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BACKGROUND: Autoimmune hypophysitis (AH) is a rare autoimmune inflammatory disorder of pituitary gland. OBJECTIVE: To analyse clinical, hormonal, radiological features and management outcomes of AH. DESIGN: Retrospective analysis of patients with primary hypophysitis (where secondary causes of hypophysitis were ruled out) was carried out from 2006 to 2012. AH emerged as the most plausible aetiology and the diagnosis of exclusion. RESULTS: Twenty-four patients with AH (21 females and 3 males) were evaluated. They presented with symptoms of expanding sellar mass (83.3%), symptoms of anterior pituitary hormone deficiencies (58.3%), and diabetes insipidus (16.7%). The anterior pituitary hormonal axes affected were cortisol (75%), thyroid (58.33%) and gonadotropin (50%). All had sellar mass on magnetic resonance imaging, which was symmetrical (91.7%) and homogenously enhancing (91.7%). Stalk thickening, suprasellar extension, loss of posterior pituitary hyperintensity and parasellar T2 dark sign were seen in 87.5, 87.5, 71.5, and 50% respectively. In addition to hormone replacement, five (20.83%) patients underwent trans-sphenoidal surgery, fifteen (62.5%) were watchfully monitored, while four cases (16.67%) received steroid pulse therapy. On follow up imaging, the sellar mass regressed in all, while, stalk thickening was persistent in 13/19 (68.4%) non-operated patients at median follow up of 1 year. Pituitary hormone axis recovery was seen in 10 (41.67%) and was seen in cortisol 10/18 (55.5%) followed by gonadotropin 5/12 (41.67%) axis. CONCLUSION: Characteristic radiology helps in diagnosis of AH even without tissue diagnosis. Non-operative treatment is the preferred treatment modality. Steroid pulse therapy potentially improves pituitary axis recovery.
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Doenças Autoimunes/metabolismo , Doenças da Hipófise/metabolismo , Doenças Autoimunes/terapia , Feminino , Gonadotropinas/metabolismo , Humanos , Hidrocortisona/metabolismo , Imageamento por Ressonância Magnética , Masculino , Doenças da Hipófise/terapia , Hipófise/patologia , Estudos RetrospectivosRESUMO
The objective of this study was to assess the efficacy of modern conformal fractionated radiotherapy (RT) in patients with uncured Cushing's disease (CD) after failed transsphenoidal surgery (TSS). In this retrospective analysis, we reviewed records of patients with CD who received modern conformal fractionated RT between 2001 and 2010. Records were evaluated for frequency and interval of remission post RT. The change in the tumour size, endocrine insufficiencies and complications developing post RT were noted. Remission was defined as 2 mg Low dose dexamethasone suppressed cortisol of <50 nmol/l. During the study period of 10 years, a total of 24 patients (mean age: 27.9, range: 21-48 years) underwent pituitary RT for CD. Out of these, long term follow up was available for 22 patients and 20 patients (15F/5M, 12 microadenomas/8 macroadenomas) were included for final analysis. All the patients received modern conformal fractionated external beam RT (45 Gy in 25 fractions) with the median follow up of 37.5 months (range 12-144). Fifteen patients (10 microadenomas/5 macroadenomas) underwent remission after a median follow up period of 20 months. None of the patients had recurrence. Post RT, new onset endocrine deficiencies were seen in 8 (40 %) patients. Modern conformal fractionated external beam radiotherapy is an effective modality for treatment of adult patients with CD after failed TSS.
