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Spondyloocular syndrome (SOS) is a rare autosomal recessive skeletal and ocular disorder with variable phenotypes. It is caused by pathogenic mutation in the XYLT2 gene, which encodes the enzyme xylo-transferase, necessary for the synthesis of proteoglycan. It is characterized by generalized osteoporosis, short stature, hearing impairment, eye abnormalities, and cardiac defects. Till date only 24 cases have been reported worldwide with no cases documented from India. We subjected the patient to relevant biochemical investigations and Dual Energy X-ray Absorptiometry (DEXA) scan along with Next Generation Clinical Exome Sequencing (NGCES). We report a case of 23-year-old male who presented with recurrent long bone fractures, congenital heart defects, eye abnormalities (bilateral corneal opacities and atrophic bulbi), and short stature. In addition, our patient also had genu valgum and right-sided hydrocele which have never been reported in SOS till date. On genetic analysis, NGCES revealed a novel pathogenic frameshift variant c.191_192 delCA, p.(Thr64fs*22) in the XYLT2 gene. The patient is doing well on six monthly zoledronic acid infusions.
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Mutación , Fenotipo , Humanos , Masculino , Adulto Joven , India , Mutación/genética , Pentosiltransferasa/genética , AdultoRESUMEN
OBJECTIVES: The genetic causes of pituitary stalk interruption syndrome (PSIS) remain elusive in 95â¯% of cases. The roundabout receptor-1 gene (ROBO1) plays critical roles in axonal guidance and cell migration. Recently, mutations in the ROBO1 gene have been reported patients with PSIS. CASE PRESENTATION: We report a 2.9-year-old boy with PSIS who presented with combined pituitary hormone deficiency, central diabetes insipidus, and the classical triad of MRI findings. Through clinical exome sequencing using next-generation sequencing techniques, a previously unidentified novel heterozygous frame shift mutation in the ROBO1 gene was identified. This is the first report of ROBO1 mutation associated with posterior pituitary dysfunction. CONCLUSIONS: We conclude and emphasize that ROBO1 should be investigated in patients with PSIS. Our case is unique in the published literature in that we are first time reporting posterior pituitary dysfunction as manifestation of ROBO1 mutation. The full clinical spectrum of the mutations may not be fully known.
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Diabetes Insípida Neurogénica , Hipopituitarismo , Mutación , Proteínas del Tejido Nervioso , Receptores Inmunológicos , Proteínas Roundabout , Humanos , Masculino , Receptores Inmunológicos/genética , Receptores Inmunológicos/deficiencia , Proteínas del Tejido Nervioso/genética , Hipopituitarismo/genética , Hipopituitarismo/diagnóstico , Preescolar , Diabetes Insípida Neurogénica/genética , Hipófisis/diagnóstico por imagen , Hipófisis/patología , Hipófisis/anomalías , PronósticoRESUMEN
Background: Hyperprolactinemia is associated with obesity, dyslipidemia, insulin resistance, and low-grade inflammation which may promote endothelial dysfunction (EnD). Limited work has been done on EnD in prolactinomas and we, therefore, studied serum markers of inflammation and EnD in patients with prolactinomas before and after treatment with dopamine agonists. Methodology: Fifty-six treatment naïve patients with prolactinomas and fifty-three (apparently healthy age and sex-matched) controls were enrolled in the study and subjected to clinical assessment and laboratory investigations including blood glucose, total cholesterol, triglycerides, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, urea, creatinine, uric acid, erythrocyte sedimentation rate (ESR), highly sensitive C-reactive protein (hsCRP) and markers of EnD i.e., intercellular adhesion molecule-1 (ICAM-1) and vascular cell adhesion molecule-1 (VCAM-1). Patients were treated with a dopamine agonist (cabergoline) and parameters (like ESR, hsCRP, ICAM-1, and VCAM-1) were measured at 12 weeks. Results: The majority of the patients (84%) were female, more than half (52%) had metabolic syndrome and over a third (36%) were obese. Blood glucose fasting, HbA1c, lipid fractions, ESR, hsCRP, ICAM-1, and VCAM-1 were significantly higher in patients than in controls. Median ICAM-1 was 1331.95 ng/ml (IQR 803.43-1825.99) in patients vs 753.04 ng/ml (IQR 402.04-871.55) in controls, P < 0.001 and median VCAM-1in patients was 971.35 ng/ml (IQR 695.03-1285.23) as against 634.56 ng/ml (IQR 177.49-946.50) in controls, p0.001. Serum ICAM-1 and VCAM-1 correlated positively with hsCRP. On multivariate regression analysis, serum hsCRP was the only significant predictor of change in ICAM-1 and VCAM-1. Normalization of serum PRL with CAB resulted in a significant decrease in metabolic parameters, ESR, hsCRP, ICAM-1, and VCAM-1. Conclusion: Hyperprolactinemia because of prolactinoma is associated with EnD secondary to systemic inflammation and metabolic abnormalities which improve after treatment with DA.
