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Background Antenatal corticosteroids prevent multiple fetal complications and improve overall neonatal survival but at the cost of adverse effects including maternal hyperglycemia. This study aimed to understand the effect of antenatal corticosteroids on maternal glycemic control. Methodology This prospective observational study included 93 pregnant women with singleton pregnancies between 32 and 37 weeks gestation admitted for potential preterm labor. We assessed their glucose tolerance and categorized 56 participants with normal glucose tolerance in group 1, while 37 who had diabetes mellitus (DM) were categorized in group 2. Of the women with DM, 30 had gestational diabetes mellitus and seven had pre-existing type 2 diabetes. Betamethasone was administered as per the standard of care, two doses of 12 mg each, 24 hours apart. To assess the effect of corticosteroids on maternal blood glucose control, we monitored capillary blood glucose levels at specific time intervals for three days following the steroid administration. Fasting and post-meal glucose levels were checked a week after the administration of the steroid therapy, and it was observed that participants from group 1 had developed steroid-related hyperglycemia. Blood glucose levels ≥140 mg/dL were considered significant hyperglycemia, while blood glucose levels ≥160 mg/dL were considered severe hyperglycemia. Following this observation, we documented any modifications in the diabetes management plan during or after the corticosteroid treatment, including medical nutrition therapy, addition of oral anti-diabetic medications, commencement of insulin, or increasing insulin dosage. Standard software programs such as Microsoft Excel and SPSS (IBM Corp., Armonk, NY, USA) were used to analyze the collected data, summarize the findings, and identify any statistically significant relationships between the variables descriptive and inferential statistics, respectively. Results Participants from both groups demonstrated worsening glycemia requiring treatment involving insulin, following corticosteroid administration. The percentages of significant hyperglycemic participants from groups 1 and 2 were 72% and 92%, respectively. Severe hyperglycemia was seen in 43% and 84% of the participants from groups 1 and 2, respectively. An intervention involving insulin administration was required by group 2 participants with pre-existing diabetes within six hours of steroid administration, followed by those with gestational diabetes requiring intervention within 12-24 hours, and by group 1 participants at 24-48 hours. One week after the administration of antenatal corticosteroids, hyperglycemia persisted in 20 (35.71%) of the 56 participants in group 1, of which six (30%) participants required insulin therapy. On the other hand, 18 (48.64%) participants from group 2 required additional insulin therapy after a week of administration of steroids when compared to pre-steroid administration status. Conclusions The findings of this study demonstrate that antenatal betamethasone therapy resulted in worsening hyperglycemia in most pregnant women, regardless of pre-existing glycemic status. These findings highlight the need for close monitoring of blood glucose levels and potential adjustments to medication regimens following antenatal betamethasone administration, irrespective of the pre-existing glycemic status.
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Subramanian Kannan Serum thyroglobulin (Tg) and thyroglobulin antibody (TgAb) levels are used to monitor patients with differentiated thyroid cancer (DTC) after total thyroidectomy with or without radioiodine (RAI) ablation. However, they are also measured in patients who are treated with thyroid lobectomy (TL)/hemithyroidectomy (HT). Data on the levels of Tg and its trend in those undergoing TL/HT is sparse in India. We reviewed retrospective data of DTC patients who underwent TL/HT and were followed-up with postoperative Tg levels between 2015 and 2020. Out of 247 patients, 17 had undergone either TL or HT, which included papillary thyroid cancer ( n = 12), follicular thyroid cancer ( n = 4), and noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) in 1 patient. All patients with DTC had tumor size < 4 cm (T1/2, clinical N0, Mx). The median follow-up was 15 months (range, 1-125) and the median Tg level was 7.5 ng/mL (interquartile range [IQR]; 3.6, 7.5) and ranged from 0.9 to 36.7 ng/mL. The median thyroid-stimulating hormone (TSH) level was 2.03 IU/L (IQR; 1.21, 3.59) and it ranged from 0.05 to 8.54 IU/L. As of last follow-up, none of them underwent completion thyroidectomy; however, eight patients had a decline in Tg ranging from 8 to 64%, four patients had increase in Tg ranging from 14 to 145%, three patients had stable Tg, and one of them had an increase in TgAb titers. As per American Thyroid Association (ATA) response-to-treatment category, six patients had indeterminate response, five patients had biochemical incomplete response, four patients had excellent response, and two did not have follow-up Tg and TgAb levels. While absolute values of Tg were well below 30 ng/mL in almost all patients with HT/TL, the Tg trends were difficult to predict, and only 23% of patients were able to satisfy the criteria for "excellent response" on follow-up. We suggest keeping this factor in mind in follow-up and while counselling for HT in patients with low-risk DTC.
