellitus (DM) and to establish an association between oral manifestations and associated microvascular and macrovascular complications. Materials and Methods: 50 cases of DM were selected who had oral complications. The control group comprised 50 age- and sex-matched diabetic patients without any oral complications. Results: Oral manifestations in DM included periodontal disease in 34%, oral candidiasis in 24%, tooth loss in 24%, oral mucosal ulcers in 22%, taste impairment in 20%, xerostomia and salivary gland hypofunction in 14%, dental caries in 24%, and burning mouth sensation in 10% cases. Fasting [(FBG) (P = 0.003)] and postprandial blood glucose [(PPBG) (P = 0.0003)] levels were significantly higher among cases. The P values for neuropathy, retinopathy, nephropathy, cardiovascular disease, dyslipidemia, and sepsis were 0.0156, 0.0241, 0.68, 0.4047, 0.0278, and 0.3149, respectively, which were significant for neuropathy, retinopathy, and dyslipidemia. Conclusions: Several oral complications are seen among diabetics. Association of oral markers in DM and microvascular complications suggests that there is a significant association between the two.

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Context: Type 2 diabetes mellitus doubles the odds of suffering from depressive illness. Co-morbid depression is associated with poorer outcomes in diabetes mellitus in terms of glycemic control, medication adherence, quality of life, physical activity, and blood pressure control. Aim: The present study aims to estimate the prevalence of depression among a consecutive group of patients with type 2 diabetes and assess its impact on glycemic and blood pressure control. Setting: Outpatient department of the endocrinology department of a university affiliated teaching hospital in north India. Subjects: Consecutive adult patients (18-65 years) with type 2 diabetes mellitus of over 5-year duration with no prior history of psychiatric illnesses or intake of anti-depressants. Materials and Methods: A semi-structured questionnaire was used for demographic data, HbA1c was obtained to assess glycemic control, and blood pressure was recorded twice during patient interview to assess blood pressure control. Depression was assessed with the Major Depression Inventory and scores obtained were classified as consistent with mild, moderate and severe depression. Data was analyzed with SPSS v16, and multiple logistical regression test was done to compare the effect of depression on glycemic control after adjusting for age and sex. Results: Of the 80 patients interviewed, 31 (38.8%) had depressive symptoms. Among them 20 (25%) had mild depression, 10 (12.5%) had moderate depression, and 1 (1.3%) had severe depression. Conclusions: Over one third of patients with type 2 diabetes mellitus of over 5-year duration had depressive symptoms. The presence of depressive symptoms was associated with a significant worsening of glycemic control.

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Brown tumors of bone are highly vascular, lytic bone lesions representing a reparative cellular process rather than a neoplastic process usually seen in patients with hyperparathyroidism. These tumors can behave aggressively and be destructive. We report a 49-year-old male patient who was admitted to our hospital with a long-term history of right shoulder and right hip pain. Multiple lytic and destructive bone lesions were found in X-ray graphy and CT images. These bone lesions mimicked multiple skeletal metastatic lesions and seemed to be those of the terminal stage of malignancy. PET scan was requested for the evaluation of FDG uptake of these lesions and to search the unknown primary tumor site. Positron emission tomography/computed tomography (PET/CT) images showed multiple hypermetabolic malignant or metastatic FDG avid bone lesions in skeletal system. However the biopsy results revealed no signs of malignancy and laboratory data showed elevated serum calcium, alkaline phosphatase, parathyroid hormone, low serum phosphate and parathyroid scintigraphy was performed. Adenoma in the left parathyroid gland was seen with Tc-99m MIBI parathyroid scintigraphy. Pathological results confirmed the diagnosis of parathyroid adenoma. Brown tumor is the potential cause of false-positive result in evaluation of a patient for unknown primary tumor or skeletal metastases with PET/CT imaging.