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Background and objective Individuals with prolactinoma exhibit elevated rates of obesity, metabolic syndrome (MS), and dyslipidemia compared to their healthy counterparts. However, there is a lack of data regarding metabolic variance between male and female prolactinoma patients. Consequently, this study aimed to investigate and compare sex-specific discrepancies in metabolic abnormalities among individuals diagnosed with prolactinoma. Methods In this prospective study, 80 treatment-naïve patients with prolactinoma (12 males and 68 females) underwent clinical assessments and laboratory investigations. The measured parameters included blood glucose, total cholesterol (TC), triglycerides (TG), LDL cholesterol (LDL-C), HDL cholesterol (HDL-C), urea, creatinine, uric acid, and blood glucose levels. The patients were treated with cabergoline, a dopamine agonist, and reevaluated after 12 weeks. Results Forty-eight patients had microprolactinomas (all females), and 32 had macroprolactinomas (20 females, 12 males). The mean age was 28.30±7.49 years for females and 28.91±7.12 years for males (p=0.71). The median symptom duration was 12 months (range 1-72 months, IQR 4-16 months), with no significant difference between males (median 12 months, IQR 5-54 months) and females (median 12 months, IQR 10-24 months, p=0.620). The median serum prolactin (PRL) was 988 ng/mL (IQR 471-1,439) in males and 165 ng/mL (IQR 90-425) in females (p<0.05). Males showed higher HbA1c, BGF, TC, TG, LDL-C, and higher rates of obesity, MS, and diabetes mellitus. Treatment with cabergoline resulted in significant improvements in the HbA1c, BGF, TC, TG, and LDL-C levels. Conclusion Males with prolactinomas had larger tumor sizes and higher serum PRL levels than females. Additionally, males exhibited worse metabolic parameters than females. However, there was no significant difference in the duration of symptoms or age at diagnosis between the two groups.
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OBJECTIVE: Patients with Sheehan syndrome (SS) are predisposed to coronary artery disease (CAD) due to risk factors like abdominal obesity, dyslipidemia and chronic inflammation. In addition to estimate CAD risk enhancers like high sensitive C reactive protein (hsCRP), apolipoprotein B (ApoB) and lipoprotein A [Lp(a)], this study applies Framingham risk score (FRS) and coronary artery calcium (CAC) score to compute a 10-year probability of cardiovascular (CV) events in SS patients. DESIGN: Case-control study Sixty-three SS patients, on a stable hormonal replacement treatment except for growth hormone and 65 age, body mass index and parity-matched controls. MEASUREMENTS: Measurement of serum hsCRP, ApoB and Lp(a) and estimation of CAC with 16-row multislice computed tomography scanner. RESULTS: The concentrations of hsCRP, ApoB and Lp(a) were significantly higher in SS patients than in controls (p < .01). After calculating FRS, 95.2% of SS patients were classified as low risk, 4.8% as intermediate risk and all controls were classified as low risk for probable CV events. CAC was detected in 50.7% SS patients and 7.6% controls (p = .006). According to the CAC score, 26.9% SS patients were classified as at risk (CAC > 10) for incident CV events as against 1.6% controls. The mean Multi-Ethnic Study of Atherosclerosis (MESA) score was significantly higher in patients with SS than controls. CAC corelated significantly with fasting blood glucose (r = .316), ApoB (r = .549), LP(a) (r = .310) and FRS (r = .294). CONCLUSION: Significant number of asymptomatic SS patients have high coronary artery calcium score and are classified at risk for CAD.
