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PURPOSE: Baseline renal dysfunction predicts mortality in primary hyperparathyroidism (PHPT). However, it remains controversial whether renal insufficiency in PHPT is due to disease severity alone or other risk factors. This study aimed to explore the association of clinico-biochemical variables with renal dysfunction [estimated glomerular filtration rate (eGFR) < 60 ml/min/m2] in PHPT. METHODS: A total of 112 patients of PHPT were selected and divided into following subgroups: renal dysfunction (n = 28) and normal renal function (n = 84). Demographic characteristics, traditional risk factors, phenotypes of PHPT based on target organ involvement, and biochemical parameters were compared between these subgroups. RESULTS: Patient subgroups of PHPT with and without renal dysfunction had similar age, frequency of diabetes, and hypertension. Renal dysfunction was more prevalent in males (p < 0.05). Compared to normal renal function subgroup, individuals with renal dysfunction had higher serum levels of calcium, phosphate, alkaline phosphatase, intact parathormone (all p < 0.05), while having lower hemoglobin levels (p < 0.05) and higher nephrolithiasis rates (p < 0.05). Multiple regression analysis revealed that nephrolithiasis, serum calcium-phosphorous product (CaxP), parathormone levels were positively associated with baseline renal dysfunction (all p < 0.01). A baseline PTH > 456 pg/mL and CaxP > 30.0 mg2/dl2 could discriminate renal dysfunction from normal renal function with sensitivity and specificity of 75% and 74.5% and 92.6% and 74.4%, respectively. CONCLUSION: Renal dysfunction was associated with presence of nephrolithiasis, elevated serum CaxP and PTH levels in our cohort with predominantly symptomatic PHPT, indicating an association with the underlying disease itself. Serum CaxP may additionally be appraised during risk assessment in PHPT.
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Fosfatos de Cálcio , Hipercalcemia , Hiperparatireoidismo Primário , Nefrolitíase , Masculino , Humanos , Cálcio , Fosfatos , Nefrolitíase/complicações , Hormônio ParatireóideoRESUMO
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.
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Transtorno 46,XY do Desenvolvimento Sexual , Transtornos do Desenvolvimento Sexual , Humanos , Masculino , Transtornos do Desenvolvimento Sexual/diagnóstico , Transtornos do Desenvolvimento Sexual/genética , Cromatografia Líquida , Variações do Número de Cópias de DNA , Espectrometria de Massas em Tandem , Transtorno 46,XY do Desenvolvimento Sexual/genéticaRESUMO
Diabetic kidney disease (DKD) occurs in approximately 20-40% of patients with type 2 diabetes mellitus. Patients with DKD have a higher risk of cardiovascular and all-cause mortality. Angiotensin-converting enzyme inhibitors or angiotensin receptor blockers and antihyperglycemic drugs form the mainstay of DKD management and aim to restrict progression to more severe stages of DKD. Sodium-glucose cotransporter 2 inhibitors (SGLT2i) control hyperglycemia by blocking renal glucose reabsorption in addition to preventing inflammation, thereby improving endothelial function and reducing oxidative stress; consequently, this class of prescription medicines is emerging as an important addition to the therapeutic armamentarium. The EMPA-REG OUTCOME, DECLARE TIMI 58, and CANVAS trials demonstrated the renoprotective effects of SGLT2i, such as restricting decline in glomerular filtration rate, in the progression of albuminuria, and in death due to renal causes. The renoprotection provided by SGLT2i was further confirmed in the CREDENCE study, which showed a 30% reduction in progression of chronic kidney disease, and in the DELIGHT study, which demonstrated a reduction in albuminuria with dapagliflozin compared with placebo (- 21.0%, confidence interval [CI] - 34.1 to - 5.2, p = 0.011). Furthermore, a meta-analysis demonstrated a reduced risk of dialysis, transplantation, or death due to kidney disease (relative risk 0.67; 95% CI 0.52-0.86; p = 0.0019) and a 45% risk reduction in worsening of renal function, end-stage renal disease, or renal death (hazard ratio 0.55, CI 0.48-0.64, p < 0.0001) with SGLT2i, irrespective of baseline estimated glomerular filtration rate. Thus, there is emerging evidence that SGLT2i may be used to curb the mortality and improve the quality of life in patients with DKD. However, clinicians need to effectively select candidates for SGLT2i therapy. In this consensus statement, we have qualitatively synthesized evidence demonstrating the renal effects of SGLT2i and proposed recommendations for optimal use of SGLT2i to effectively manage and delay progression of DKD.
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AIMS: Common psycho-social emotional reactions of patients with diabetes may be termed as diabetes-specific distress which is conceptually distinctive from depression. In patients with type 2 diabetes, different screening methods for depression may get influenced by simultaneous presence of diabetes distress. This study was planned to assess magnitude and relationship of depression and diabetes specific distress in patients with type 2 diabetes. METHODS: Two hundred and fifty (250) adult patients with type 2 diabetes (T2DM) were assessed for depression based on Beck Depression Inventory (BDI) and Diagnostic and Statistical Manual, Fourth edition (DSM IV) criteria. Diabetes specific distress was assessed as per Diabetes Distress Scale (DDS) score. RESULTS: Among study population of 250 adult T2DM patients, based on BDI score, 97 (38.8%) patients were found to suffer from depression and based on DSM IV criteria, prevalence of depression was 29.2%. A total of 62 (24.8%) patients were found to suffer from diabetes specific distress based on DDS score. Patients with severe diabetes specific distress had associated matching of symptoms with mild depression based on BDI score which was also statistically significant (pâ¯<â¯0.0001). However, these same individuals were non-depressed as per DSM-IV criteria. CONCLUSION: Recognizing depression with self-administered questionnaires may be influenced by concomitant presence of symptoms due to diabetes specific distress. Therefore, proper diagnosis of depression may be established by structured clinical interview and psycho-social management of type 2 diabetes should possibly include both assessment of depression and diabetes specific distress.
