Vijaya Sarathi | Vydehi Institute of Medical Sciences & Research Centre (original) (raw)
Papers by Vijaya Sarathi
Indian Journal of Pediatrics, Oct 16, 2019
with great interest the article entitled 'Upper and lower body segment ratios from birth to 18 ye... more with great interest the article entitled 'Upper and lower body segment ratios from birth to 18 years in children from western Maharashtra' published in IJP by Kondpalle et al. [1]. Measurement of body proportion provides a useful clinical clue in the evaluation of children and adolescents with disorders of growth and puberty. Large normative data for upper to lower body segment ratio in Indian children are lacking and I thank the authors for this great work which will help in better evaluation of Indian children with growth abnormalities. The differences in US/LS ratio observed in the present study when compared with conventional figures make the study more interesting. Using the conventional figures (1.7 at birth to 1.3 at 3 y of age), a large proportion of the Indian (western) normal infants and young children may be diagnosed to have short trunk whereas more than half of the normal adolescent girls (≥ 11 y) and boys (≥ 12 y) may be labeled eunuchoid using the conventional cut off of 0.9 [2]. The study clearly demonstrates the need for similar studies from other regions of India. Utility of few previous studies was limited due to lack of standard deviation data to infer 'what is abnormal'. Though authors note this point, the standard deviation data is not provided for the present study. Providing standard deviation and/ or 95% confidence intervals would help to improve the evaluation of Indian (western) children and adolescents with growth disorders.
Thyroid Research and Practice, 2018
Background: There are no published data on trimester-specific reference intervals for thyroid fun... more Background: There are no published data on trimester-specific reference intervals for thyroid function tests (TFTs) in south Indian pregnant women. Hence, this study was conducted to establish trimester-specific reference intervals for TFTs in south Indian pregnant women. Materials and Methods: This is a cross-sectional study conducted at a tertiary health-care center at Coastal region from South India. A total of 235 healthy women of age >18 years with uncomplicated singleton, intrauterine pregnancy who were consuming iodized salt were recruited for the study. Family history of thyroid illness, history of abortion, goiter, antithyroid peroxidase positivity, overt hypothyroidism, and overt hyperthyroidism were present in 11 (4.7%), 27 (11.5%), 50 (21.3%), 15 (6.38%), 1 (0.42%), and 3 (1.28%) had, respectively, and a total of 73 participants having one of these features were excluded from the study. A total of 162 (I trimester: 47, II trimester: 50, and III trimester: 65) women were included in the analysis to derive trimester-specific reference ranges. Results: The reference ranges for the first, second, and third trimester were 0.08–2.24, 0.42–2.84, and 0.40–3.14 μIU/ml for thyroid-stimulating hormone, 0.68–1.44, 0.59–1.21, and 0.53–1.15 ng/dl for free thyroxine 4 (FT4) and 2.08–3.48, 1.81–3.81, and 1.86–3.38 pg/ml for FT3. Conclusion: Our study reports trimester-specific reference ranges for TFTs in south Indian women from a coastal region.
Indian Journal of Endocrinology and Metabolism, 2017
Review Article IntRoductIon The "rule of 10" used to describe pheochromocytoma/ paragangliomas (P... more Review Article IntRoductIon The "rule of 10" used to describe pheochromocytoma/ paragangliomas (PCC/PGLs) is a good example of axioms that medical students often learn to remember the key characteristics of a disorder. The rule of 10 used to describe PCC/PGLs is as follows: 10% are extra-adrenal, and of those, 10% are extra-abdominal; 10% are malignant; 10% are found in children; 10% of patients are normotensive; and 10% are hereditary. [1] However, at the beginning of the 21 st century, 10% rule was dashed by a study from Neumann et al., which reported germline mutation in 24% of apparently sporadic PCC/PGL patients. [2] This study heralded the death of an axiom, as it was aptly called. [1] Data on characteristics, especially of germline mutations in patients with pediatric PCC/PGL were greatly limited till 2013. [3-5] Thereafter, few studies have reported genotype and phenotype characteristics of PCC/PGL in pediatric cohorts. From these studies, we appreciated that characteristics of pediatric PCC/PGL follow a pattern. [3-5] Hence, we have reviewed the available literature to verify the same. Methods We searched PubMed, Scopus, ProQuest, and Google Scholar for studies describing the genotype and/or phenotype characteristics of pediatric PCC/PGL cohorts published after 2000 in English language. A total of twelve studies describing the genotype and/or phenotype characteristics of pediatric PCC/PGL cohorts published after 2000 were identified; [3-14] seven cohorts with sample size <35 were excluded to avoid the confounding factors due to smaller sample size and the potential risk of getting replicated in recent larger cohorts. [8-14] The five studies had a sample size of more than 35 and included pediatric PCC/PGL cohorts from the
Journal of Clinical and Diagnostic Research, 2016
Indian Journal of Pathology & Microbiology, 2015
We discuss a case of primary hyperparathyroidism caused by a giant cystic parathyroid adenoma pre... more We discuss a case of primary hyperparathyroidism caused by a giant cystic parathyroid adenoma presenting with neck swelling and hypercalcemic crisis. Fine-needle aspiration cytology of presumed thyroid swelling from one of the two sites aspirated yielded clear fluid but was not attributed to parathyroid pathology. Elevated serum calcium and intact parathormone (iPTH) levels suggested preoperative parathyroid pathology. Ultrasound neck and sestamibi scan for parathyroid localization were not conclusive. Due to resistant hypercalcemia, the patient underwent emergency bilateral neck exploration and excision of the identified left superior parathyroid cyst along with total thyroidectomy. Monitoring of intra-operative iPTH helped complete removal of hyperfunctioning parathyroid tissue. Histopathological examination confirmed the parathyroid cyst. Cystic parathyroid adenoma should be considered in the differential diagnosis of cystic neck lesions.