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Enfermedad de la Arteria Coronaria , Hipopituitarismo , Calcificación Vascular , Humanos , Proteína C-Reactiva/metabolismo , Calcio , Estudios de Casos y Controles , Enfermedad de la Arteria Coronaria/etiología , Enfermedad de la Arteria Coronaria/metabolismo , Vasos Coronarios , Prevalencia , Factores de Riesgo , Calcificación Vascular/etiología , Calcificación Vascular/metabolismo , Hipopituitarismo/complicacionesRESUMEN
Neonatal severe hyperparathyroidism is a rare disorder arising from inherited defects in the calcium sensing receptor (CaSR) that presents early in life with severe hypercalcemia, failure to thrive, and developmental retardation. The authors describe an infant with neonatal severe hyperparathyroidism due to homozygous CaSR gene mutation presenting with recurrent episodes of severe hypercalcemia, growth retardation, and developmental delay. Medical management served as an effective bridge therapy to surgery. Total parathyroidectomy with right hemithyroidectomy was performed at 7 mo of age and resulted in successful cure and normalization of growth and developmental milestones. Timely medical and surgical management can help prevent mortality and morbidity in the form of neurodevelopmental sequelae. Life-long monitoring and treatment is mandatory for the resultant hypoparathyroidism.
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Hipercalcemia , Hiperparatiroidismo Primario , Calcio/uso terapéutico , Homocigoto , Humanos , Hipercalcemia/diagnóstico , Hipercalcemia/etiología , Hipercalcemia/terapia , Hiperparatiroidismo Primario/genética , Lactante , Recién Nacido , Enfermedades del Recién Nacido , Mutación , Receptores Sensibles al Calcio/genéticaRESUMEN
Background: Maturity onset diabetes of young (MODY) is considered to be the most underdiagnosed condition. The correct diagnosis of MODY has a definite bearing on the outcome and clinical course of the disease. We aim to determine the prevalence and clinical profile of MODY among young diabetic patients attending at Department of Endocrinology, a tertiary care institute in North India. Methods: It was a cross-sectional study involving all consecutive consenting patients with diabetes and age of onset ≤35 years. A total of 1,094 patients were included in this study, of whom 858 were having age of onset of diabetes <25 years. All patients were screened for MODY using clinical criteria and MODY Probability calculator (available on diabetesgenes.org). Patients with high clinical probability of MODY having negative anti-GAD65 antibody and fasting serum C-peptide levels >0.6 ng/mL were subjected to the Ala98 Val polymorphism (SNP) in hepatocyte nuclear factor (HNF) 1a gene. Results: The prevalence of MODY among the study cohort as per clinical criteria was found to be 7.7%. Males constituted the majority of patients (male vs female, 56% vs. 44%; P < 0.001). The patients with MODY were younger (p < 0.001), leaner (p < 0.001), had younger age at onset of diabetes mellitus (p < 0.001), and lower frequency of features of insulin resistance in the form of skin tags and acanthosis nigricans. Among the 40 patients who were subjected to Ala98Val polymorphism of HNF1α gene (MODY 3), the mutant genotype was seen in 20 (50%) patients. Conclusion: We report a higher prevalence of MODY in our young diabetic patients. A high index of suspicion is required to diagnose MODY as misdiagnosis and inappropriate treatment may have a significant impact on quality-of-life (QOL) with increased cost and unnecessary treatment with insulin.
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Primary hyperaldosteronism (PA) is a common disease with a prevalence of 5-10% in unselected patients with hypertension. Medullary nephrocalcinosis is a radiological diagnosis and refers to diffuse calcification in the renal parenchyma. The three commonest causes of nephrocalcinosis are hyperparathyroidism, distal renal tubular acidosis, and medullary sponge kidney. PA is not a recognized cause of nephrocalcinosis. There are a few case reports linking PA with nephrocalcinosis published till date. In this case series, we report three cases where PA was possibly associated with medullary nephrocalcinosis. In all three cases, the common causes of nephrocalcinosis were excluded by careful clinical history, biochemical evaluation, and radiological findings. We conclude and emphasize that a diagnosis of PA as an etiology of medullary nephrocalcinosis should be sought after common causes have been excluded, at least in those with hypertension that is difficult to control.