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Ultrasound-guided fine needle aspiration cytology (FNAC) is the preferred method of identifying malignancy in palpable thyroid nodules using the Bethesda reporting system. However, in around 30-40% of FNACs (Bethesda categories III, IV, and V), the results are indeterminate and surgery is required to confirm malignancy. Out of those who undergo surgery, only 10-40% of patients in these categories are found to have malignancies, thus proving surgery to be unnecessary for some patients or to be incomplete in others. While molecular testing on thyroid FNAC material is part of the American Thyroid Association (ATA) guidelines in evaluating thyroid nodules, it is currently unavailable in India due to cost constraints. In this study, we prospectively collected FNAC samples from sixty-nine patients who presented with palpable thyroid nodules. We designed a cost-effective next-generation sequencing (NGS) test to query multiple variants in the DNA and RNA isolated from the fine needle aspirate. The identification of oncogenic variants was considered to be indicative of malignancy, and confirmed by surgical histopathology. The panel showed an overall sensitivity of 81.25% and a specificity of 100%, while in the case of Bethesda categories III, IV, and V, the sensitivity was higher (87.5%) and the specificity was established at 100%. The panel could thereby serve as a rule-in test for the diagnosis of thyroid cancer and therefore help identify patients who require surgery, especially in the indeterminate Bethesda categories III, IV, and V.
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OBJECTIVE: To evaluate the pathogenic role of a few benign variants and hypomorphic pathogenic variants in SRD5A2. DESIGN AND METHODS: We retrospectively analyzed phenotypes and genotypes in 23 Indian patients with genetically proven steroid 5α-reductase 2 (SRD5A2) deficiency. The interactions of the SRD5A2 enzymes resulting due to the most common benign variant (p.Val89Leu), the most common (hypomorphic) pathogenic variant (p.Arg246Gln) and the double variants (p.Val89Leu and p.Arg246Gln) in SRD5A2 were compared with that of the wild type (WT) enzyme by molecular dynamics (MD) simulation. RESULTS: The majority (n = 19, 82.61%) of patients presented for atypical genitalia and had male gender identity (16/20). Including the two novel ones (p.Leu83Pro, p.Ala28Leufs*103), a total of nine different pathogenic variants were observed. p.Arg246Gln was the most common pathogenic variant (n = 12). Homozygous p.Arg246Gln (n = 9) variant was associated with milder undervirilization (Sinnecker score of ≤3a: 8/9 vs 6/14, P = 0.04) and had concurrent homozygous p.Val89Leu in all patients. Interestingly, asymptomatic fathers of two index patients were homozygous for p.Arg246Gln which questioned the pathogenicity of the variation as a sole factor. Unlike all symptomatic homozygous p.Arg246Gln patients who were also homozygous for p.Val89Leu, asymptomatic homozygous p.Arg246Gln fathers were heterozygous for p.Val89Leu. On MD simulation SRD5A2 p.Val89Leu-Testeosterone (T) and SRD5A2 p.Arg246Gln-T complexes, but not SRD5A2 p.Val89Leu and p.Arg246Gln-T complex, demonstrated close interaction between NADPH and T as that of SRD5A2 WT-T. CONCLUSIONS: p.Arg246Gln may not be pathogenic as a sole variation even in the homozygous state; additional contribution of homozygous p.Val89Leu variant may be essential for the pathogenicity of p.Arg246Gln in SRD5A2.