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Introduction: The prevalence of major depressive disorders is higher among persons with diabetes compared to the general population. These associations may be related to the increased risk of depressive symptoms in individuals with diabetes, increased risk of type 2 diabetes (T2DM) in individuals with depressive symptoms, or both. Objectives: To study the association of depression with diabetes and its complications in newly diagnosed type 2 diabetes in eastern UP. Material and Methods: Sixty cases and an equal number of age- and sex-matched controls were assessed for depression, diabetes complications, and a demography profile. Results: Depression was found in 26 (43.34%) cases, while it was present in only eight (13.33%) controls (P = 0.002). Depression correlated with the level of hyperglycemia at presentation, as measured by fasting and postprandial blood glucose (FBG and PPBG) values. The presence of diabetic nephropathy was significantly associated with depression, while the prevalence of other complications of diabetes (retinopathy and dyslipidemia), although higher among those with depression, was not statistically significant. The level of HbA1c was 8.56 ± 1.66 in the depressed versus 8.04 ± 1.88 in the non-depressed diabetics (P = 0.26). Conclusions: The association of depression with diabetes and its complications in newly diagnosed type 2 diabetics was highlighted in our subpopulation and emphasized the need for integrated health services. The prevalence of depression was higher among them compared to controls. The chances of becoming depressed increased as the diabetes complications worsened.

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Introduction: Vitamin D has a basic role in bone growth and metabolism and has been noticed for its important role in many diseases, such as diabetes, depression, hypertension, and cardiovascular disease. Regarding some studies, detection of vitamin D deficiency in different places has important implication for health. This study determined prevalence of vitamin D deficiency in Arak, a centrally located city in Iran. Materials and Methods: Based upon a cross-sectional study in 2010, 420 students 10--16 years old including 220 girls and 200 boys, studied at Arak secondary schools, were selected by a multistage sampling. The level of 25 (OH) D and PTH (parathormone) was measured and also the prevalence of vitamin D deficiency in different intensities was evaluated and compared between girls and boys by the Student t-test. Vitamin D deficiency for the students was categorized into three intensities based on three levels of 25 (OH) D: mild deficiency - 15 ≤ 25 (OH) D < 20 ng/ml, moderate deficiency -- 8 ≤ 25 (OH) < 15 ng/ml, severe deficiency - 25 (OH) <8 ng/ml. The relationship between the 25 (OH) D and PTH was assessed by Scatter chart to define cut-off points for vitamin D deficiency. Results: Based on 25 (OH) D < 20 ng/ml, 84% of the students had vitamin D deficiency including 60.7% mild, 22.4% moderate, and 0.7% severe. Three local cut-off points including 13, 21, and 33 ng/ml were defined in the Scatter chart. The results showed that the deficiency of vitamin D in girls is much more than that in boys (P = 0.05). Conclusion: The high prevalence of vitamin D deficiency could be probably a result of different etiologies. We recommended that people should be encouraged to take vitamin D and calcium supplements and also they should have more exposure to the sunlight.

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Aim: Pro- and anti-inflammatory processes are crucial in different phases of wound healing and their disturbances interfere with tissue homeostasis after the manifestation of ulcers, leading to chronic non-healing wounds. However, data on the association between infl ammation and acute foot syndrome are scarce. Materials and Methods: Circulating levels of acute-phase reactants and cytokines were measured in diabetic patients with ulcer (n = 162) and without ulcer (n = 162) in a case control study. Results: Of the patients, 85.1% had type 2 diabetes. Subjects with diabetic foot ulcer showed lower median plasma level of adiponectin [8.4 (7.1-9.2) ng/ml vs. 13.4 (12.1-14.2) ng/ml], and higher median plasma levels of interleukin-6 (IL-6) [32.5 (9.4-44.8) ng/ml vs. 6.7 (4.6-14.6) ng/ml], high-sensitivity C-reactive protein (hsCRP) [12.6 (11.2-13.6) mg/ml vs. 8.4 (7.1-9.2) mg/ml], and tumor necrosis factor-alpha (TNF-α) [99.4 (79.9-121.5) ng/ml vs. 4.9 (4.5-5.6) ng/ml]. A positive correlation was found between body mass index (BMI) (r = −0.088, P < 0.264) and retinopathy (r = 0.249, P < 0.001) for adiponectin. For IL-6, it was between grade of ulcer (r = 0.250, P < 0.001), BMI (r = −0.161, P < 0.04), low density lipoprotein-cholesterol (LDL-C) (r = −0.155, P < 0.049), triglycerides (r = −0.165, P < 0.035), retinopathy (r = −0.166, P < 0.035), nephropathy (r = −0.199, P < 0.011), and smoking (r = −0.164, P < 0.036). For hsCRP: grade of ulcer (r = 0.236, P < 0.002), BMI ( r = −0.155, P < 0.048), LDL-C ( r = −0.174, P < 0.026), triglycerides ( r = −0.216, P < 0.005), retinopathy ( r = −0.165, P < 0.037), nephropathy ( r = −0.028, P < 0.007), and smoking ( r = −0.164, P < 0.036), while total cholesterol ( r = −0.209, P < 0.007) and neuropathy (r = 0.141, P < 0.072) for TNF-α. Conclusions: This study demonstrates that diabetic subjects with various grades of diabetic foot ulcer showed a higher IL-6, hsCRP, TNF-α, and lower adiponectin plasma levels in comparison with diabetes without foot ulcer, independent of the concomitant infections. It would be interesting to fi nd out whether an activation of immune system precedes the development of foot ulcer and whether anti-infl ammatory therapies might be effective in improving the outcome in such patients.