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Hipersecreção Hipofisária de ACTH/radioterapia , Neoplasias Hipofisárias/radioterapia , Adulto , Dexametasona , Fracionamento da Dose de Radiação , Feminino , Humanos , Hipopituitarismo/etiologia , Masculino , Pessoa de Meia-Idade , Hipersecreção Hipofisária de ACTH/cirurgia , Neoplasias Hipofisárias/cirurgia , Indução de Remissão , Estudos Retrospectivos , Resultado do TratamentoRESUMO
BACKGROUND: Various techniques have been attempted to increase the yield of magnetic resonance imaging (MRI) for localization of pituitary microadenomas in corticotropin (ACTH)-dependent Cushing's syndrome (CS). OBJECTIVE: To compare the performance of dynamic contrast spin echo (DC-SE) and volume interpolated 3D-spoiled gradient echo (VI-SGE) MR sequences in the diagnostic evaluation of ACTH-dependent CS. DESIGN: Data was analysed retrospectively from a series of ACTH-dependent CS patients treated over 2-year period at a tertiary care referral centre (2009-2011). PATIENTS: Thirty-six patients (24 female and 12 male) were diagnosed to have ACTH-dependent CS during the study period. All patients underwent MRI by both sequences during a single examination. Cases with negative and equivocal pituitary MR imaging underwent corticotropin-releasing hormone (CRH) stimulated bilateral inferior petrosal sinus sampling (BIPSS) to confirm pituitary origin of ACTH excess state. Thirty patients were finally diagnosed to have Cushing's disease (CD) [based on histopathology proof of adenoma and/or remission (partial/complete) of hypercortisolism postsurgery]. Six patients were diagnosed to have histopathologically proven ectopic CS. RESULTS: Of 30 patients with CD, 24 patients had microadenomas and 6 patients had macroadenomas. DC-SE MRI sequence was able to identify microadenomas in 16 of 24 patients, whereas postcontrast VI-SGE sequence was able to identify microadenomas in 21 of 24 patients. All six patients of ectopic CS had negative pituitary MR imaging by both techniques (specificity: 100%). CONCLUSION: VI-SGE MR sequence was better for localization of pituitary microadenomas particularly when DC-SE MR sequence is negative or equivocal and should be used in addition to DC-SE MR sequence for the evaluation of ACTH-dependent CS.
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Adenoma/diagnóstico , Hipersecreção Hipofisária de ACTH/diagnóstico , Neoplasias Hipofisárias/diagnóstico , Adolescente , Hormônio Adrenocorticotrópico/metabolismo , Adulto , Criança , Feminino , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Amostragem do Seio Petroso , Estudos RetrospectivosRESUMO
Certain pituitary imaging abnormalities are a specific indicator of hypopituitarism. The objective of this study is to compare phenotypical features with radiological findings in patients with congenital growth hormone deficiency (GHD). Magnetic Resonance imaging (MRI) was performed in 103 patients [72 with Isolated GHD (IGHD) and 31 with Combined Pituitary Hormone Deficiency (CPHD)]. Images were assessed for the following abnormalities: (1) small/absent anterior pituitary, (2) thin or interrupted pituitary stalk (PSA), and (3) Ectopic posterior pituitary (EPP), and (4) others. Radiological findings were correlated with the clinical and biochemical parameters. MRI abnormalities were observed in 48.6% patients with IGHD, 93.5% with CPHD. Jaundice, hypoxia, hypoglycemia and breech deliveries were more common in EPP/PSA group. EPP/PSA was observed in 87.1% patients with severe GHD (peak GH < 3 µg/L) as compared to 12.9% with mild to moderate GHD (peak GH: 3-10 µg/L). Amongst CPHD, EPP/PSA was present in 80% of subjects with associated hypocortisolism ± hypothyroidism as compared to 18.2% of subjects with hypogonadism. Over a mean follow up period of 4.5 years, 5.4% of subjects with IGHD and abnormal MRI progressed to CPHD while none of those with normal MRI progressed. This study emphasizes a significant clinico-radiological correlation in Asian Indian GHD patients. MRI abnormalities in the hypothalamic pituitary area, especially EPP/PSA are more common in patients with CPHD and severe GHD. Among CPHD, EPP/PSA predicts association with hypothyroidism or hypocortisolism. IGHD with MRI abnormality may evolve into CPHD.