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To report the clinical, hormonal, and genetic features of a female with multiple endocrine neoplasia type 1 (MEN1) with multiple uterine leiomyomas. The study was conducted at a tertiary care endocrinology unit. A 27-year-old female was diagnosed with prolactinoma, primary hyperparathyroidism (PHPT), and multiple uterine leiomyomas. In view of prolactinoma and PHPT, a clinical diagnosis of MEN1 syndrome was made. She also had multiple uterine leiomyomas for which myomectomy was done. Genetic analysis revealed a novel mutation c.1763C>T, p.S588L of MEN1 gene. The association of uterine leiomyomas with MEN1 is exceptionally rare. This is the first report of multiple uterine leiomyomas in a patient with MEN1 from our country and the first report of this mutation in the MEN1 gene in the world. We conclude that in the presence of multiple uterine leiomyomas and endocrine tumor, clinical examination and laboratory evaluation may uncover the diagnosis of MEN1 syndrome in these patients.
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PURPOSE: To present the clinical data, investigative profile, and management of patients with disorders of sex development (DSD) from the endocrine unit of a tertiary care university hospital. MATERIALS AND METHODS: This retrospective study included 73 cases of DSD, evaluated and managed at Department of Endocrinology, Sher-i-Kashmir Institute of Medical Sciences, Srinagar, Kashmir, over a period of 10 years from September 2008 to August 2018. RESULTS: Twenty-nine patients (39.7%) had 46 XY DSD and twenty-nine patients (39.7%) had 46 XX. Sex chromosome DSD was diagnosed in 15 (20.5%) patients. Of 29 patients with 46 XY DSD, 17 (58.6%) had 5α-reductase type-2 deficiency (5α-RD) and 6 (20.7%) had complete androgen insensitivity syndrome. In our patients with 5α-RD, the history of consanguinity was documented in nine (52.9%) patients. Two patients had testosterone biosynthetic defect and one patient had partial androgen insensitivity syndrome. Of 29 patients with 46 XX DSD, 16 (55.1%) had congenital adrenal hyperplasia (CAH). Of 15 patients with sex chromosome DSD, 7 patients had Turner's syndrome, 7 had Klinefelter's syndrome, and 1 patient had mixed gonadal dysgenesis. CONCLUSION: In our study, equal number of patients had 46 XY DSD and 46 XX DSD. We are for the first time reporting from India that the most common cause of 46 XY DSD is 5α-RD, whereas CAH is the most common cause of 46 XX DSD as reported previously.
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BACKGROUND: Fibrocalculous pancreatic diabetes (FCPD) is a secondary form of diabetes, described from several tropical countries, including India. We described the existence of this entity in the subtropical region-the Kashmir valley of the Indian subcontinent and compared the clinical characteristics of these patients with type 2 diabetes mellitus (T2DM) patients. AIM: The present study aimed to compare the clinical characteristics of patients with FCPD and those with T2DM to identify the characteristics distinctive of FCPD. MATERIALS AND METHODS: A total of 124 patients with FCPD were compared with 124 patients with T2DM matched for age and duration of diabetes. Biochemical parameters and microvascular and macrovascular complications were assessed in all patients. Multivariate regression analyses were performed to study the determinants of microvascular complications in both groups. RESULTS: FCPD patients had significantly lower serum cholesterol, serum triglyceride, and serum calcium levels but higher glycosylated hemoglobin levels compared to T2DM patients. FCPD participants were significantly leaner. The prevalence of retinopathy, neuropathy, and nephropathy was similar between the two. Five T2DM patients had documented cardiovascular disease compared to one in FCPD patients (P < 0.05). Multiple logistic regression analysis revealed glycosylated hemoglobin and duration of diabetes to be significantly associated with retinopathy and nephropathy in T2DM. Among FCPD patients, glycosylated hemoglobin showed a strong association with retinopathy as well as nephropathy. BMI showed a significant negative association with nephropathy in FCPD patients. Age and age at onset showed a strong association with neuropathy in FCPD patients while the duration of diabetes showed the association with neuropathy (P = 0.015) in T2DM. CONCLUSION: There are several differences in the phenotype, biochemical parameters, and prevalence of diabetic complications between patients with FCPD and T2DM.