Diabetes and Metabolic Syndrome: Clinical Research and Reviews, Sep 1, 2020
Objective: To determine the prevalence of hypogonadism in Asian Indian patients with type 2 diabe... more Objective: To determine the prevalence of hypogonadism in Asian Indian patients with type 2 diabetes mellitus (T2DM) and to correlate it with components of the metabolic syndrome and microvascular complications of T2DM. Methods: One hundred consecutive male patients with T2DM between 25 and 50 years of age and 50 age-matched healthy adults without diabetes underwent assessment. Calculated free testosterone was derived by using serum total testosterone and sex hormone-binding globulin. Those patients with 2 calculated free testosterone values less than 64.8 pg/mL were diagnosed as having hypogonadism. Results: Of the 100 patients with T2DM, 15 (15%) were found to have hypogonadism-7 of 29 (24%) between 31 and 40 years of age and 8 of 67 (12%) between 41 and 50 years old. None of the 4 patients between 25 and 30 years old had hypogonadism. Eleven patients (73%) had hypogonadotropic hypogonadism, and 4 (27%) had hypergonadotropic hypogonadism. Among the control subjects, the prevalence of hypogonadism was 10%. In comparison with Western data, we found a higher prevalence of hypogonadism in patients with T2DM, especially in those in the 4th decade of life. The prevalence of hypogonadism was higher in obese patients, although it did not reach statistical significance. No statistically significant correlation was observed between hypogonadism and age, duration of diabetes, glycemic control, androgen deficiency symptoms, or microvascular complications. Conclusion: The prevalence of hypogonadism was higher in the patients with diabetes than in the control subjects, although the difference did not reach statistical significance. There was no correlation of hypogonadism with components of the metabolic syndrome or microvascular complications of diabetes mellitus. (Endocr Pract. 2009;15:513-520) Abbreviations: A1C = hemoglobin A1c; BMI = body mass index; cFT = calculated free testosterone; CV = coefficient of variation; FSH = follicle-stimulating hormone; FT = free testosterone; HPG = hypothalamic-pituitarygonadal; LH = luteinizing hormone; SHBG = sex hormone-binding globulin; T2DM = type 2 diabetes mellitus; T 4 = thyroxine; TSH = thyroid-stimulating hormone; WC = waist circumference
Indian Journal of Clinical Biochemistry
Indian Journal of Surgery, 2021
Sir, Adrenal haemorrhages are rare after blunt abdominal trauma with a prevalence of 2–4% [1–3]. ... more Sir, Adrenal haemorrhages are rare after blunt abdominal trauma with a prevalence of 2–4% [1–3]. There is limited data regarding the prevalence and characteristics of adrenal haemorrhages in blunt trauma abdomen patients from India, especially South India. A total of 1872 computed tomography (CT) scans of the abdomen and kidney urinary bladder (KUB) performed at Narayana Medical College and Hospital, Nellore, India, between January 2018 and February 2019 were reviewed retrospectively by two independent reviewers (VS and SK). During the same period, 148 patients had been referred to the department of radiology with a history of blunt trauma abdomen. Adrenal haemorrhages were observed in seven patients accounting for 0.37% (7/1872) of the total cohort and 4.7% (7/148) of the blunt abdominal trauma cohort. All patients were males and were younger than 40 years. The causes for trauma were motor vehicle accidents in six and accidental falls from height in one. Of the six patients with motor vehicle accidents, five were riding a two-wheeler during the accident whereas the other one was travelling in a three-wheeler which toppled. Six patients had a haemorrhage on the right side whereas one had on the left side. All of them had associated visceral organ injuries with liver (n = 5) and spleen (n = 5) being the most commonly involved organs. The median (range) revised trauma score and injury severity scores were 11 (9–12) and 12 (6–24) respectively. Five patients were managed conservatively whereas one underwent splenectomy due to grade V laceration leading to hypotension. None of the evaluated patients (n = 4) had hypocortisolism. One patient expired due to hepatic laceration leading to hypovolemic shock. The size of adrenal haemorrhages varied from 1.4 × 1.55 to 4.1 × 2.2 cm (Table 1). The baseline attenuation was 65.7 ± 10.17 with a minimal enhancement (attenuation change from baseline) in the arterial (1.42 ± 6.26 HU) and venous (3.85 ± 5.92 HU) phases. This was in contrast to lower baseline attenuation (17.16 ± 16.3 HU) but higher enhancement in arterial (35.5 ± 14.9 HU) and portal venous (44.6 ± 20 HU) phases of adrenal adenomas (n = 7), evaluated during the same study period. Imaging characteristics of a few representative patients are depicted in Fig. 1. The prevalence of adrenal haemorrhages in this cohort with major blunt trauma abdomen was similar to those reported from previous larger studies (2–4%) [1–3]. More frequent occurrence of adrenal haemorrhage on the right side, as also reported in several previous