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Hormônio do Crescimento Humano/deficiência , Neuro-Hipófise/patologia , Hipófise/patologia , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Hipófise/metabolismo , Neuro-Hipófise/metabolismo , Adulto JovemRESUMO
Data on peak bone mineral density (BMD) and its determinants in Asian Indians are limited. We studied the peak BMD and its determinants in Asian Indians. A total of 1137 young (age: 25--35yr) healthy volunteers of either sex (558 men and 579 women) were recruited for dietary evaluation, analyses of serum calcium, inorganic phosphorus, alkaline phosphatase, 25-hydroxyvitamin D [25(OH)D], and intact parathyroid hormone (iPTH) levels, and measurement of BMD with dual-energy X-ray absorptiometry. In men and women, peak bone mass (PBM) at the femoral neck, femoral trochanter, total femur, and lumbar spine was achieved between 25 and 30yr of age, whereas PBM at the femoral intertrochanter occurred between 30 and 35yr of age. Peak BMD was lower than that of Caucasians by 15.2--21.1% in men and 14.4--20.6% in women. On stepwise multiple regression, height and weight were the most consistent predictors of BMD at all sites in both groups. In men, 25(OH)D positively predicted BMD at the hip, whereas in women, serum iPTH negatively predicted BMD at the femoral trochanter and total femur. The study concluded that Asian Indians have significantly lower peak BMD than Caucasians and that weight and height are the most consistent predictors of BMD at all sites in both men and women.
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Absorciometria de Fóton , Povo Asiático , Densidade Óssea/fisiologia , Adulto , Fosfatase Alcalina/sangue , Biomarcadores/sangue , Cálcio/sangue , Dieta , Feminino , Fêmur/diagnóstico por imagem , Humanos , Índia , Vértebras Lombares/diagnóstico por imagem , Masculino , Hormônio Paratireóideo/sangue , Fósforo/sangue , Valor Preditivo dos Testes , Análise de Regressão , Vitamina D/sangueRESUMO
OBJECTIVE: Data on the prevalence of hypovitaminosis D in Indians living in the western part of the country are limited. The authors aimed to study the vitamin D status and dietary intake of calcium and phytates in healthy adult volunteers from a city in the western part of India. METHODS: This cross-sectional study was conducted at a tertiary care centre in western India. A total of 1137 young (age: 25-35 years), healthy volunteers of both sexes were included in the study. All subjects were assessed for sun exposure, dietary intake of energy, protein, fat, calcium and phytates. Biochemical investigations included calcium, inorganic phosphorus, alkaline phosphatase, 25-hydroxyvitamin D (25(OH)D), intact parathyroid hormone (iPTH), total proteins, albumin and creatinine in serum and spot urinary calcium to creatinine ratio. RESULTS: The serum 25(OH)D concentration for the whole study population was low (17.4±9.1 ng/ml), and that for men and women were 18.9±8.9 ng/ml and 15.8±9.1 ng/ml, respectively. Seventy per cent of the study population had hypovitaminosis D (25(OH)D <20 ng/ml) with a slightly higher prevalence in women (76%). Mean dietary calcium intake of the study population was 322.92±135.17 mg/day and was very low when compared with the recommended dietary allowance (400 mg/day for adults of both sexes) issued by the Indian Council of Medical Research. Dietary phytate was much higher than calcium intake with a dietary phytate to calcium ratio of 2.25±0.76. Serum iPTH had significant negative correlation with 25(OH)D (r=-0.23, p<0.001). CONCLUSION: Hypovitaminosis D, low dietary calcium and high phytate consumption are highly prevalent among young healthy adults in the western part of India.