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Depressão/etiologia , Diabetes Mellitus Tipo 2/psicologia , Adolescente , Adulto , Estudos Transversais , Diabetes Mellitus Tipo 2/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prevalência , Inquéritos e Questionários , Adulto JovemRESUMO
A 6½â years Indian boy was brought by his parents, who were anxious about the excessive increase in the size of the boy's phallus, from the age of 2â years. On physical examination, the child had a penis length greater than the 97th centile for age, a sexual maturity rating of gonads at stage 2 and pubic hair at stage 3, with height in the high normal range (90-97th centile). The bone age was 12â years. Laboratory evaluation showed pubertal levels of testosterone and pubertal gonadotropin response to stimulation, confirming central precocious puberty (CPP). Incidentally, the hormonal profile also suggested congenital adrenal hyperplasia (CAH). This case report depicts a case of CPP probably caused by CAH in boys, which is rare.
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Hiperplasia Suprarrenal Congênita/complicações , Puberdade Precoce/etiologia , Hiperplasia Suprarrenal Congênita/diagnóstico por imagem , Hiperplasia Suprarrenal Congênita/tratamento farmacológico , Criança , Hormônio Liberador de Gonadotropina/metabolismo , Humanos , Hidrocortisona/uso terapêutico , Hormônio Luteinizante/uso terapêutico , Masculino , Puberdade Precoce/diagnóstico por imagem , Testosterona/sangue , UltrassonografiaRESUMO
INTRODUCTION: Diabetic dyslipidaemia poses a therapeutic challenge. New therapies have emerged in this patient subgroup to enhance outcome and improve compliance. AIM: The aim of this study was to compare the effectiveness and safety of add on therapy of saroglitazar and fenofibrate with metformin in Indian patients with diabetic dyslipidaemia. MATERIALS AND METHODS: Adults patients with diabetic dyslipidaemia fulfilling the inclusion criteria were randomized in two groups. Group A patients received metformin (1000 mg/ day) and fenofibrate (160 mg/day) while group B patients received metformin (1000 mg/day) and saroglitazar (4 mg/day). Glycosylated haemoglobin (HbA1C), triglyceride (TG), LDL- cholesterol (LDL-C), HDL-cholesterol (HDL-C) levels were measured at baseline and week 12 visits. Fasting plasma glucose (FPG) and post prandial plasma glucose (PPPG) were measured at baseline and on week 4, 8 and 12 visits. RESULTS: TG and HbA1C levels decreased significantly at week 12 from their respective baseline values (p< 0.05) in both groups. FPG and PPPG levels significantly decreased at weeks 4, 8 and 12 compared to their pretreatment values (p< 0.05) in both groups. TG and HbA1C levels in group B decreased significantly compared to group A at week 12. FPG and PPPG levels in group B also decreased significantly compared to group A at every interval. Inter group analysis did not show any statistically significant change in body weight, LDL-C and HDL-C at week 12. CONCLUSION: Add on therapy of saroglitazar with metformin significantly decreased TG, HbA1C, FPG and PPPG levels compared to add on therapy of fenofibrate with metformin in Indian patients with diabetic dyslipidaemia.
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Here we report a case of a young male who developed full blown iatrogenic Cushing's syndrome after use of superpotent clobetasol propionate cream 0.05% for long duration to suppress psoriatic skin lesions. He also developed osteoporosis and hypogonadism. This case demonstrates that injudicious use of topical steroids can have disastrous consequences.
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The natural history of untreated asymptomatic primary hyperparathyroidism (PHPT) remains incompletely understood. Increased level of parathyroid hormone produces the characteristic biochemical phenotype of hypercalcemia, hypophosphatemia and the various clinical sequelae of chronic hypercalcemia. Periodic paralysis (PP) is a group of disorders of different etiologies with episodic, short-lived and hyporeflexic skeletal muscle weakness, with or without myotonia, but without sensory deficit and without loss of consciousness. However, PHPT has rare association with episodic quadriparesis mimicking as PP.
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INTRODUCTION: Klinefelter syndrome usually presents in the puberty and adulthood with its characteristic features. We report a boy who had Klinefelter syndrome with hypospadias and hydrocele. CASE NOTE: Six and half year old boy had complaints of genitourinary problem in the form of hypospadias, small phallus and hydrocele. Karyotyping showed 47,XXY. CONCLUSION: This case illustrates that Klinefelter syndrome was presented in the infancy with hypospadias and hydrocele which are very uncommon presentation of the disease.
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INTRODUCTION: We report an unusual case of normotensive pheochromocytoma detected incidentally, presenting a pre-operative management problem. CASE NOTE: A 40-year-old lady with vague abdominal symptoms was initially discovered with a left adrenal incidentaloma by ultrasound abdomen, which was also revealed in computed tomography (CT). After exclusion of all the causes with possible necessary investigations, pheochromocytoma was confirmed with elevated 24 hour urinary metanephrine and normetanephrine. Her blood pressure was in low to normotensive range all throughout. She was attempted to be prepared with combined alpha and beta blockade but could not tolerate this regimen due to symptomatic hypotension. Subsequently, surgical preparation was planned cautiously with alpha-adenergic blockade only. With intensive monitoring, she underwent uneventful left adrenalectomy, and surgical pathology was consistent with pheochromocytoma. CONCLUSION: This case illustrates an unusual presentation of normotensive pheochromocytoma as adrenal incidentaloma. Pre-operative preparation in these patients can be achieved with alpha-adrenergic blockade, adequate hydration, and liberal salt intake.
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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.