studies, is attributed to a short right adrenal vein communicating directly with inferior vena cava and vulnerable location of the right adrenal gland [1–4]. As also noted in our study, adrenal haemorrhage is commonly associated with other injuries (98%) or visceral injuries (78–93%) in blunt trauma abdomen patients which suggests adrenal haemorrhages as an indicator of associated visceral injuries [3, 4]. Co-occurrence of visceral injuries is probably due to the high energy transfer, promoted by motor vehicle accidents and falls from greater heights, that simultaneously causes multiple organ injuries [5]. Notably, unlike nontraumatic adrenal haemorrhages that are frequently bilateral and are associated with adrenal insufficiency, hypocortisolism is rare in traumatic haemorrhages, as also noted in our study. The study was limited by its retrospective nature, small sample size and inclusion of only those with major blunt trauma abdomen referred for CT as the denominator to calculate the prevalence. To conclude, adrenal haemorrhages are not uncommon in patients with major blunt abdominal trauma and are mostly associated with the coexistence of other visceral injuries. * Vijaya Sarathi drvijayasarathi@gmail.com
Cureus, Mar 29, 2023
Ectopic adrenocorticotropic hormone (ACTH) syndrome (EAS) is rare in children, and localizing the... more Ectopic adrenocorticotropic hormone (ACTH) syndrome (EAS) is rare in children, and localizing the source of EAS is often challenging. Here, we report EAS in an adolescent boy who presented with Cushingoid features and had endogenous ACTH-dependent hypercortisolism on hormonal evaluation. Abdominal ultrasound and CT revealed a hepatic lesion with characteristics suggestive of hemangioma, whereas the lesion was tracer non-avid on 68 Ga-DOTANOC positron emission tomography/CT. A regional sampling of ACTH was done to confirm the hepatic lesion as the source of EAS, and a definitive ACTH gradient was observed between the hepatic vein and the right internal jugular vein. Further, a preoperative biopsy of the lesion revealed a small round cell tumor with positive immunostaining for ACTH and synaptophysin, suggestive of a neuroendocrine tumor. The patient was managed with partial hepatectomy, resulting in hormonal and clinical remission of Cushing syndrome. In a systematic review of pediatric EAS due to primary hepatic tumors (n = 11), calcifying nested stromal epithelial cell tumors were the most common. EAS-associated hepatic tumors were larger (≥10 cm) except benign primary hepatic neuroendocrine tumors (PHNET). The latter were misdiagnosed as hemangioma in two cases by anatomical imaging but correctly diagnosed by somatostatin receptor scintigraphy. Hepatic tumors causing EAS in children required extensive resection, except benign PHNET. Nevertheless, all benign tumors with an uncomplicated perioperative course demonstrated disease-free survival over a median follow-up period of two years.
Indian Journal of Endocrinology and Metabolism, 2022
Clinical Endocrinology, Feb 16, 2022
Aim of this study is to report on basal clinical phenotype and follow up after diagnosis, of pati... more Aim of this study is to report on basal clinical phenotype and follow up after diagnosis, of patients with 17β β-hydroxysteroid-dehydrogenase type 3 (17β-HSD3) deficiency in Italy. Setting: Pediatric Endocrine Departments, University Hospitals. Patients: The cases of 5 Italian subjects affected by 17β-HSD3 deficiency are presented in this study. Interventions: Laboratory and genetic assessment. Gonadectomy and female sex assignment (4 patients) or GnRH analog therapy to regress puberty and gender identity disorder (1 patient). Results: Presentation lasted from pregnancy (pre-natal diagnosis of a 46,XY fetus with female external genitalia) to infancy (inguinal hernia containing testes/clitoromegaly) and adolescence (virilisation). All subjects but one (subject 1, Central-Northern Italy) were from small areas of Southern Italy. Endocrine data (baseline and/or stimulated testosterone/Δ4-androstenedione ratio) were informative. Two girls were homozygous for 17β-HSD3 gene mutations (G289S/G289S; R80W/R80W), while the others were compound heterozygous (IVS325+4 A>T/A203V; L212Q/M235V; R80W/A235E). Four patients were confirmed as females and were well-adjusted with assigned sex; gender identity disorder improved during treatment with GnRH analog in the last subject. Conclusions: 17βHSD3 deficiency may present from pregnancy to puberty for different clinical issues. Albeit testosterone/Δ4-androstenedione ratio represents the most accurate endocrine marker to diagnose the disorder, hCGstimulation is mandatory in pre-puberty. Molecular analysis of 17β-HSD3 gene should be performed to confirm the diagnosis. Temporary GnRH analog treatment may regress gender identity disorder and provide time to confirm or change the birth sex assignment. Female individuals seems to be compliant with their sex, providing that virilisation does not occur. In Italy, the disorder seems to be more prevalent in the Southern regions and shows genetic heterogeneity.