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Constitutional delay of growth and puberty is a transient state of hypogonadotropic hypogonadism associated with prolongation of childhood phase of growth, delayed skeletal maturation, delayed and attenuated pubertal growth spurt, and relatively low insulin-like growth factor-1 secretion. In a considerable number of cases, the final adult height (Ht) does not reach the mid-parental or the predicted adult Ht for the individual, with some degree of disproportionately short trunk. In the pre-pubertal male, testosterone (T) replacement therapy can be used to induce pubertal development, accelerate growth and relieve the psychosocial complaints of the adolescents. However, some issues in the management are still unresolved. These include type, optimal timing, dose and duration of sex steroid treatment and the possible use of adjunctive or alternate therapy including: oxandrolone, aromatase inhibitors and human growth hormone.

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Objective: The aim of this study was to determine the effect of maternal anthropometry and metabolic parameters on neonatal anthropometry. Materials and Methods: This observational cross-sectional study was conducted from January 2008 to June 2009 at a single tertiary care center. Maternal anthropometry and metabolic parameters like fasting serum insulin, lipid profile, and random blood glucose were estimated in 50 pregnant women at term. Detailed anthropometry of the neonates was performed. Results:Large for gestational age (LGA) babies had higher maternal body mass index (BMI), fasting serum insulin, and cord blood insulin levels, and lower maternal high density lipoprotein (HDL) compared to appropriate for gestational age (AGA) group (P < 0.001). Among the maternal parameters, BMI, gestational age, fasting serum insulin, and random blood sugar (RBS) had significant positive correlation, while HDL had negative correlation with birth weight (P < 0.05). However, only maternal BMI was the significant predictor of neonatal birth weight on multiple regression analysis (ß = 0.340, P = 0.01). Conclusion:The BMI of glucose-tolerant mother is more important than metabolic parameters in determining the birth weight of term babies.

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The incidence of obesity has acquired an epidemic proportion throughout the globe. As a result, increasing number of obese patients is being presented to critical care units for various indications. The attending intensivist has to face numerous challenges during management of such patients. Almost all the organ systems are affected by the impact of obesity either directly or indirectly. The degree of obesity and its prolong duration are the main factors which determine the harmful effect of obesity on human body. The present article reviews few of the important clinical and critical care concerns in critically ill obese patients.

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Hypoparathyroidism is a disorder of calcium and phosphorus metabolism due to decreased secretion of parathyroid hormone. Hypoparathyroidism can be hereditary and acquired. Acquired hypoparathyroidism usually occurs following neck surgery (thyroid surgery or parathyroid surgery). Along with systemic manifestations, hypoparathyroidism produces some skin manifestations. Lack of study regarding mucocutaneous manifestations of acquired hypoparathyroidism prompted us to undertake this study. To evaluate the mucocutaneous manifestations of acquired hypoparathyroidism. An observational study done in a tertiary care hospital of Kolkata by comprehensive history taking, through clinical examination and relevant laboratory investigations. Twenty-one patients were included in the study. The commonest form of acquired hypoparathyroidism was neck surgery (thyroidectomy and parathyroidectomy operation). Mucocutaneous manifestations were present in 76.19% of patients. The most frequent mucocutaneous manifestation was found in the hairs like the loss of axillary hair (61.9%), loss of pubic hair (52.38%), coarsening of body hair (47.62%), and alopecia areata (9.52%). The nail changes noted were brittle and ridged nail, followed by onycholysis, onychosezia, and onychomedesis. The most common skin features were xerotic skin in 11 patients (52.38%), followed by pellagra-like skin pigmentation, pustular psoriasis and acne form eruption, bullous impetigo, etc. Mucosa was normal in all the cases excepting the one which showed oral candidiasis.