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3-Oxo-5-alfa-Esteroide 4-Deshidrogenasa/deficiencia , 3-Oxo-5-alfa-Esteroide 4-Deshidrogenasa/genética , Trastornos del Desarrollo Sexual/enzimología , Homocigoto , Adolescente , Adulto , Niño , Preescolar , Trastornos del Desarrollo Sexual/genética , Trastornos del Desarrollo Sexual/patología , Femenino , Identidad de Género , Genotipo , Humanos , India , Lactante , Recién Nacido , Masculino , Simulación de Dinámica Molecular , Mutación/genética , NADP/metabolismo , Fenotipo , Polimorfismo de Nucleótido Simple/genética , Estudios Retrospectivos , Adulto JovenRESUMEN
BACKGROUND: Diabetes is a psychologically challenging medical condition. Diabetes distress (DD) refers to the unique, often hidden emotional burdens and worries that the patient experiences when managing diabetes. OBJECTIVE: The objective of the study was to find the burden and identify the predictors of DD in adult Type 2 diabetes mellitus (T2DM) patients. MATERIALS AND METHODS: Two hundred and fifty T2DM patients were recruited for this study from the endocrine outpatient department from February to April 2019. DD was measured using the Diabetic Distress Scale. RESULTS: The prevalence of DD was 19.6%. The risk of DD was 4.25 times more in those aged ≤45 years as compared to those aged >45 years. Patients with hemoglobin A1c (HbA1c) >8% had 8.8 times more DD. Patients on insulin had more DD (5.4 times) as compared to patients who were on oral antidiabetic drugs. Patients with a history of treatment interruption had 11 times more risk of DD as compared to patients who did not. CONCLUSIONS: DD was found to be high among patients aged ≤45 years, illiterates, patients on insulin, patients with a history of treatment interruption, and those with HbA1c >8%. Patients with high DD were found to have higher HbA1c levels.
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Instituciones de Atención Ambulatoria/organización & administración , Diabetes Mellitus/terapia , Registros Electrónicos de Salud/organización & administración , Mejoramiento de la Calidad , Programas Informáticos , Adulto , Anciano , Anciano de 80 o más Años , Instituciones de Atención Ambulatoria/normas , Eficiencia Organizacional , Registros Electrónicos de Salud/normas , Femenino , Humanos , Masculino , Informática Médica/métodos , Informática Médica/organización & administración , Persona de Mediana Edad , Mejoramiento de la Calidad/organización & administración , Mejoramiento de la Calidad/normas , Interfaz Usuario-ComputadorRESUMEN
BACKGROUND: It is well known that anemia and red cell turn over affects the HbA1c value. Iron deficiency anemia increases the HbA1c and haemolytic anemia lowers it. However, the cut-off of haemoglobin (Hb) or red-cell indices when the HbA1c value becomes unreliable is not known. AIM: We sought to find out values of HbA1c and red-cell indices where there is considerable discordance between HbA1c and plasma glucose (PG) values in the diagnosis of diabetes (DM) and pre-diabetes (Pre-DM) making HbA1c values unreliable. METHODS: A cross-sectional study of 237 non-diabetic subjects who attended our out-patient division of preventive health check-up clinics, between November 2016 and December 2017. Data was collected only from relatively healthy subjects who had voluntarily opted for undergoing a preventative health check-up (including a diabetes screening). Patients were classified as concordant (fasting and 2-hr post meal glucose values are in agreement with HbA1c) and discordant (values are not in agreement with HbA1c). RESULTS: A total of 237 patients (73% males) with mean age was 47.2±9.7 years (range 25-75) were included in the study. The HbA1c definition group had more diagnosis of DM (153 vs 96) and but lesser numbers of pre-DM (66 vs 102) compared to the PG group. Out of 237 patients, 133 (56%) showed concordance and 104 (44%) were discordant. The FPG, 2h-PPBG and HbA1c are significantly higher in the concordant group. The Hb value and MCV were significantly higher (p<0.05) in concordant group whereas, RDW and platelets are significantly higher (p<0.05) in discordant group. The highest rate of discordance was noted in the HbA1c strata of 6.5-7% (72%) followed by HbA1c of 5-6.4% (42%) and least in the HbA1c strata >7% (20%). While no single Hb or MCV value could predict discordance, a RDW value >17 was consistently associated with discordance across all the HbA1c strata. CONCLUSION: A HbA1c below 7% is significantly influenced by red-cell turn over indices and clinicians need to perform additional testing using plasma glucose levels to confirm the presence of diabetes or pre-diabetes. In patients whose RDW >17, HbA1c should be replaced by 75gm OGTT as a test of choice for diagnosis of diabetes or pre-diabetes.