World journal of nuclear medicine, Aug 16, 2022
à Dodamani MH and Jaiswal SK contributed equally and retain the first authorship.
Indian Journal of Endocrinology and Metabolism, 2022
Medicine
Ischemic heart disease (IHD) is a pressing public health concern with high prevalence, mortality,... more Ischemic heart disease (IHD) is a pressing public health concern with high prevalence, mortality, and morbidity. Although the value of neutrophil-lymphocyte ratio (NLR) and platelet-lymphocyte ratio (PLR) as markers of the acute coronary syndrome are well recognized, there is a paucity of data deciphering their role in screening for stable ischemic heart disease (SIHD) in the presence of type 2 diabetes mellitus (T2DM). The present study investigates the value of NLR and PLR as markers of SIHD in T2DM. We evaluated the predictive value of NLR and PLR for SIHD by comparing T2DM patients having angiographically proven SIHD to T2DM patients without IHD at different cutoff levels by evaluating the area under the curve (AUC) obtained from receiver-operating-characteristic analysis. Raised NLR and PLR were significantly associated with SIHD (P < .001 for each). On performing AUC-receiver-operating-characteristic analysis, NLR of > 2.39 and PLR of > 68.80 were associated with the ...
Journal of Postgraduate Medicine, 2010
The usefulness of the acute octreotide test in the selection of patients with acromegaly for chro... more The usefulness of the acute octreotide test in the selection of patients with acromegaly for chronic somatostatin depot analogues treatment is controversial. To determine the efficacy of acute octreotide suppression test (OST) in predicting response to long-term somatostatin analogue (Octreotide-long-acting repeatable, OCT-LAR) therapy in patients with acromegaly. Prospective study (2006-2007) conducted at a tertiary healthcare centre in western India. Sixteen drug-naive patients with active acromegaly (postoperative+/-post radiotherapy) underwent 50 microg subcutaneous OST. Ten patients were treated with OCT-LAR for one year. Remission was defined as a nadir growth hormone (GH) < 1 ng/ml during 75 g oral glucose tolerance test (OGTT) (0, 10, 30, 60, 120, 180 min) and normal age, sex-matched insulin-like growth factor 1 (IGF1) levels. SPSS Software Version 11 was used for data analysis. Using GH cutoff. Nadir GH < 1 ng/ml following an OST is a useful predictive marker of achieving disease remission with long-term OCT-LAR therapy.
Clinical Endocrinology
ObjectiveP450 side‐chain cleavage deficiency (SCCD) patients present with primary adrenal insuffi... more ObjectiveP450 side‐chain cleavage deficiency (SCCD) patients present with primary adrenal insufficiency (PAI) with or without undervirilized external genitalia. The distinction between classic and nonclassic steroidogenic acute regulatory protein deficiency has been described, whereas in SCCD is unclear. The data on gonadal function and its correlation with SCCD genotype has not been studied.We describe our experience and perform a systematic review of genetically proven SCCD patients to determine the distinct phenotypic and genotypic characteristics of 46,XY SCCD patients with typical male external genitalia (SCCD‐TMG) and atypical (SCCD‐AG) external genitalia.Design, Patients and MeasurementsRetrospective review of three genetically proven SCCD patients from our centre and per‐patient data analysis from a systematic review of 52 probands was performed. SCCD‐TMG (n = 19) was defined as external genitalia of Sinnecker score 1 with 46,XY karyotype; the rest (Sinnecker 2–5) were clas...