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Background : Type 1 diabetes mellitus (T1DM) may lead to severe long-term health consequences, such as renal failure, blindness, as well as heart and cerebrovascular disease. Although a direct relationship between blood glucose control and diabetes complications remains to be established beyond doubt, most diabetologists aim to achieve the best possible glucose control in their patients with T1DM. The aim of this study was to detect the predictors of glycemic control among children with T1DM in Assiut Governorate-Egypt. Materials and Methods : We enrolled 415 children aged 2 to 18 years with type 1 diabetes of >1-year duration. They were subjected to full history including demographic factors and disease-related factors. Examination was done with determination of the body mass index, and assessment of stage of maturity. Investigations included hemoglobin A1c (HbA1c) and lipid profile. Patients with HbA1c above the recommended values for age by the American Diabetes Association were considered as poor glycemic control group. Results : Of the studied cases, 190 cases (45.8%) were of poor glycemic control. Patients with poor control had significantly higher mean age (16.83 ± 3.3 vs 9.77 ± 3.7, P<0.000). Girls aged 15 years or more had significantly higher prevalence of poor glycemic control than males of the same age group. As regard the disease-related factors, patients with poor control had significantly longer duration of disease (7.94 ± 2.6 vs 2.40 ± 2.0, P<0.000) and were older in age at onset of disease. Insulin regimen which consists of basal bolus insulin plus three injections of regular insulin was associated with more frequency of good glycemic control than other regimens. Patients with poor control had significantly higher mean of cholesterol, triglyceride (TG), high-density lipoprotein cholesterol, and low-density lipoprotein cholesterol than patients with good control. Adjusting for other variables, age of the patients, duration of disease, and serum TG level were significant independent risk factors of poor glycemic control. Conclusions : This study concluded that children more than 15 years, duration of disease more than 5 years, and high serum TG level are the predictors of poor glycemic control of children with T1DM in Assiut - Egypt. Pediatricians need to be aware of factors associated with poor glycemic control in children with T1DM, so that more effective measures can be implemented to prevent deterioration in diabetes control .

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Background: It was formerly believed that since fibrocalculous pancreatic diabetes (FCPD) is a secondary form of diabetes, specific diabetic complications were uncommon. This is no longer considered to be true. Our objective was to study the prevalence and pattern of cardiac autonomic neuropathy (CAN) in patients with FCPD. Materials and Methods: A cross-sectional study on consecutive male patients with FCPD was performed. Using an automated CAN System Analyzer, heart rate response to deep breathing, Valsalva maneuver, standing and blood pressure response to standing were measured. The standard Ewing's criteria were used to define normal, borderline, and abnormal values. Prevalence rates were calculated and the patients were defined to have normal autonomic function, parasympathetic, sympathetic, and combined dysfunction. Results: The prevalence of CAN in this study population was 63.3%. Isolated parasympathetic dysfunction (42.3%) was the most common abnormality. Combined sympathetic and parasympathetic dysfunction was noted in 13.3% of patients. Isolated borderline dysfunction was noted among 13.3% of patients. CAN was detected in six patients with a duration of diabetes of less than 1 year after diagnosis. Patients with autonomic dysfunction were found to have a lower body mass index (BMI) and low density lipoprotein (LDL)-cholesterol when compared to those with normal autonomic functions, which was not statistically significant. Conclusion: The prevalence of abnormal cardiac autonomic function is as high as 63.3% in the present study population which warrants regular screening of patients with FCPD for autonomic dysfunction. Patients with FCPD and autonomic dysfunction were found to have a lower BMI and lower LDL-cholesterol, which may be indicators of malnutrition in the group with autonomic dysfunction. Whether this malnutrition contributes to autonomic dysfunction needs further exploration.

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A 16-year-old girl presented with primary amenorrhea and excess hair growth on her body and face for the last three years, along with pain and a mass in her lower abdomen for last one year. Examination revealed hirsutism and other virilizing features, with an irregular mass in the lower abdomen corresponding to 16 weeks'gestation. Serum testosterone was 320 ng / dl and ultrasonogram of the pelvis revealed a solid mass of 5 × 4 cm in the left adnexa. Suspecting it to be a virilizing tumor of the left ovary, the patient was subjected to staging laparotomy, which revealed stage 1a ovarian involvement amenable to surgical resection alone. Histopathological examination confirmed the diagnosis of granulosa cell tumor of the ovary. Postoperatively the serum testosterone returned to 40 ng / dl and her menstrual cycle started after two months of surgery.