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INTRODUCTION: The management of acromegaly, a rare and potentially curable disease, has undergone a paradigm shift in the past few decades. Many of the treatment modalities recommended for acromegaly are either too expensive or not available in many parts of India. There is a dearth of treatment and outcome data in Indian patients. AIM: Our aim was to study the clinical presentation, hormonal profile, radiology, management, and outcome of the disease at our center. MATERIALS AND METHODS: Fifty one patients with acromegaly who attended the Department of Endocrinology, SKIMS, Srinagar, between October 2015 and April 2017, were included in the study. Clinical and hormonal profiles, comorbidities, treatment modalities, and outcome were evaluated. RESULTS: The gender distribution was equal with the mean age of 42.3 ± 10.9 years at diagnosis. The majority (41) of the patients had macroadenoma. The most common presenting manifestations were acral enlargement and headache. Hypertension was present in 23, musculoskeletal manifestations in 19, and diabetes mellitus in 11 patients. Surgery was the most common method of treatment. Preoperatively only one patient with micro-adenoma had hypocortisolism, which was persistent in postoperative period, while no patient had preoperative or postoperative hypothyroidism or hypogonadism. As per the present consensus criteria, 23.7% patients achieved disease control (40% with microadenoma and only 19.5% with macroadenoma). The surgical complications occurred in 5 patients-CSF leak in 3 meningitis in 2 patients all except one having macroadenoma. CONCLUSIONS: The presentation of disease was generally comparable to that reported in literature. Cure rates were significantly lower than those reported from many large centers.
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ABSTRACT Objectives The differentiation between the various etiologies of thyrotoxicosis, including those with hyperthyroidism (especially Graves' disease [GD], the most common cause of hyperthyroidism) and without hyperthyroidism (like thyroiditis), is an important step in planning specific therapy. Technetium-99m (99mTc) pertechnetate thyroid scanning is the gold standard in differentiating GD from thyroiditis. However, this technique has limited availability, is contraindicated in pregnancy and lactation, and is not helpful in cases with history of recent exposure to excess iodine. The aim of this study was to identify the diagnostic value of the peak systolic velocity of the inferior thyroid artery (PSV-ITA) assessed by color-flow Doppler ultrasound (CFDU) and compare the sensitivity and specificity of this method versus 99mTc pertechnetate thyroid uptake. Subjects and methods We prospectively analyzed 65 patients (46 with GD and 19 with thyroiditis). All patients were evaluated with clinical history and physical examination and underwent 99mTc pertechnetate scanning and measurement of TRAb levels and PSV-ITA values by CFDU. The diagnosis was based on findings from signs and symptoms, physical examination, and 99mTc pertechnetate uptake. Results Patients with GD had significantly higher mean PSV-ITA values than those with thyroiditis. At a mean PSV-ITA cutoff value of 30 cm/sec, PSV-ITA discriminated GD from thyroiditis with a sensitivity of 91% and specificity of 89%. Conclusion Measurement of PSV-ITA by CFDU is a good diagnostic approach to discriminate between GD and thyroiditis, with sensitivity and specificity values comparable to those of 99mTc pertechnetate thyroid uptake.