Purpose: To describe phenotype-genotype data of Asian-Indian Kallmann syndrome (KS) from our cent... more Purpose: To describe phenotype-genotype data of Asian-Indian Kallmann syndrome (KS) from our center and perform a systematic review of genetic studies using next-generation sequencing (NGS) in KS. Methods: Seventy-eight KS probands from our center and 398 probands from published studies were included. Per-patient genetic variants were analyzed as per ACMG-guidelines. Molecular diagnosis was de ned as the presence of pathogenic or likely pathogenic variant(s) in known CHH gene/s following zygosity status as per the known mode of genetic inheritance. Result: Molecular diagnosis at our center was observed in 20.5% probands (ANOS1:10.2%, FGFR1: 6.4%, PROKR2: 2.5%, and PROK2, SOX10, FGF8, GNRHR: 1.3% each). Molecular diagnosis was reached more often in patients with severe than partial reproductive phenotype (28.3% vs. 4%, p=0.0013). Our center adds eight novel variants. In a per-patient systematic review (including our cohort), the molecular diagnosis was reached in 30.8%, ranging from 16.6-72.2% at different centers. The affected genes were FGFR1 (9.6%), ANOS1 (7.7%), PROKR2 (6.5%), CHD7 (4.6%), oligogenic (1.9%), FGF8 (1%), SOX10 (1%), and others (PROK2, SEMA3A, IL17RD, GNRHR:<1% each). FGFR1 was the most commonly affected gene in most cohorts except Asia and Brazil, where PROKR2 (in China and Japan) and ANOS1 (in India and Brazil) were the commonest. Conclusion(s): The global molecular diagnosis rate was 30.8% in KS cohorts whereas that in our cohort was 20.5% with a higher rate (28.3%) in those with severe reproductive phenotype. The most commonly affected gene in KS patients was FGFR1 globally, PROKR2 in East Asia, and ANOS1 in India and Brazil.
Indian Journal of Pediatrics, Oct 16, 2019
with great interest the article entitled 'Upper and lower body segment ratios from birth to 18 ye... more with great interest the article entitled 'Upper and lower body segment ratios from birth to 18 years in children from western Maharashtra' published in IJP by Kondpalle et al. [1]. Measurement of body proportion provides a useful clinical clue in the evaluation of children and adolescents with disorders of growth and puberty. Large normative data for upper to lower body segment ratio in Indian children are lacking and I thank the authors for this great work which will help in better evaluation of Indian children with growth abnormalities. The differences in US/LS ratio observed in the present study when compared with conventional figures make the study more interesting. Using the conventional figures (1.7 at birth to 1.3 at 3 y of age), a large proportion of the Indian (western) normal infants and young children may be diagnosed to have short trunk whereas more than half of the normal adolescent girls (≥ 11 y) and boys (≥ 12 y) may be labeled eunuchoid using the conventional cut off of 0.9 [2]. The study clearly demonstrates the need for similar studies from other regions of India. Utility of few previous studies was limited due to lack of standard deviation data to infer 'what is abnormal'. Though authors note this point, the standard deviation data is not provided for the present study. Providing standard deviation and/ or 95% confidence intervals would help to improve the evaluation of Indian (western) children and adolescents with growth disorders.
Thyroid Research and Practice, 2018
Background: There are no published data on trimester-specific reference intervals for thyroid fun... more Background: There are no published data on trimester-specific reference intervals for thyroid function tests (TFTs) in south Indian pregnant women. Hence, this study was conducted to establish trimester-specific reference intervals for TFTs in south Indian pregnant women. Materials and Methods: This is a cross-sectional study conducted at a tertiary health-care center at Coastal region from South India. A total of 235 healthy women of age >18 years with uncomplicated singleton, intrauterine pregnancy who were consuming iodized salt were recruited for the study. Family history of thyroid illness, history of abortion, goiter, antithyroid peroxidase positivity, overt hypothyroidism, and overt hyperthyroidism were present in 11 (4.7%), 27 (11.5%), 50 (21.3%), 15 (6.38%), 1 (0.42%), and 3 (1.28%) had, respectively, and a total of 73 participants having one of these features were excluded from the study. A total of 162 (I trimester: 47, II trimester: 50, and III trimester: 65) women were included in the analysis to derive trimester-specific reference ranges. Results: The reference ranges for the first, second, and third trimester were 0.08–2.24, 0.42–2.84, and 0.40–3.14 μIU/ml for thyroid-stimulating hormone, 0.68–1.44, 0.59–1.21, and 0.53–1.15 ng/dl for free thyroxine 4 (FT4) and 2.08–3.48, 1.81–3.81, and 1.86–3.38 pg/ml for FT3. Conclusion: Our study reports trimester-specific reference ranges for TFTs in south Indian women from a coastal region.