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Introduction: Celiac disease (CD) is a highly prevalent autoimmune disease. The symptoms of CD are varied and atypical, with many patients having no gastrointestinal symptoms. Metabolic bone disease (MBD) is a less recognized manifestation of CD associated with spectrum of musculoskeletal signs and symptoms, viz. bone pains, proximal muscle weakness, osteopenia, osteoporosis, and fracture. We here report five patients who presented with severe MBD as the only manifestation of CD. Materials and Methods: Records of 825 patients of CD diagnosed during 2002-2010 were retrospectively analyzed for clinical features, risk factors, signs, biochemical, and radiological parameters. Results: We were able to identify five patients (0.6%) of CD who had monosymptomatic presentation with musculoskeletal symptoms and signs in the form of bone pains, proximal myopathy, and fragility fractures without any gastrointestinal manifestation. All the five patients had severe MBD in the form of osteopenia, osteoporosis, and fragility fractures. Four of the five patients had additional risk factors such as antiepileptic drugs, chronic alcohol consumption, malnutrition, and associated vitamin D deficiency which might have contributed to the severity of MBD. Conclusion: Severe metabolic disease as the only presentation of CD is rare. Patients show significant improvement in clinical, biochemical, and radiological parameters with gluten-free diet, calcium, and vitamin D supplementation. CD should be looked for routinely in patients presenting with unexplained MBD.

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Low renin hypertension is an important and often underdiagnosed cause of hypertension. It may be associated with high aldosterone levels as in Conn's syndrome or low aldosterone levels as in Liddle syndrome, and syndrome of apparent mineralocorticoid excess, glucocorticoid remediable hypertension etc. Some forms of essential hypertension are also associated with low renin levels. Hypokalemia may be an important finding in low renin hypertension. The aldosterone to renin ratio helps in correct diagnosis. The treatment varies with etiology hence an accurate diagnosis is essential. Aldosterone antagonists play an important role in medical management of some varieties of low renin hypertension.

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Accurate investigation of the hypothalamic-pituitary area is required in pediatric patients for diagnosis of endocrine-related disorders. These disorders include hypopituitarism, growth failure, diencephalic syndrome, delayed puberty, precocious puberty, diabetes insipidus, syndrome of inappropriate antidiuretic hormone (SIADH) secretion, and hyperpituitarism. Magnetic resonance imaging (MRI) is the modality of choice to visualize hypothalamic-pituitary axis and associated endocrinopathies. Neuroimaging can be normal or disclose abnormalities related to pituitary-hypothalamic axis like (i) congenital and developmental malformations; (ii) tumors; (iii) cystic lesions; and (iv) infectious and inflammatory conditions. Classical midline anomalies like septo-optic dysplasias or corpus callosum agenesis are commonly associated with pituitary endocrinopathies and also need careful evaluation. In this radiological review, we will discuss neuroendocrine disorders related to hypothalamic pituitary-axis.

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Gonadal (ovarian) dysgenesis with normal chromosomes (46, XX), XX female gonadal dysgenesis (XX-GD) is a rare genetically heterogeneous disorder. In 1951, Perrault reported the association of gonadal dysgenesis and deafness, now referred to as Perrault syndrome. Perrault syndrome is a rare autosomal recessive condition affecting both females and males, only females have gonadal dysgenesis associated with sensorineural deafness which is present in both sexes. We present a case of Sporadic Perrault syndrome in a 35-year-old female with primary amenorrhea, sensorineural deafness, marfanoid features, and normal karyotype. There are very few case reports describing the condition, even lesser reports of association with marfanoid habitus. We report this case for its rarity and add to the spectrum of the disease that remains undetermined.