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Humanos , Masculino , Femenino , Adulto , Persona de Mediana Edad , Glándula Tiroides/diagnóstico por imagen , Tiroiditis/diagnóstico por imagen , Enfermedad de Graves/diagnóstico por imagen , Glándula Tiroides/irrigación sanguínea , Velocidad del Flujo Sanguíneo , Sensibilidad y Especificidad , Pertecnetato de Sodio Tc 99m , Diagnóstico DiferencialRESUMEN
OBJECTIVES: The differentiation between the various etiologies of thyrotoxicosis, including those with hyperthyroidism (especially Graves' disease [GD], the most common cause of hyperthyroidism) and without hyperthyroidism (like thyroiditis), is an important step in planning specific therapy. Technetium-99m (99mTc) pertechnetate thyroid scanning is the gold standard in differentiating GD from thyroiditis. However, this technique has limited availability, is contraindicated in pregnancy and lactation, and is not helpful in cases with history of recent exposure to excess iodine. The aim of this study was to identify the diagnostic value of the peak systolic velocity of the inferior thyroid artery (PSV-ITA) assessed by color-flow Doppler ultrasound (CFDU) and compare the sensitivity and specificity of this method versus 99mTc pertechnetate thyroid uptake. SUBJECTS AND METHODS: We prospectively analyzed 65 patients (46 with GD and 19 with thyroiditis). All patients were evaluated with clinical history and physical examination and underwent 99mTc pertechnetate scanning and measurement of TRAb levels and PSV-ITA values by CFDU. The diagnosis was based on findings from signs and symptoms, physical examination, and 99mTc pertechnetate uptake. RESULTS: Patients with GD had significantly higher mean PSV-ITA values than those with thyroiditis. At a mean PSV-ITA cutoff value of 30 cm/sec, PSV-ITA discriminated GD from thyroiditis with a sensitivity of 91% and specificity of 89%. CONCLUSION: Measurement of PSV-ITA by CFDU is a good diagnostic approach to discriminate between GD and thyroiditis, with sensitivity and specificity values comparable to those of 99mTc pertechnetate thyroid uptake.
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Enfermedad de Graves/diagnóstico por imagen , Glándula Tiroides/diagnóstico por imagen , Tiroiditis/diagnóstico por imagen , Adulto , Velocidad del Flujo Sanguíneo , Diagnóstico Diferencial , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Sensibilidad y Especificidad , Pertecnetato de Sodio Tc 99m , Glándula Tiroides/irrigación sanguíneaRESUMEN
BACKGROUND: Nephrolithiasis is a common complication of primary hyperparathyroidism (PHPT), and in a subgroup of patients stones are clinically silent. Patients with silent and symptomatic stones may differ biochemically. There is a scarcity of data available comparing patients with silent and symptomatic renal stones in PHPT. AIMS: To characterize patients with PHPT with nephrolithiais and to compare patients with silent and symptomatic stones. MATERIALS AND METHODS: We reviewed clinical data of 186 patients with PHPT managed at our center from January 1996 to December 2017. Silent renal stones were defined as ultrasonography finding of renal stones without symptoms. Symptomatic renal stones were defined as those with symptoms or a history of graveluria or any procedure for nephrolithiasis. A 5-mm diameter was set as the cut-off between micro- and macrolithiasis. We compared those with (n = 95) and without (n = 91) stones, and, among stone formers, those with symptoms (n = 66) and silent (n = 29) were compared. RESULTS: There was no significant difference between stone formers and nonstone formers with respect to biochemical parameters. Patients with silent renal stones had significantly lower serum calcium and higher phosphate, than those with symptomatic stones. Most (75%) patients with silent renal stones had microlithiais, while only a fifth (22%) with symptomatic renal stones had microlithiasis. CONCLUSION: Nephrolithiasis is a common complication of PHPT. Most patients with silent renal stones had microlithiasis and biochemical features of less severe disease. Patients with silent renal stones may represent early mild stage of PHPT.
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Isolated FSH deficiency due to mutations in the gene for ß-subunit of FSH is an extremely rare autosomal recessive disease of which only eleven cases have been reported so far. The clinical features include absent breast development and primary amenorrhea in females and azoospermia with normal testosterone levels in males. In this study we report two Kashmiri sisters born to native Kashmiri consanguineous parents with failure of onset of puberty. Hormonal evaluation revealed undetectable serum FSH and estradiol and high LH. Genetic analysis of FSH ß-gene identified one nonsense mutation (c.343C > T:p. Arg115Stop) in exon 3. The two sisters were homozygous for this nonsense mutation while the parents were heterozygous. Incorporation of a stop codon at 115 codon position is predicted to result in the formation of truncated FSH ß protein, lacking 14 amino acid from the carboxy-terminus (p.Arg115Stop). Very recently, this same mutation was reported for the first time in a Chinese male. Ours is the first ever report of any FSH ß-subunit mutation from the Indian sub-continent and this particular mutation in any female from anywhere in the world. We conclude and emphasize that this diagnosis should be considered in girls with delayed puberty and selective deficiency of FSH.