Indian Journal of Endocrinology and Metabolism, 2017
Review Article IntRoductIon The "rule of 10" used to describe pheochromocytoma/ paragangliomas (P... more Review Article IntRoductIon The "rule of 10" used to describe pheochromocytoma/ paragangliomas (PCC/PGLs) is a good example of axioms that medical students often learn to remember the key characteristics of a disorder. The rule of 10 used to describe PCC/PGLs is as follows: 10% are extra-adrenal, and of those, 10% are extra-abdominal; 10% are malignant; 10% are found in children; 10% of patients are normotensive; and 10% are hereditary. [1] However, at the beginning of the 21 st century, 10% rule was dashed by a study from Neumann et al., which reported germline mutation in 24% of apparently sporadic PCC/PGL patients. [2] This study heralded the death of an axiom, as it was aptly called. [1] Data on characteristics, especially of germline mutations in patients with pediatric PCC/PGL were greatly limited till 2013. [3-5] Thereafter, few studies have reported genotype and phenotype characteristics of PCC/PGL in pediatric cohorts. From these studies, we appreciated that characteristics of pediatric PCC/PGL follow a pattern. [3-5] Hence, we have reviewed the available literature to verify the same. Methods We searched PubMed, Scopus, ProQuest, and Google Scholar for studies describing the genotype and/or phenotype characteristics of pediatric PCC/PGL cohorts published after 2000 in English language. A total of twelve studies describing the genotype and/or phenotype characteristics of pediatric PCC/PGL cohorts published after 2000 were identified; [3-14] seven cohorts with sample size <35 were excluded to avoid the confounding factors due to smaller sample size and the potential risk of getting replicated in recent larger cohorts. [8-14] The five studies had a sample size of more than 35 and included pediatric PCC/PGL cohorts from the
Journal of Clinical and Diagnostic Research, 2016
Indian Journal of Pathology & Microbiology, 2015
We discuss a case of primary hyperparathyroidism caused by a giant cystic parathyroid adenoma pre... more We discuss a case of primary hyperparathyroidism caused by a giant cystic parathyroid adenoma presenting with neck swelling and hypercalcemic crisis. Fine-needle aspiration cytology of presumed thyroid swelling from one of the two sites aspirated yielded clear fluid but was not attributed to parathyroid pathology. Elevated serum calcium and intact parathormone (iPTH) levels suggested preoperative parathyroid pathology. Ultrasound neck and sestamibi scan for parathyroid localization were not conclusive. Due to resistant hypercalcemia, the patient underwent emergency bilateral neck exploration and excision of the identified left superior parathyroid cyst along with total thyroidectomy. Monitoring of intra-operative iPTH helped complete removal of hyperfunctioning parathyroid tissue. Histopathological examination confirmed the parathyroid cyst. Cystic parathyroid adenoma should be considered in the differential diagnosis of cystic neck lesions.
Diabetes and Metabolic Syndrome: Clinical Research and Reviews, Sep 1, 2020
Objective: To determine the prevalence of hypogonadism in Asian Indian patients with type 2 diabe... more Objective: To determine the prevalence of hypogonadism in Asian Indian patients with type 2 diabetes mellitus (T2DM) and to correlate it with components of the metabolic syndrome and microvascular complications of T2DM. Methods: One hundred consecutive male patients with T2DM between 25 and 50 years of age and 50 age-matched healthy adults without diabetes underwent assessment. Calculated free testosterone was derived by using serum total testosterone and sex hormone-binding globulin. Those patients with 2 calculated free testosterone values less than 64.8 pg/mL were diagnosed as having hypogonadism. Results: Of the 100 patients with T2DM, 15 (15%) were found to have hypogonadism-7 of 29 (24%) between 31 and 40 years of age and 8 of 67 (12%) between 41 and 50 years old. None of the 4 patients between 25 and 30 years old had hypogonadism. Eleven patients (73%) had hypogonadotropic hypogonadism, and 4 (27%) had hypergonadotropic hypogonadism. Among the control subjects, the prevalence of hypogonadism was 10%. In comparison with Western data, we found a higher prevalence of hypogonadism in patients with T2DM, especially in those in the 4th decade of life. The prevalence of hypogonadism was higher in obese patients, although it did not reach statistical significance. No statistically significant correlation was observed between hypogonadism and age, duration of diabetes, glycemic control, androgen deficiency symptoms, or microvascular complications. Conclusion: The prevalence of hypogonadism was higher in the patients with diabetes than in the control subjects, although the difference did not reach statistical significance. There was no correlation of hypogonadism with components of the metabolic syndrome or microvascular complications of diabetes mellitus. (Endocr Pract. 2009;15:513-520) Abbreviations: A1C = hemoglobin A1c; BMI = body mass index; cFT = calculated free testosterone; CV = coefficient of variation; FSH = follicle-stimulating hormone; FT = free testosterone; HPG = hypothalamic-pituitarygonadal; LH = luteinizing hormone; SHBG = sex hormone-binding globulin; T2DM = type 2 diabetes mellitus; T 4 = thyroxine; TSH = thyroid-stimulating hormone; WC = waist circumference
Indian Journal of Clinical Biochemistry
Indian Journal of Surgery, 2021