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Objectives: There is paucity of information regarding clinical profile of hypopituitarism from India. We report the clinical profile of hypopituitarism from a tertiary center in North India. Materials and Methods: This study was carried out in patients attending our endocrine center between January 2010 and December 2011. All new patients were studied prospectively and those registered before January 2010 retrospectively. Relevant clinical, hormonal, and imaging data were collected. Dynamic testing for pituitary functions was carried out as necessary. Hormonal deficiencies were defined as per prevailing recommendations. Results: This study included 113 subjects. The mean age was 38.6 ± 17.8 years (range, 4 - 76 years). There were 78 (69%) males and 35 females (31%). There were 22 subjects aged ≤18 years (childhood and adolescence) and 91 adults (>18 years). Visual disturbances were the most common presenting complaint (33%), though headache was the most common symptom (81%). Fifteen percent presented with pituitary apoplexy. Tumors comprised of 84% of cases. Hypogonadism (97%) was the most common abnormality seen followed by hypothyroidism (83.2%), hypoadrenalism (79.6%), growth hormone deficiency (88.1% of the 42 patients tested), and diabetes insipidus (13.3%). Panhypopituitarism was seen in 104 (92%) patients. There were no cases of hypopituitarism secondary to traumatic brain injury, subarachnoid hemorrhage, central nervous system infections, or cranial irradiation to extrasellar tumors. Conclusion: The most common cause of hypopituitarism at tertiary care center is pituitary tumors and the commonest presenting complaint is visual symptoms. Panhypopituitarism is present in 92% cases.

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A 6 years male child was referred to our Endocrinology clinic with complaints of failure to thrive and he displayed the characteristic features of Russell Silver Syndrome which included short stature, relative macrocephaly, triangular facies and bilateral clinodactyly. He had a birth weight of 2.14 kg and an expected target height of 170 cm. He was subjected to a hormonal analysis which revealed a normal thyroid profile, but low serum markers of growth namely IGF-1=68 ng/ml (52-297 ng/ml) and basal growth hormone (GH) (1.5 μg/l). No defects were detected on MRI of the sella. Therefore a growth hormone stimulation test with Clonidine was performed which confirmed complete GH deficiency (at 0 min=0.16 μg/l, 60 min=0.27 μg/l, 120 min=4.73 μg/l). He was commenced on rhGH therapy at 8 years of age (height=102 cm, SDS=-4.53), due to financial restraints. Following initiation of GH therapy (1.5 IU/day) for 19 months, a height gain of 15 cm was obtained (Height=117 cm, SDS=-3.05). Bone age at 9 yr. was between 7-8 years.

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Primary Sjögren's syndrome (pSS) is a chronic autoimmune disease characterized by a progressive lymphocytic infiltration of the exocrine glands with varying degrees of systemic involvement. Overt or latent renal tubular acidosis (RTA), caused by tubulointerstitial nephropathy, is a common extraglandular manifestation of pSS. Hypokalemic paralysis is a well known, albeit rare complication of severe distal RTA from any cause. Cases of pSS manifesting for the first time as hypokalemic paralysis caused by distal RTA have been rarely reported. We herein present our experience of two cases, who presented to us for evaluation of hypokalemic paralysis and on work up found evidence of distal RTA, which on further work up found to be secondary to pSS. A high index of suspicion for pSS should be kept in all patients with hypokalemic paralysis.

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Short stature can be a sign of disease, disability, and social stigma causing psychological stress. It is important to have an early diagnosis and treatment. Short stature may result from skeletal dysplasias, endocrine disorders, may be familial, or may be the result of malnutrition and chronic illnesses. A team effort of the healthcare professionals like pediatricians, endocrinologists, radiologists, and pathologists is required to diagnose, treat and monitor various pathological conditions associated with growth abnormality. In this review, we have discussed the role of imaging in diagnosing and characterizing various pathological conditions associated with short stature.

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Patients with Growth Hormone Insensitivity have characteristic phenotypic features and severe short stature. The underlying basis are mutations in the growth hormone receptor gene which gives rise to a characteristic hormonal profile. Although a scoring system has been devised for the diagnosis of this disorder, it has not been indisputably validated. The massive expense incurred in the diagnosis and treatment of this condition with suboptimal therapeutic response necessitates a judicious approach in this regard in our country.

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48,XXYY is a rare sex chromosome aneuploidy affecting 1 in 18,000 to 50,000 male births. They present with developmental delay, hypogonadism, gynecomastia, intention tremors, and a spectrum of neurodevelopmental and psychiatric disorders. At one time this condition was considered a variant of Klinefelter syndrome. In clinically suspected cases, 48,XXYY syndrome can be diagnosed by chromosome culture and karyotyping. This patient presented with hypergonadotrophic hypogonadism, attention deficit hyperactive disorder, and renal malformatons. Klinefelter syndrome was clinically suspected. The karyotype confirmed the diagnosis of 48,XXYY syndrome. This is the first reported case of 48,XXYY syndrome from Sri Lanka.