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INTRODUCTION: Although few studies have demonstrated utility of 18 F- fluoro-2-deoxy-d-glucose positron emission tomography/computerised tomography (18 F-FDG PET/CT) in benign pheochromocytoma/paragangliomas (PCC/PGLs), there limited data on factors predicting the FDG uptake in PCC/PGL. METHODS: The study was conducted at a tertiary health care centre. In addition to the routine investigations, all patients (n = 96) with PCC/PGL were evaluated with 18 F-FDGPET/CT and majority (n = 78) underwent 131 I-metaiodobenzyl guanidine (131 I-MIBG) scintigraphy. Forty-three patients also underwent testing for germline mutations in five PCC/PGL susceptibility genes (VHL, RET, SDHB, SDHC and SDHD) and all patients were evaluated clinically for neurofibromatosis-1. RESULTS: The study included 96 patients with PCC/PGL(82 benign and 14 malignant). FDGSUVmax was significantly higher for malignant than benign PCC/PGL(P = 0.009) and for extra-adrenal PGL than adrenal PCC (P = 0.017). In subgroup analysis, metanephrine-secreting PCC and non-secretory PCC had significantly lower FDG SUVmax than normetanephrine-secreting PCC (P = 0.017, P = 0.038 respectively), normetanephrine-secreting-sympathetic PGL (P = 0.008, P = 0.019 respectively) and non-secretory sympathetic PGL (P = 0.003, P = 0.009 respectively). Patients with mutations in cluster 1 genes (n = 14) had significantly higher FDG SUVmax than those with mutations in cluster 2 genes (n = 4) (P = 0.04). Sensitivities of 131 I-MIBG and 18 F-FDG PET/CTwere 77.78% and 100% for cluster 1 genes-related PCC/PGL whereas they were 100% and 50% for cluster 2 genes-related PCC/PGL, respectively. Multivariate regression analysis of mutation positive patients identified genetic status as the only independent predictor of FDG SUVmax. CONCLUSION: The study suggests that the underlying genetic status determines FDG uptake in PCC/PGL and not location, secretory status or malignancy.