Sir, Adrenal haemorrhages are rare after blunt abdominal trauma with a prevalence of 2–4% [1–3]. ... more Sir, Adrenal haemorrhages are rare after blunt abdominal trauma with a prevalence of 2–4% [1–3]. There is limited data regarding the prevalence and characteristics of adrenal haemorrhages in blunt trauma abdomen patients from India, especially South India. A total of 1872 computed tomography (CT) scans of the abdomen and kidney urinary bladder (KUB) performed at Narayana Medical College and Hospital, Nellore, India, between January 2018 and February 2019 were reviewed retrospectively by two independent reviewers (VS and SK). During the same period, 148 patients had been referred to the department of radiology with a history of blunt trauma abdomen. Adrenal haemorrhages were observed in seven patients accounting for 0.37% (7/1872) of the total cohort and 4.7% (7/148) of the blunt abdominal trauma cohort. All patients were males and were younger than 40 years. The causes for trauma were motor vehicle accidents in six and accidental falls from height in one. Of the six patients with motor vehicle accidents, five were riding a two-wheeler during the accident whereas the other one was travelling in a three-wheeler which toppled. Six patients had a haemorrhage on the right side whereas one had on the left side. All of them had associated visceral organ injuries with liver (n = 5) and spleen (n = 5) being the most commonly involved organs. The median (range) revised trauma score and injury severity scores were 11 (9–12) and 12 (6–24) respectively. Five patients were managed conservatively whereas one underwent splenectomy due to grade V laceration leading to hypotension. None of the evaluated patients (n = 4) had hypocortisolism. One patient expired due to hepatic laceration leading to hypovolemic shock. The size of adrenal haemorrhages varied from 1.4 × 1.55 to 4.1 × 2.2 cm (Table 1). The baseline attenuation was 65.7 ± 10.17 with a minimal enhancement (attenuation change from baseline) in the arterial (1.42 ± 6.26 HU) and venous (3.85 ± 5.92 HU) phases. This was in contrast to lower baseline attenuation (17.16 ± 16.3 HU) but higher enhancement in arterial (35.5 ± 14.9 HU) and portal venous (44.6 ± 20 HU) phases of adrenal adenomas (n = 7), evaluated during the same study period. Imaging characteristics of a few representative patients are depicted in Fig. 1. The prevalence of adrenal haemorrhages in this cohort with major blunt trauma abdomen was similar to those reported from previous larger studies (2–4%) [1–3]. More frequent occurrence of adrenal haemorrhage on the right side, as also reported in several previous studies, is attributed to a short right adrenal vein communicating directly with inferior vena cava and vulnerable location of the right adrenal gland [1–4]. As also noted in our study, adrenal haemorrhage is commonly associated with other injuries (98%) or visceral injuries (78–93%) in blunt trauma abdomen patients which suggests adrenal haemorrhages as an indicator of associated visceral injuries [3, 4]. Co-occurrence of visceral injuries is probably due to the high energy transfer, promoted by motor vehicle accidents and falls from greater heights, that simultaneously causes multiple organ injuries [5]. Notably, unlike nontraumatic adrenal haemorrhages that are frequently bilateral and are associated with adrenal insufficiency, hypocortisolism is rare in traumatic haemorrhages, as also noted in our study. The study was limited by its retrospective nature, small sample size and inclusion of only those with major blunt trauma abdomen referred for CT as the denominator to calculate the prevalence. To conclude, adrenal haemorrhages are not uncommon in patients with major blunt abdominal trauma and are mostly associated with the coexistence of other visceral injuries. * Vijaya Sarathi drvijayasarathi@gmail.com
Cureus, Mar 29, 2023
Ectopic adrenocorticotropic hormone (ACTH) syndrome (EAS) is rare in children, and localizing the... more Ectopic adrenocorticotropic hormone (ACTH) syndrome (EAS) is rare in children, and localizing the source of EAS is often challenging. Here, we report EAS in an adolescent boy who presented with Cushingoid features and had endogenous ACTH-dependent hypercortisolism on hormonal evaluation. Abdominal ultrasound and CT revealed a hepatic lesion with characteristics suggestive of hemangioma, whereas the lesion was tracer non-avid on 68 Ga-DOTANOC positron emission tomography/CT. A regional sampling of ACTH was done to confirm the hepatic lesion as the source of EAS, and a definitive ACTH gradient was observed between the hepatic vein and the right internal jugular vein. Further, a preoperative biopsy of the lesion revealed a small round cell tumor with positive immunostaining for ACTH and synaptophysin, suggestive of a neuroendocrine tumor. The patient was managed with partial hepatectomy, resulting in hormonal and clinical remission of Cushing syndrome. In a systematic review of pediatric EAS due to primary hepatic tumors (n = 11), calcifying nested stromal epithelial cell tumors were the most common. EAS-associated hepatic tumors were larger (≥10 cm) except benign primary hepatic neuroendocrine tumors (PHNET). The latter were misdiagnosed as hemangioma in two cases by anatomical imaging but correctly diagnosed by somatostatin receptor scintigraphy. Hepatic tumors causing EAS in children required extensive resection, except benign PHNET. Nevertheless, all benign tumors with an uncomplicated perioperative course demonstrated disease-free survival over a median follow-up period of two years.