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Conservadores da Densidade Óssea/administração & dosagem , Cálcio da Dieta/administração & dosagem , Ácido Fítico/administração & dosagem , Deficiência de Vitamina D/sangue , Deficiência de Vitamina D/epidemiologia , Vitamina D/administração & dosagem , Adulto , Cálcio/sangue , Estudos Transversais , Dieta , Comportamento Alimentar , Feminino , Humanos , Índia/epidemiologia , Masculino , Atividade Motora , Estado Nutricional , Ácido Fítico/metabolismo , Estações do Ano , Luz Solar , Saúde da População Urbana , Vitamina D/análogos & derivados , Vitamina D/análise , Vitamina D/sangue , Vitamina D/metabolismo , Adulto JovemRESUMO
Hyperglycemia during early pregnancy can lead to congenital malformations and/or spontaneous abortion while in the last few days of pregnancy it causes neonatal metabolic complications. Macrosomia is the most common complication and is due to maternal hyperglycemia in second and third trimester of pregnancy. In view of all these, intensive glycemic control of the mother is recommended throughout pregnancy. Intrauterine growth restriction (IUGR) is a well known complication of pre-gestational diabetic patients due to vasculopathy and is also seen in gestational diabetes mellitus (GDM) due to overinsulinisation. Hitherto there are no separate recommendations for glycemic targets in pregnant diabetic patients with IUGR. In presence of IUGR due placental vascular insufficiency, intensive glycemic control may deprive fetus of nutrition. Secondly frequent hypoglycemias which are inevitable complication of insulin treatment may further worsen the IUGR. In presence of IUGR, macrosomia is a rare possibility, and in such situation intensive glycemic control throughout pregnancy may not be justifiable and may actually be detrimental. Neonatal metabolic complications can be avoided by strict glycemic control during last two weeks of pregnancy.
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Retardo do Crescimento Fetal/induzido quimicamente , Feto/efeitos dos fármacos , Hiperglicemia/complicações , Hiperglicemia/tratamento farmacológico , Complicações na Gravidez/prevenção & controle , Gravidez em Diabéticas/tratamento farmacológico , Feminino , Humanos , GravidezRESUMO
Waist circumference (WC) is globally used as a parameter to quantify central obesity, the key culprit in insulin resistance and related disorders. Hitherto globally in various definitions of metabolic syndrome and risk scores, WC is used to quantify central obesity. For defining central obesity, which is a single entity numerous WC cutoffs have been suggested, separately for males and females and various races. We believe that this difference is amenable to differences in their average heights. To quantify proportion of visceral fat in the total body fat, WC alone is not sufficient. We hereby hypothesize that Index of central obesity (ICO) defined by us, as a ratio of WC and height is a better parameter of central obesity. If ICO is used in place of WC we may do away with various WC cutoffs and may have a single cutoff applicable to all races and both genders. Using average heights of various countries and their respective WC cutoffs suggested by IDF consensus definition for defining metabolic syndrome (MS) we derived their ICO cutoffs mathematically. The ICO cutoffs obtained ranged from 0.51 to 0.58 among males and 0.47 to 0.54 among females. The range has narrowed down compared to wide range of cutoffs for WC i.e. 90-102 cm for males and 80-88 cm for females. To test superiority of ICO over WC even among people of same race and same gender we conducted a pilot study in which, we compared two subjects with same WC and body mass index (BMI), though they differed in their stature. Body fat distribution was compared on DEXA and oral glucose tolerance was tested. Percentage of total body fat contributed by truncal fat was 36.11% in taller subject (Dr. P) and 46.31% in the shorter one (Mr. P). On investigation Dr P had normal glucose tolerance while Mr. P was diagnosed to be diabetic. These differences unexplained by identical WC and BMI could be explained by difference in their ICO (0.557 vs 0.645). ICO has a potential to be a better parameter of central obesity. It may obviate the need for numerous WC cutoffs and may even be applicable to children where existing parameters are not useful.