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Amenorrea/genética , Hormona Folículo Estimulante de Subunidad beta/deficiencia , Hormona Folículo Estimulante de Subunidad beta/genética , Pubertad Tardía/genética , Adolescente , Adulto , Femenino , Humanos , MutaciónRESUMEN
OBJECTIVE: Growth retardation is common in children with extrahepatic portal vein obstruction (EHPVO) and growth hormone (GH) resistance may play a dominant role. The aim of this study was to ascertain growth parameters and growth-related hormones in children with EHPVO, comparing with controls and to study the response of shunt surgery on growth parameters. MATERIALS AND METHODS: The auxological and growth-related hormone profile (GH; insulin-like growth factor binding protein-3 [IGFBP-3] and IGF-1) of thirty children with EHPVO were compared with controls. The effect of shunt surgery on growth parameters in 12 children was also studied. RESULTS: The mean height standard deviation score (HSDS) of cases (-1.797 ± 1.146) was significantly lower than that of controls (-0.036 ± 0.796); the mean weight SDS of cases (-1.258 ± 0.743) was also lower than that of controls (-0.004 ± 0.533). The mean GH level of cases (5.00 ± 6.46 ng/ml) was significantly higher than that of controls (1.78 ± 2.04 ng/ml). The mean IGF-1 level of cases (100.25 ± 35.93 ng/ml) was significantly lower as compared to controls (233.53 ± 115.06 ng/ml) as was the mean IGFBP-3 level (2976.53 ± 1212.82 ng/ml in cases and 5183.28 ± 1531.28 ng/ml in controls). In 12 patients who underwent shunt surgery, growth parameters significantly improved. CONCLUSIONS: Marked decrease in weight and height SDSs associated with GH resistance is seen in children with EHPVO, which improves with shunt surgery.
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BACKGROUND: Although primary hyperparathyroidism (PHPT) has become an asymptomatic disease in the West, in India, PHPT is still an uncommonly diagnosed, overtly symptomatic disease with skeletal, muscular, and renal manifestations. AIMS: To describe the profile and surgical outcome of 78 consecutive PHPT patients over a period of two decades at a single center. MATERIALS AND METHODS: All patients who underwent evaluation and surgery for PHPT from January 1996 to December 2015 were included. Evaluation included measurement of serum total calcium, inorganic phosphorus, alkaline phosphatase, intact parathyroid hormone, 25-hydroxy Vitamin D, 24 hour urinary calcium and radiological survey. Ultrasonography neck and technetium-99m sestamibi scan were used for preoperative localization. RESULTS: A total of 78 patients were identified during the two decades of whom 29 patients were studied retrospectively and 49 patients prospectively. Mean age of patients was 44.72 ± 12.46, and male:female ratio was 1:6. The most common presenting features were nephrolithiasis and/or nephrocalcinosis (64.10%), bone pain (44.1%), abdominal pain (39%), constipation (26%), and myopathy (14.10%). Fractures were present only in 10.25%, and brown tumors in 6.41% patients. The cure rate in our series was 96.15%. The mean parathyroid gland weight was 2.05 ± 3.03 g. None of the 41 patients in whom long-term follow-up was available, had recurrence of PHPT. CONCLUSIONS: The profile of PHPT is changing with older age at presentation, and emergence of renal stone disease and decline in overt skeletal disease as common presentation. The parathyroid weight in our study resembles that reported from developed countries.