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"Petrified ears" or calcification of auricular cartilage is an uncommonly reported condition. The most common causes of this phenomenon are local trauma, frost bite, and inflammation. Adrenal insufficiency is the most frequent systemic disease associated with auricular calcification. We present a case of idiopathic adult-onset pituitary insufficiency with hypocortisolism and bilateral auricular calcification. Recognition of the association between auricular calcification and adrenal insufficiency can be an important step toward the identification of a life-threatening cortisol deficiency.

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We report a case of 41-year-old lady who presented with chronic headache of 6-month duration and a sellar mass with a suprasellar extension on imaging, which was interpreted as pituitary macroadenoma. She had normal pituitary function and visual perimetry. On clinical examination and imaging it was provisionally diagnosed as pituitary incidentaloma due to hypophysitis and she was advised steroid therapy, but underwent transnasal resection of the tumor against suggestion. Histopathological examination revealed combined granulomatous and lymphocytic hypophysitis most likely of autoimmune in origin. Definitive diagnosis of hypophysitis can be made only on histopathological examination. As most cases of autoimmune hypophysitis are surgically treated, patients should be assessed on individual basis for requirement of steroids in postoperative period.

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Objectives: The aim was to determine the degree of linear growth retardation of patients with congenital acyanotic heart disease at presentation and the magnitude of catch-up growth, if any, in relation to their echocardiographic changes and insulin-like growth factor- I (IGF-I) concentration before versus after surgical intervention. Materials and Methods: This prospective study recorded the anthropometric data and measured the circulating IGF-I, free thyroxin (FT4), and thyrotropin (TSH) of 27 infants and children with congenital acyanotic heart disease with left to right shunt (10 with VSD, 8 with ASD, 9 PDA) without heart failure, or severe pulmonary hypertension, before and 12 months or more after surgical or catheter intervention. Eighty normal age and sex- matched normal siblings of these patients were included as controls for the auxologic data. Results: At presentation, patients' mean age = 35.6 ± 26 months, height SDS (HtSDS) = -1.6 ± 1.1, and body mass index (BMI) = 15.1 ± 2.5. They were significantly shorter and with lower BMI compared to normal controls (HtSDS = 0.25 ± 0.3, BMI = 16.4 ± 1.5). One year or more after catheter or surgical treatment, the HtSDS and BMI increased significantly in patients to -0.55 ± 0.9 and 15.9 ± 1.5, respectively). IGF-I levels increased from 46.8 ± 29 mcg/L before to 77.3 ± 47.6 mcg/L after intervention. No significant change has been detected in circulating FT4 or TSH concentrations. The HtSDS after treatment was correlated with the IGF-I concentration (r = 0.804, P < 0.001). The change in the HtSDS after intervention was correlated significantly with BMI (r = 0.594, P 0.001) and negatively with age (r = -0.52, P< 0.01). The shunt size was correlated negatively with BMI and HtSDS before intervention (r = -0.35, P < 0.01 and 0.01 and r = -0.461, P < 0.05, respectively). GVSDS after intervention surgery was correlated with BMI after intervention (r = 0.495, P < 0.001) and negatively with the age at operation (r = -0.683, P < 0.001). Conclusions: In congenital acyanotic heart diseases, early surgical interference and weight gain have beneficial effect on postoperative growth spurt. This catch-up growth appears to be mediated through activation of the GH/IGF-I system and suggests an important role of increasing BMI (an indicator of nutrition) as an imperative factor.

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Endocrine emergencies pose unique challenges for the attending intensivist while managing critically ill patients. Besides taking care of primary disease state, one has to divert an equal attention to the possible associated endocrinopathies also. One of the common reasons for inability to timely diagnose an endocrinal failure in critically ill patients being the dominance of other severe systemic diseases and their clinical presentation. The timely diagnosis and administration of therapeutic interventions for these endocrine disorders can improve the outcome in critically ill patients. The timely diagnosis and administration of timely therapeutics in common endocrine disorders like severe thyroid disease, acute adrenal insufficiency and diabetic ketoacidosis significantly influence the outcome and prognosis. Careful evaluation of clinical history and a high degree of suspicion are the corner stone to diagnose such problems. Aggressive management of the patient is equally important as the complications are devastating and can prove highly fatal. The present article is an attempt to review some of the common endocrine emergencies in intensive care unit and the challenges associated with their diagnosis and management.