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Estatura , Modelos Biológicos , Obesidade/diagnóstico , Obesidade/patologia , Absorciometria de Fóton , Adulto , Antropometria , Glicemia/análise , Distribuição da Gordura Corporal/normas , Índice de Massa Corporal , Feminino , Teste de Tolerância a Glucose , Humanos , Masculino , Obesidade/sangue , Obesidade/etnologia , Projetos PilotoRESUMO
This was an open-label, randomised 26-week study to determine the effects of adding 4 mg rosiglitazone (Avandia) daily to existing sulphonylurea (SU) therapy in patients with type 2 diabetes from India, Brazil, The Philippines, Thailand, Argentina and Tunisia. Of the 348 patients, 175 received 2 mg rosiglitazone twice daily plus SU (RSG+SU) and 173 received SU alone (at their normal dose). The RSG+SU group showed a significant reduction in HbA1c (mean HbA1c 9.05% at baseline, 7.92% at 26 weeks, mean change -1.13 (95% Cl -1.37, -0.89)). Mean HbA1c essentially remained unchanged in the control group (8.9 to 9.0%). The RSG+SU group showed a significant decrease in fasting plasma glucose concentration (FPG) (mean FPG 198.7 mg/dl at baseline, 160.3 mg/dl at 26 weeks, mean change -38.4 (95% Cl -47.1, -29.7)) while the controls showed a non-significant increase from 194 to 200 mg/dl. Significantly more patients in the RSG+SU group achieved FPG < 140 mg/dl, > or = 0.7% decrease in HbA1c, and > or = 30 mg/dl decrease in FPG between baseline and week 26 than the controls (p = 0.0001 in each case). Adverse events were similar in both groups; more patients in the RSG+SU group reported hypoglycaemia, but most cases were mild. This study shows that adding rosiglitazone to existing SU treatment improves glycaemic control and is well-tolerated in patients with type 2 diabetes from a wide range of non-Western countries.
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Diabetes Mellitus Tipo 2/tratamento farmacológico , Hipoglicemiantes/uso terapêutico , Compostos de Sulfonilureia/uso terapêutico , Tiazóis/uso terapêutico , Tiazolidinedionas , Adulto , Idoso , Idoso de 80 Anos ou mais , Países em Desenvolvimento , Quimioterapia Combinada , Feminino , Humanos , Hipoglicemiantes/administração & dosagem , Masculino , Pessoa de Meia-Idade , Rosiglitazona , Compostos de Sulfonilureia/administração & dosagem , Tiazóis/administração & dosagem , Resultado do TratamentoRESUMO
OBJECTIVE: To assess bone mineral density (BMD) in type 2 diabetes mellitus (T2DM) patients and its relation, if any, to clinical, hormonal and metabolic factors. MATERIALS AND METHODS: A prospective evaluation of 194 T2DM patients (97 men and 97 women) was carried out. BMD was done with dual energy X-ray absorptiometry (DXA) at the lumbar spine and total hip. Physical activity, nutritional intake and sunlight exposure were calculated. Biochemical and hormonal tests included serum 25 hydroxy vitamin D [25(OH) D], parathyroid hormone, estrogen, testosterone and urinary calcium-creatinine ratio. Glycosylated hemoglobin and complete lipid profiles were done in patients with diabetes. Five hundred and seventy one non-diabetic controls (262 males and 309 females) were evaluated for BMD alone. RESULTS: BMD was normal (Z score > -2) in 156 (80.5%) and low (Z score ≤ -2) in 38 (19.5%) patients in the diabetes study group. BMD in the diabetes group was significantly higher than the control group in both sexes at the hip and spine. The difference was no longer significant on analysis of a BMI matched control subgroup. Weight and BMI showed significant correlation to BMD. Duration of T2DM, degree of glycemic control, use of drugs like statins and thiazolidinediones, 25(OH) D levels, calcium intake, sunlight exposure and physical activity did not significantly affect BMD in this cohort of individuals with diabetes. CONCLUSIONS: Bone mineral density of Asian Indian T2DM subjects was similar to that of healthy volunteers in this study.
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OBJECTIVE: To describe a case of pheochromocytoma (PHEO) with tetralogy of Fallot (TOF) and discuss the difficulties encountered during the management of this patient, with a review of the literature. METHODS: We report the clinical course, imaging, and management issues of our patient and review relevant literature. RESULTS: A 14-year-old female who was known to have TOF presented with classical paroxysmal symptoms and worsening dyspnea. She was diagnosed as having epinephrine-secreting PHEO based on biochemical, radiologic, and functional imaging. She was treated with an α-1 blocker for control of paroxysms but developed severe cyanotic spells. She required addition of a calcium-channel blocker for control of the paroxysms and underwent successful cardiac repair. CONCLUSION: Treatment of the combination of cyanotic congenital heart disease (CCHD) and PHEO requires an individualized and multidisciplinary approach with judicious use of available medications. This is the first case of uncorrected TOF and epinephrine-secreting PHEO. Our case also reiterates the need for further studies to better understand the pathophysiologic link between PHEO/paraganglioma and CCHD.