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Neoplasias de las Glándulas Suprarrenales/diagnóstico por imagen , Neoplasias de las Glándulas Suprarrenales/genética , Fluorodesoxiglucosa F18/farmacocinética , Paraganglioma/diagnóstico por imagen , Paraganglioma/genética , Feocromocitoma/diagnóstico por imagen , Feocromocitoma/genética , Tomografía Computarizada por Tomografía de Emisión de Positrones/métodos , Radiofármacos/farmacocinética , 3-Yodobencilguanidina/farmacocinética , Adulto , Femenino , Genotipo , Humanos , India , Masculino , Estudios Prospectivos , Sensibilidad y EspecificidadRESUMEN
BACKGROUND: Data on genotype-phenotype correlation in children is limited. Hence, we studied the prevalence of germline mutations and genotype-phenotype correlation in children with pheochromocytoma (PCC)/paraganglioma (PGL) and compared it with adult PCC/PGL cohort. METHODS: A total of 121 consecutive, unrelated, index PCC/PGL patients underwent genetic testing for five PCC/PGL susceptibility genes (RET, VHL, SDHB, SDHD and SDHC) and were evaluated for clinical diagnosis of neurofibromatosis type1 (NF1). RESULTS: Thirty patients (12 boys, 18 girls) presented at ≤20 years of age (mean age of 15.9±3.8 years). Children were more frequently symptomatic and more frequently had bilateral PCC than adults. Fourteen (46.7%) PCC/PGL children had germline mutations (VHL 10 [33.3%], SDHB 2 [6.6%], and SDHD 2 [6.6%]). Overall germline mutations (46.7% vs. 26.4%, p=0.04) and VHL mutations (33.3% vs. 10.9%, p=0.026) were significantly more common in children than in adults. In children with VHL mutations, bilateral PCC were more frequent than in adults with VHL mutations. Within the paediatric cohort, bilateral PCC (60% vs. 5%, p=0.002), PCC+sPGL (30% vs. 0%, p=0.03) and occurrence of a second PCC/PGL (30% vs. 0%, p=0.03) were significantly more frequent among children with VHL mutations than others. CONCLUSIONS: All PCC/PGL children should be screened for germline mutations with first priority for VHL gene testing. Paediatric PCC/PGL patients with VHL mutations should be thoroughly evaluated for bilateral PCC and PCC+sPGL at initial presentation and closely followed up for occurrence of a second PCC/PGL.
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Neoplasias de las Glándulas Suprarrenales/genética , Marcadores Genéticos , Mutación , Paraganglioma/genética , Feocromocitoma/genética , Adolescente , Neoplasias de las Glándulas Suprarrenales/patología , Adulto , Niño , Estudios de Cohortes , Femenino , Estudios de Asociación Genética , Humanos , India , Masculino , Paraganglioma/patología , Feocromocitoma/patología , Adulto JovenRESUMEN
BACKGROUND AND AIMS: Malignant transformation of pheochromocytomas/paragangliomas (PCC/PGL) is a rare occurrence, and predictive factors for the same are not well understood. This study aims to identify the predictors of malignancy in patients with PCC/PGL. MATERIALS AND METHODS: We performed a retrospective analysis of 142 patients with either PCC or PGL registered at our institute between 2000 and 2015. Records were evaluated for clinical parameters like age, gender, familial/syndromic presentation, symptomatic presentation, biochemistry, size, number and location of tumours and presence of metastases and mode of its diagnosis. RESULTS: Twenty patients were found to have metastases; 13 had metastases at diagnosis and seven during follow-up. Metastases were detected by radiology (CT-neck to pelvis) in 11/20 patients (5/13 synchronous and 6/7 metachronous), 131I-metaiodobenzylguanidine in five (2/12 synchronous and 3/6 metachronous) patients and 18F-flurodeoxyglucose PET/CT in 15 (12/12 synchronous and 3/3 metachronous) patients. Malignant tumours were significantly larger than benign tumours (8.3 ± 4.1 cm, range: 3-22 cm vs 5.7 ± 2.3 cm, range: 2-14 cm, P = 0.0001) and less frequently metanephrine secreting. On linear regression analysis, tumour size and lack of metanephrine secretion were the independent predictors of malignancy. CONCLUSIONS: Patients with primary tumour size >5.7 cm and lack of metanephrine secretory status should be evaluated for possible malignancy not only at diagnosis but also in the postoperative period. As compared to CT and 131I-MIBG scan, 18F-flurodeoxyglucose PET/CT analyses are better (sensitivity: 100%) for the diagnosis of metastases in our study.