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OBJECTIVE: Data on cardiac abnormalities in females with untreated hypopituitarism are limited. We investigated echocardiographic abnormalities in females with untreated hypopituitarism and their response to treatment. METHODS: Twenty-three females with treatment-naïve hypopituitarism and 30 matched healthy controls were evaluated for cardiac structure and function. Echocardiographic evaluation was done at presentation and after achieving a euthyroid and eucortisol state. RESULTS: Fourteen (61%) patients had mitral regurgitation, and 11 (48%) had pericardial effusion as against none among controls. Indices of left ventricular (LV) size like LV end diastolic dimension (LVEDD; 44.5 ± 3.5 mm in cases vs. 47.6 ± 3.8 mm in controls, P = .004), and LV diastolic volume (LVEDV; 91.8 ± 18.0 mL versus 106.5 ± 20.4 mL, P = .009) were significantly lower in the SS group compared with controls. LV mass (LVM) was 70.8 ± 19.2 g in cases and 108.0 ± 33.2 g in controls (P = .02). Similarly, indices of LV systolic function like stroke volume (SV; 59.1 ± 12.0 mL in cases and 74.4 ± 15.8 mL in controls; P = .000), ejection fraction (EF; 64.3 ± 6.2 % in cases against 69.9 ± 9.2 % in controls; P = .03), and fractional shortening (FS; 34.9 ± 4.7% versus 40.1 ± 4.4%, P = .000) were significantly decreased in patients compared with controls. Cardiac abnormalities normalized with restoration of a euthyroid and eucortisol state. CONCLUSION: Pericardial effusion, mitral regurgitation, and diminished LVM are common in females with untreated hypopituitarism. ABBREVIATIONS: ACTH = adrenocorticotrophic hormone BMI = body mass index DT = deceleration time EDV = end-diastolic volume EF = ejection fraction FS = fractional shortening GH = growth hormone IGF-1 = insulin growth factor-1 ITT = insulin tolerance test IVSd = interventricular septal diameter LH = luteinizing hormone LV = left ventricular LVEDD = LV end diastolic dimension LVEDV = LV end diastolic volume LVM = LV mass MRI = magnetic resonance imaging MVP = mitral value prolapse PPH = postpartum hemorrhage PWd = posterior wall diameter SS = Sheehan syndrome SV = stroke volume T3 = triiodothyronine T4 = thyroxine TSH = thyroid-stimulating hormone.
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Cardiopatías/epidemiología , Corazón/fisiopatología , Hipopituitarismo/epidemiología , Hipopituitarismo/fisiopatología , Miocardio/patología , Adulto , Cardiomiopatías/complicaciones , Cardiomiopatías/diagnóstico , Cardiomiopatías/epidemiología , Estudios de Casos y Controles , Ecocardiografía , Femenino , Corazón/diagnóstico por imagen , Cardiopatías/complicaciones , Cardiopatías/diagnóstico , Humanos , Hipopituitarismo/complicaciones , Persona de Mediana Edad , Insuficiencia de la Válvula Mitral/epidemiología , Derrame Pericárdico/epidemiología , Volumen Sistólico , Función Ventricular IzquierdaRESUMEN
BACKGROUND: Emphysematous pyelonephritis (EPN) is a necrotizing infection which results in gas within the renal parenchyma, collecting system, or perinephric tissue. A majority of cases occur in patients with diabetes mellitus (DM). In EPN, early aggressive medical treatment may avoid nephrectomy. AIMS: The aim of this study was to analyze the characteristics of patients with EPN with respect to patient demographics, clinical presentation, diagnostic investigations, microbiological findings, treatment modality and outcome, and the influence of prognostic factors on the outcome. MATERIALS AND METHODS: We reviewed the hospital records of 26 patients with EPN for clinical, laboratory, radiological, and microbiological findings, treatments given, and outcome. The severity of EPN was graded as per the Huang classification. We applied the reported prognostic factors to our patients to find out whether these factors correlated with failure of conservative treatment. RESULTS: All the study subjects had DM and all but two of them were females. The majority of our patients (61.5%) had extensive EPN (class 3 or 4) and majority (76.9%) had two or more bad prognostic factors. Escherichia coli was the most common causative organism involved in 50% of our cases. Twenty-three (88.5%) of our patients responded to conservative treatment, two required nephrectomy, and one expired on conservative treatment. CONCLUSIONS: In this series of patients with EPN, all had DM, nearly all were women, and E. coli was the most frequently isolated pathogen. Nearly a third of our patients had bilateral disease. Despite the presence of two or more bad prognostic factors and extensive EPN (class 3 or 4) in a majority of our patients, conservative treatment afforded a striking success rate of 88.5%. We recommend early aggressive medical treatment and suggest that nephrectomy should be considered only if patients deteriorate or do not improve on conservative treatment.