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OBJECTIVE: Idiopathic hypogonadotropic hypogonadism (IHH) can be associated with subnormal sense of smell. The objective of our study was to determine if there is a correlation between the olfactory phenotype (clinical smell test) of IHH patients and structural abnormalities in the olfactory apparatus on magnetic resonance imaging (MRI). METHODS: This was a single-center prospective case control study. Forty-one IHH patients underwent a brief University of Pennsylvania Smell Identification Test (UPSIT) and an MRI of the olfactory apparatus. The size of the olfactory sulcus and bulb were quantified and compared with the normative data of 40 controls. Agreement between UPSIT and MRI results was assessed using the kappa index. RESULTS: MRI showed that the olfactory apparatus was normal in 17 patients, hypoplastic in 14, and aplastic in 10. All 13 patients who complained of anosmia and 12 of 28 patients who reported normosmia had a low UPSIT score. Thus, 25 patients had Kallmann syndrome (KS) and 16 were normosmic IHH (nIHH). MRI revealed abnormalities in 68% of KS and 37.5% of nIHH patients. The MRI abnormalities in KS patients were aplasia (56%) and hypoplasia (44%). All 6 nIHH patients with abnormal MRI had hypoplasia. A significant positive correlation (r = 0.61; P<.01) between olfactory bulb volume (from MRI) and smell-test score was found, and there was good agreement (kappa index, 0.72) between anosmia and the presence of an aplastic olfactory apparatus. CONCLUSION: Self-reporting of the sense of smell significantly underestimates olfactory phenotype; hence, we recommend an objective smell test to distinguish KS from nIHH. Olfactory phenotype correlates well with MRI quantification of the olfactory apparatus in IHH.
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Hipogonadismo/fisiopatologia , Adolescente , Adulto , Estudos de Casos e Controles , Feminino , Humanos , Hipogonadismo/patologia , Imageamento por Ressonância Magnética , Masculino , Bulbo Olfatório/patologia , Bulbo Olfatório/fisiopatologia , Estudos Prospectivos , População Branca , Adulto JovemRESUMO
OBJECTIVE: Ectopic adrenocorticotropic hormone (ACTH)-secreting syndrome (EAS) is a rare cause of ACTH-dependent endogenous hypercortisolism. The objective of this study was to analyze clinical, biochemical, and imaging characteristics; management strategies; and outcomes of EAS patients. METHOD: We screened the records (1993-2012) of ACTH-dependent endogenous hypercortisolism cases managed at a tertiary care center. RESULTS: Of the 218 patients, 17 were diagnosed with EAS. The median 8:00 AM serum cortisol was 36 µg/dL (11.4-82.7 µg/dL), and the median basal plasma ACTH was 156 pg/mL (53.5-468 pg/mL). Notably, ACTH levels below 100 pg/mL were found in 4 patients. Suspicious microadenoma was found on magnetic resonance imaging (MRI) of the pituitary in 5 patients, and all of them underwent transsphenoidal surgery (TSS). Inferior petrosal sinus sampling (IPSS) was performed in 8 patients, and the results were suggestive of a peripheral source in all 8. Computed tomography (CT) localized the lesion in 15/17 patients. In 2 patients with negative CTs, gallium DOTATATE positron emission tomography (PET) scans localized the lesion. Despite difficulties localizing bronchial carcinoids, the cure rate was high (72%). In contrast, thymic carcinoids were easily localized but had poor outcomes. CONCLUSION: EAS cannot be ruled out on the basis of marginally elevated ACTH. In cases with an equivocal MRI pituitary finding, prior IPSS can help avoid unnecessary TSS. CT is a useful modality for localization of an ectopic source. Functional imaging may help in cases where anatomical imaging fails.