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BACKGROUND: Genetic aetiology of pheochromocytoma (PCC) and paraganglioma (PGL) is increasingly being studied; however, Asian Indian data on this aspect are scarce. OBJECTIVE: To study the prevalence of germline mutations and genotype-phenotype correlation in Asian Indian PCC/PGL patients. DESIGN: In this study, 150 index patients (M:F, 73:77) with PCC/PGL were evaluated. Phenotypic data were collected. Germline mutations in five susceptibility genes (RET, VHL, SDHB, SDHD and SDHC) were tested by sequencing and NF1 was diagnosed according to phenotype. RESULT: Of the total population, 49 (32.7%) PCC/PGL patients had germline mutations (VHL: 23 (15.3%), RET: 13 (8.7%), SDHB: 9 (6%), SDHD: 2 (1.3%) and NF1: 2 (1.3%)). Amongst the 30 patients with familial and/or syndromic presentation, all had germline mutations (VHL: 14 (46.7%), RET: 13 (43.3%), SDHB: 1 (3.3%) and NF1: 2 (6.7%)). Out of 120 patients with apparently sporadic presentation, 19 (15.8%) had a germline mutation (VHL: 9 (7.5%), SDHB: 8 (6.7%) and SDHD: 2 (1.7%)). Mutation carriers were younger (29.9 ± 14.5 years vs 36.8 ± 14.9; P = 0.01) and had a higher prevalence of bilateral PCC (26.5% vs 2.9%, P < 0.001) and multifocal tumours (12.2% vs 0.96%, P = 0.06). Based on syndromic features, metastasis, location and number of tumours, around 96% mutations in our cohort could be detected by appropriately selected single gene testing. CONCLUSION: Asian Indians with PCC/PGL differ from Western cohorts in having preponderance of VHL mutations in multifocal tumours and apparently sporadic unilateral PCC. Syndromic presentation, metastasis, location and number of PCC/PGL can be effectively used for guiding genetic prioritisation.
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Neoplasias de las Glándulas Suprarrenales/genética , Mutación de Línea Germinal , Paraganglioma/genética , Feocromocitoma/genética , Neoplasias de las Glándulas Suprarrenales/patología , Adulto , Factores de Edad , Femenino , Estudios de Asociación Genética , Predisposición Genética a la Enfermedad , Humanos , Masculino , Proteínas de la Membrana/genética , Persona de Mediana Edad , Paraganglioma/patología , Feocromocitoma/patología , Proteínas Proto-Oncogénicas c-ret/genética , Succinato Deshidrogenasa/genética , Proteína Supresora de Tumores del Síndrome de Von Hippel-Lindau/genética , Adulto JovenRESUMEN
BACKGROUND: Bilateral adrenal masses may have aetiologies like hyperplasia and infiltrative lesions, besides tumours. Hyperplastic and infiltrative lesions may have coexisting hypocortisolism. Bilateral tumours are likely to have hereditary/syndromic associations. The data on clinical profile of bilateral adrenal masses are limited. AIMS: To analyse clinical, biochemical and radiological features, and management outcomes in patients with bilateral adrenal masses. METHODS: Retrospective analysis of 70 patients with bilateral adrenal masses presenting to a single tertiary care endocrine centre from western India (2002-2015). RESULTS: The most common aetiology was pheochromocytoma (40%), followed by tuberculosis (27.1%), primary adrenal lymphoma (PAL) (10%), metastases (5.7%), non-functioning adenomas (4.3%), primary bilateral macronodular adrenal hyperplasia (4.3%), and others (8.6%). Age at presentation was less in patients with pheochromocytoma (33 years) and tuberculosis (41 years) compared with PAL (48 years) and metastases (61 years) (P<0.001). The presenting symptoms for pheochromocytoma were hyperadrenergic spells (54%) and abdominal pain (29%), whereas tuberculosis presented with adrenal insufficiency (AI) (95%). The presenting symptoms for PAL were AI (57%) and abdominal pain (43%), whereas all cases of metastasis had abdominal pain. Mean size of adrenal masses was the largest in lymphoma (5.5cm) followed by pheochromocytoma (4.8cm), metastasis (4cm) and tuberculosis (2.1cm) (P<0.001). Biochemically, most patients with pheochromocytoma (92.8%) had catecholamine excess. Hypocortisolism was common in tuberculosis (100%) and PAL (71.4%) and absent with metastases (P<0.001). CONCLUSION: In evaluation of bilateral adrenal masses, age at presentation, presenting symptoms, lesion size, and biochemical features are helpful in delineating varied underlying aetiologies.