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Kenny-Caffey syndrome type 1 (KCS1) (OMIM 244460) is a rare syndrome characterized by growth retardation, uniformly small slender long bones with medullary stenosis, thickened cortex of the long bones, hypocalcemia possibly with tetany at an early age and normal intelligence. The primary outcome of KCS1 is short stature. We present here an Egyptian girl aged 32 months with typical feature of KCS1.

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In endocrine hypertension, hormonal excess results in clinically significant hypertension. The functional imaging (such as radionuclide imaging) complements anatomy-based imaging (such as ultrasound, computed tomography, and magnetic resonance imaging) to facilitate diagnostic localization of a lesion causing endocrine hypertension. The aim of this review article is to familiarize general radiologists, endocrinologists, and clinicians with various anatomical and functional imaging techniques used in patients with endocrine hypertension.

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Two short siblings who were brought for evaluation of short stature are described with emphasis on availability of resources in the diagnosis and management of the cause of short stature in them.

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We report a rare case of an adult with advanced liver failure in the setting of an untreated congenital panhypopituitarism. A 32-years-old man presented with a newly onset seizure episode secondary to hypoglycemia. In the initial exploration, we found eunuchoid habitus, absence of secondary sexual characteristics, ascites, and hepatic encephalopathy. Hormonal evaluation confirmed the absence of anterior hypophyseal hormones and the liver function tests showed derangement of liver function. Magnetic Resonance Imaging (MRI) showed hypoplastic adenohypophysis and ectopic posterior pituitary gland. In the approach to liver disease, no cause was identified, besides the untreated panhypopituitarism.

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Prolactinomas are common pituitary tumors usually highly responsive to dopamine agonists. Around 70-90% of the prolactinomas exhibit decrease in tumor size, though variably with these agents. Uncommonly, there may be little or no shrinkage in pituitary tumor. In the absence of medical therapy, pituitary apoplexy may also result in tumor shrinkage, albeit rarely. We report here a case showing only modest reduction in prolactinoma with cabergoline given for a period of one and a half years. Surprisingly, this tumor showed a 40% reduction in the tumor size 3 months after cabergoline withdrawal in the absence of clinical or radiological evidence of apoplexy.

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Objective: To investigate the presence of atherogenic factors among preschool children of Crete, Greece. Materials and Methods: This was a cross-sectional study. The study population included 1189 children, aged four to seven years, examined from January to May 2005, in public kindergartens. Biochemical, anthropometric, and blood pressure measurements were performed. Results: Of the boys 27.4% were classified as overweight or obese (obese 10.8%). The respective percentage for girls was 28.5% (obese 9%); 7.4% percent of the boys and 7.9% of the girls had blood pressure above the ninety-fifth percentile. TC of > 200 mg / dl was found in 14.4% and LDL-C of > 130 mg / dl in 13.8% of the children. Children with serum TG of > 100 mg / dl had a significantly higher mean WC and BMI than those with triglyceride levels of ≤ 80 mg / dl (59.7 vs. 55.9 cm and 17.9 vs. 16.6 kg / m ² ; P < 0.05). Similarly, children with HDL-C < 45 mg / dl had significantly higher WC and BMI than children with HDL-C ≥ 60 mg / dl (57.7 vs. 53.5 cm and 17.1 vs. 16.5 kg / m ² ; P < 0.05). Obese children had an Odds Ratio of 2.87 (95% confidence interval, 1.05 − 7.85, P = 0.041) for hypertriglyceridemia, as compared to non-obese children. Conclusion: Levels of obesity and especially central obesity were strongly related to other atherogenic risk factors in Cretan preschool children indicating the presence of this major public health problem in early ages.

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Endocrine hypertension forms a small (< 5%) but curable subset of patients with hypertension. Common endocrine causes of hypertension include pheochromocytoma, Cushing's syndrome, primary hyperaldosteronism, and thyroid disorders. Nuclear medicine imaging plays an important role in evaluation of patients with endocrine hypertension. It has established role in patients of pheochromocytoma/paraganglioma, Cushing's syndrome, aldosteronism, and thyroid disorders. We present a brief overview of role of nuclear medicine imaging in endocrine hypertension. Development of newer radiotracers might further broaden the role of nuclear medicine in these patients.

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