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Síndrome de ACTH Ectópico/terapia , Síndrome de ACTH Ectópico/diagnóstico , Síndrome de ACTH Ectópico/patologia , Adolescente , Hormônio Adrenocorticotrópico/sangue , Adulto , Biomarcadores/sangue , Neoplasias Brônquicas/complicações , Neoplasias Brônquicas/patologia , Neoplasias Brônquicas/terapia , Criança , Hormônio Liberador da Corticotropina/metabolismo , Síndrome de Cushing/sangue , Síndrome de Cushing/etiologia , Feminino , Gálio , Humanos , Hidrocortisona/sangue , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Neoplasias Pancreáticas/complicações , Neoplasias Pancreáticas/patologia , Neoplasias Pancreáticas/terapia , Hipófise/patologia , Estudos Retrospectivos , Neoplasias do Timo/complicações , Neoplasias do Timo/patologia , Neoplasias do Timo/terapia , Neoplasias da Glândula Tireoide/complicações , Neoplasias da Glândula Tireoide/patologia , Neoplasias da Glândula Tireoide/terapia , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Adulto JovemRESUMO
A patient with microprolactinoma, who had two successful pregnancies, is described for management issues. First pregnancy was uneventful. During the second pregnancy, the tumor enlarged to macroprolactinoma with headache and blurring of vision which was managed successfully with bromocriptine. Post delivery, complete disappearance of the tumor was documented.
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Hypophosphatemic rickets is a disorder of bone mineralization caused due to defects (inherited/acquired) in the renal handling of phosphorus. This group includes varied conditions, X-linked hypophosphatemic rickets being the most common inheritable form of rickets. The other common forms are autosomal dominant hypophosphatemic rickets and tumor-induced osteomalacia. Although these conditions exhibit different etiologies, increased phosphatonins form a common link among them. Fibroblast growth factor 23 (FGF23) is the most widely studied phosphatonin. Genetic studies tend to show that the phosphorus homeostasis depends on a complex osteo-renal axis, whose mechanisms have been poorly understood so far. Newer disorders are being added as the mechanisms in this axis get discovered. This review focuses on the clinical, biochemical, genetic features and management of hypophosphatemic disorders leading to defective mineralization.
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A 5½-year-old adopted girl was referred to us in view of short stature. After ruling out systemic illness, she was evaluated for growth hormone deficiency (GHD) by stimulation tests. The peak value was 3.47 ng/ml. She was then started on growth hormone (GH). At the end of 6 months of GH therapy, her height velocity was only 3 cm/year. There was a lack of attachment between the mother and the child. She had history of hyperphagia, stealing, and hoarding food. Psychiatry consultation confirmed that the child had appetite disorder, and hence was diagnosed as hyperphagic short stature (HSS). The girl and her parents are undergoing psychiatric therapy for the same. Psychosocial dwarfism seems to originate from serious disturbances in the mother-child relationship. These children mimic patients with GHD, but have poor response to GH therapy. This case underscores the importance of social environment in the growth of the individual.
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OBJECTIVE: To describe the clinical presentation, localization modalities, and management of patients with tumor-induced osteomalacia (TIO). METHODS: We performed a retrospective analysis of case records of patients diagnosed with TIO between January 1996 and March 2010 at our institution in Mumbai, India. RESULTS: Nine patients (6 female and 3 male) with a mean age of 37.5 ± 17.5 years with biochemical and imaging evidence of TIO were included in the study. Overall, patients presented with proximal muscle weakness and pain. Three patients had neurofibromatosis 1, one had isolated schwannoma, and one had epidermal nevus syndrome. The mean delay in diagnosis was 7.67 years. Biochemical studies revealed normal serum calcium (mean, 9.2 ± 0.8 mg/dL), low serum phosphorus (mean, 1.36 ± 0.54 mg/dL), and low maximal tubular reabsorption of phosphorus factored for glomerular filtration rate (mean, 0.94 ± 0.49 mg/dL). Fibroblast growth factor-23 was increased in 3 of the patients without neurofibromatosis but was normal or near-normal in all the patients with neurofibromas. A fludeoxyglucose F 18 positron emission tomography (FDG PET) scan helped to localize the tumors in 4 of the 5 patients with diagnoses other than neurofibromatosis. Three patients underwent surgical excision and were cured. One patient underwent biopsy and partial excision. Histopathologic findings were suggestive of phosphaturic mesenchymal tumor, benign fibrous histiocytoma, nonossifying fibroma, and sciatic nerve schwannoma. CONCLUSION: There is a well-known delay in the diagnosis of TIO. FDG PET is a useful modality for localization of tumors. Preoperative localization increases the odds for cure after surgical excision.