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OBJECTIVE: To describe a case series of HRPT2- (CDC73) related hereditary primary hyperparathyroidism (PHPT) from western India. METHODS: We present a case series of 4 families (7 patients) with PHPT caused by CDC73 gene mutations. RESULTS: The mean age of presentation of the 4 index cases was 27.25 ± 9.8 years. Two family members were identified through biochemical screening (Cases 1b and 2b), while 1 mutation-positive family member did not manifest any features of PHPT or hyperparathyroidism jaw tumor syndrome (HPT-JT) syndrome (Case 2c). Biochemistry showed increased serum calcium (mean: 13.21 ± 1.24 mg/dL), low serum phosphorus (mean: 1.78 ± 0.44 mg/dL), and high parathyroid hormone (PTH, mean: 936 ± 586.9 pg/mL). All patients had a uniglandular presentation and underwent single adenoma excision initially except Cases 2a and 2b, who underwent subtotal parathyroidectomy at baseline. Two cases experienced PHPT recurrence (Cases 3 and 4), while 1 remained uncured due to parathyroid carcinoma (Case 1a). Other associated syndromic features like ossifying jaw fibromas were present in 2 patients, renal cysts in 3 patients, and uterine involvement in 2 patients. Two families had novel germline CDC73 mutations (Families 1 and 3), while the other 2 had reported mutations. Family 2 had familial isolated PHPT without any other features of HPT-JT syndrome. CONCLUSION: Our findings reaffirm the need for genetic analysis of patients with PHPT, especially those with younger age of disease onset; recurrent disease; and associated features like polycystic kidneys, endometrial involvement, ossifying jaw tumors, or parathyroid carcinoma.
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Hiperparatiroidismo/genética , Proteínas Supresoras de Tumor/genética , Adolescente , Adulto , Calcio/sangre , Análisis Mutacional de ADN , Femenino , Humanos , Hiperparatiroidismo/sangre , Hiperparatiroidismo/cirugía , India , Masculino , Persona de Mediana Edad , Mutación , Hormona Paratiroidea/sangre , Paratiroidectomía , Linaje , Fósforo/sangreRESUMEN
OBJECTIVE: Ovotesticular disorder of sex development (OT DSD) is a rare disorder of sex development characterized by the presence in the same individual of both histologically proven testis and ovary. There are scant data from the Indian subcontinent regarding this disorder. The aim of this study was to describe the clinical, biochemical, imaging, cytogenetic, surgical, and histopathologic findings and outcomes of patients with OT DSD from Western India. METHODS: The records of patients referred to our center for disorders of sex development between 2005 and 2013 were reviewed, and 7 patients were found to have histologically proven OT DSD. RESULTS: The median age at presentation was 8 years (range, 2 months to 25 years). Clinical presentation varied from genital ambiguity and inguinal swelling at birth to gynecomastia and cyclical hematuria after puberty. Karyotype was 46, XX in 6 patients and 46, XY in 1 patient. All patients underwent pelvic ultrasonography, laparoscopy, and surgery for removal of gonads not congruous with the chosen sex of rearing. Gender assignment for all the patients was done by the parents at birth, which was mainly influenced by the external genitalia and sociocultural influences, with 5 out of the 7 patients being reared as males. There was no evidence of gonadal tumors in our study. CONCLUSION: OT DSD should be considered as one of the differential diagnoses in cases of ambiguous genitalia with nonpalpable or asymmetrical gonads, pubertal gynecomastia, and cyclical hematuria, irrespective of the karyotype or internal genitalia.
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Trastornos Ovotesticulares del Desarrollo Sexual/diagnóstico , Adolescente , Adulto , Niño , Preescolar , Femenino , Humanos , India/epidemiología , Lactante , Masculino , Trastornos Ovotesticulares del Desarrollo Sexual/epidemiología , Trastornos Ovotesticulares del Desarrollo Sexual/genética , Trastornos Ovotesticulares del Desarrollo Sexual/cirugía , Adulto JovenRESUMEN
OBJECTIVE: To describe the clinical presentation, biochemistry, imaging features, and treatment outcome of patients with primary adrenal lymphoma (PAL) presenting to a single tertiary care center. METHODS: We performed a retrospective analysis of case records of 7 patients diagnosed with PAL between January 2011 and May 2014 at our institution in Mumbai, India. RESULTS: Median age of presentation in our series was 48 years (range, 41 to 60 years), with a male to female ratio of 6:1. Bilateral adrenal involvement was seen in 4 of 7 patients (58%). Adrenal insufficiency (AI) was seen in 3 of the 4 patients with bilateral involvement (75%). Computed tomography showed slight to moderate contrast enhancement of adrenal masses in 4 of 5 patients (80%). Diffuse, large, B-cell lymphoma (DLBCL) was the most common immunophenotype (85%). One patient died due to rapid disease progression even before starting chemotherapy. Six patients were treated with chemotherapy and/or external beam radiotherapy. After 1 year, 2 more patients had died, whereas 4 patients were in remission. CONCLUSION: PAL should always be considered in differential diagnosis of bilateral adrenal mass with AI. DLBCL is the most common histologic subtype of PAL. Despite treatment, long-term prognosis of PAL remains poor.
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Neoplasias de las Glándulas Suprarrenales/diagnóstico , Linfoma de Células B Grandes Difuso/diagnóstico , Adulto , Femenino , Humanos , India , Masculino , Persona de Mediana Edad , Estudios RetrospectivosRESUMEN
Cyanosis is a physical finding that can occur at any age but presents a great challenge as the causes are multiple and varied. When patients present with cyanosis and dyspnoea that are unrelated to cardiopulmonary causes, methaemoglobinaemia should be considered as a possible diagnosis although rare. Methaemoglobinaemia can be asymptomatic even when methaemoglobin (metHb) levels are as high as 40% of the total haemoglobin values. Although acquired methaemoglobinaemia caused by environmental oxidizing agents is common; congenital deficiency of the innate reducing enzymes is so rare that very few cases have been documented. We report this case of type I congenital methaemoglobinaemia.
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Cianosis/etiología , Citocromo-B(5) Reductasa/deficiencia , Metahemoglobinemia/complicaciones , Metahemoglobinemia/diagnóstico , Adolescente , Cianosis/diagnóstico , Humanos , MasculinoRESUMEN
OBJECTIVE: Cushing's macroadenoma as a cause of Cushing's disease is less common than microadenoma. The data on nature and behaviour of Cushing's macroadenoma are limited to a few case series. We studied clinical, biochemical and imaging characteristics of macroadenoma and their long-term treatment outcomes. METHOD: Retrospective analysis of 40 patients with macroadenoma managed at our centre from 1997 to 2013. RESULTS: Of 40 patients, there were 15 (37·5%) males and 25 (62·5%) females. Mean age at presentation was 26·7 ± 9·3 years. Visual field defects and/or cranial nerve palsies were found in 15 cases at presentation. Mean maximum tumour dimension was 20·83 ± 10·74 mm, and parasellar extension was seen in 25 (62·5%) patients. Plasma ACTH/maximum tumour dimension and 8 am serum cortisol/maximum tumour dimension decreased with increasing tumour size. Sixteen patients (40%) had remission (4: immediate, 12: delayed) after first transsphenoidal surgery (TSS). Larger tumour size and parasellar extension were predictors of failure to achieve remission. Four patients relapsed; noticeably all of them had delayed remission. Among the persistent and relapsed cases, second TSS was successful in two of eight patients, whereas 11 of 16 patients achieved remission after a mean duration of 12·14 ± 8·41 months postradiotherapy. CONCLUSION: Younger age at presentation and larger tumour size compared with previous series were distinctive features of our series. Large tumour size and parasellar extension were negative predictors of surgical remission. Delayed remission was seen in significant proportion of patients, but one-third later relapsed. Radiotherapy was an effective second-line treatment modality.