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Neoplasias de Tecido Conjuntivo , Adulto , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neoplasias de Tecido Conjuntivo/sangue , Neoplasias de Tecido Conjuntivo/diagnóstico , Neoplasias de Tecido Conjuntivo/patologia , Neoplasias de Tecido Conjuntivo/cirurgia , Osteomalacia , Síndromes Paraneoplásicas , Tomografia por Emissão de Pósitrons , Estudos Retrospectivos , Adulto JovemRESUMO
Aims. To establish the prevalence and the effect of thyroid dysfunction on pregnancy outcomes in Asian-Indian population. Subjects and Methods. The study cohort comprised of 483 consecutive pregnant women in the first trimester attending the antenatal clinic of a tertiary center in Mumbai, India. Thyroid hormone levels and thyroid peroxidase antibody were estimated. Patients with thyroid dysfunction were assessed periodically or treated depending on the severity. Subjects were followed until delivery. Results. The prevalence of hypothyroidism, Graves' disease, gestational transient thyrotoxicosis, and thyroid autoimmunity (TAI) was 4.8% (n = 24), 0.6% (n = 3), 6.4 % (n = 31), and 12.4% (n = 60), respectively. Forty percent of the hypothyroid patients did not have any high-risk characteristics. Hypothyroidism and TAI were associated with miscarriage (P = 0.02 and P = 0.001, resp.). Conclusions. The prevalence of hypothyroidism (4.8%) and TAI (12.4%) is high. TAI and hypothyroidism were significantly associated with miscarriage.
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AIMS: To study the prevalence of upper airway obstruction (UAO) in "apparently asymptomatic" patients with euthyroid multinodular goitre (MNG) and find correlation between clinical features, UAO on pulmonary function test (PFT) and tracheal narrowing on computerised tomography (CT). MATERIALS AND METHODS: Consecutive patients with apparently asymptomatic euthyroid MNG attending thyroid clinic in a tertiary centre underwent clinical examination to elicit features of UAO, PFT, and CT of neck and chest. STATISTICAL ANALYSIS USED: Statistical analysis was done with SPSS version 11.5 using paired t-test, Chi square test, and Fisher's exact test. P value of <0.05 was considered to be significant. RESULTS: Fifty-six patients (52 females and four males) were studied. The prevalence of UAO (PFT) and significant tracheal narrowing (CT) was 14.3%. and 9.3%, respectively. Clinical features failed to predict UAO or significant tracheal narrowing. Tracheal narrowing (CT) did not correlate with UAO (PFT). Volume of goitre significantly correlated with degree of tracheal narrowing. CONCLUSIONS: Clinical features do not predict UAO on PFT or tracheal narrowing on CT in apparently asymptomatic patients with euthyroid MNG.
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The projected prevalence of Cushing's syndrome (CS) inclusive of subclinical cases in the adult population ranges from 0.2-2% and it may no longer be considered as an orphan disease (2-3 cases/million/year). The recognition of CS by physicians is important for early diagnosis and treatment. Late-night salivary cortisol, dexamethasone suppressiontesti, or 24-h urine free cortisol are good screening tests. Positively screened cases need stepwise evaluation by an endocrinologist. This paper discusses the importance of screening for CS and suggests a stepwise diagnostic approach to a case of suspected hypercortisolism.