Indian Journal of Endocrinology and Metabolism, 2022
Clinical Endocrinology, Feb 16, 2022
Aim of this study is to report on basal clinical phenotype and follow up after diagnosis, of pati... more Aim of this study is to report on basal clinical phenotype and follow up after diagnosis, of patients with 17β β-hydroxysteroid-dehydrogenase type 3 (17β-HSD3) deficiency in Italy. Setting: Pediatric Endocrine Departments, University Hospitals. Patients: The cases of 5 Italian subjects affected by 17β-HSD3 deficiency are presented in this study. Interventions: Laboratory and genetic assessment. Gonadectomy and female sex assignment (4 patients) or GnRH analog therapy to regress puberty and gender identity disorder (1 patient). Results: Presentation lasted from pregnancy (pre-natal diagnosis of a 46,XY fetus with female external genitalia) to infancy (inguinal hernia containing testes/clitoromegaly) and adolescence (virilisation). All subjects but one (subject 1, Central-Northern Italy) were from small areas of Southern Italy. Endocrine data (baseline and/or stimulated testosterone/Δ4-androstenedione ratio) were informative. Two girls were homozygous for 17β-HSD3 gene mutations (G289S/G289S; R80W/R80W), while the others were compound heterozygous (IVS325+4 A>T/A203V; L212Q/M235V; R80W/A235E). Four patients were confirmed as females and were well-adjusted with assigned sex; gender identity disorder improved during treatment with GnRH analog in the last subject. Conclusions: 17βHSD3 deficiency may present from pregnancy to puberty for different clinical issues. Albeit testosterone/Δ4-androstenedione ratio represents the most accurate endocrine marker to diagnose the disorder, hCGstimulation is mandatory in pre-puberty. Molecular analysis of 17β-HSD3 gene should be performed to confirm the diagnosis. Temporary GnRH analog treatment may regress gender identity disorder and provide time to confirm or change the birth sex assignment. Female individuals seems to be compliant with their sex, providing that virilisation does not occur. In Italy, the disorder seems to be more prevalent in the Southern regions and shows genetic heterogeneity.
World journal of nuclear medicine, Aug 16, 2022
à Dodamani MH and Jaiswal SK contributed equally and retain the first authorship.
Indian Journal of Endocrinology and Metabolism, 2022
Medicine
Ischemic heart disease (IHD) is a pressing public health concern with high prevalence, mortality,... more Ischemic heart disease (IHD) is a pressing public health concern with high prevalence, mortality, and morbidity. Although the value of neutrophil-lymphocyte ratio (NLR) and platelet-lymphocyte ratio (PLR) as markers of the acute coronary syndrome are well recognized, there is a paucity of data deciphering their role in screening for stable ischemic heart disease (SIHD) in the presence of type 2 diabetes mellitus (T2DM). The present study investigates the value of NLR and PLR as markers of SIHD in T2DM. We evaluated the predictive value of NLR and PLR for SIHD by comparing T2DM patients having angiographically proven SIHD to T2DM patients without IHD at different cutoff levels by evaluating the area under the curve (AUC) obtained from receiver-operating-characteristic analysis. Raised NLR and PLR were significantly associated with SIHD (P < .001 for each). On performing AUC-receiver-operating-characteristic analysis, NLR of > 2.39 and PLR of > 68.80 were associated with the ...
Journal of Postgraduate Medicine, 2010
The usefulness of the acute octreotide test in the selection of patients with acromegaly for chro... more The usefulness of the acute octreotide test in the selection of patients with acromegaly for chronic somatostatin depot analogues treatment is controversial. To determine the efficacy of acute octreotide suppression test (OST) in predicting response to long-term somatostatin analogue (Octreotide-long-acting repeatable, OCT-LAR) therapy in patients with acromegaly. Prospective study (2006-2007) conducted at a tertiary healthcare centre in western India. Sixteen drug-naive patients with active acromegaly (postoperative+/-post radiotherapy) underwent 50 microg subcutaneous OST. Ten patients were treated with OCT-LAR for one year. Remission was defined as a nadir growth hormone (GH) < 1 ng/ml during 75 g oral glucose tolerance test (OGTT) (0, 10, 30, 60, 120, 180 min) and normal age, sex-matched insulin-like growth factor 1 (IGF1) levels. SPSS Software Version 11 was used for data analysis. Using GH cutoff. Nadir GH < 1 ng/ml following an OST is a useful predictive marker of achieving disease remission with long-term OCT-LAR therapy.
Clinical Endocrinology
ObjectiveP450 side‐chain cleavage deficiency (SCCD) patients present with primary adrenal insuffi... more ObjectiveP450 side‐chain cleavage deficiency (SCCD) patients present with primary adrenal insufficiency (PAI) with or without undervirilized external genitalia. The distinction between classic and nonclassic steroidogenic acute regulatory protein deficiency has been described, whereas in SCCD is unclear. The data on gonadal function and its correlation with SCCD genotype has not been studied.We describe our experience and perform a systematic review of genetically proven SCCD patients to determine the distinct phenotypic and genotypic characteristics of 46,XY SCCD patients with typical male external genitalia (SCCD‐TMG) and atypical (SCCD‐AG) external genitalia.Design, Patients and MeasurementsRetrospective review of three genetically proven SCCD patients from our centre and per‐patient data analysis from a systematic review of 52 probands was performed. SCCD‐TMG (n = 19) was defined as external genitalia of Sinnecker score 1 with 46,XY karyotype; the rest (Sinnecker 2–5) were clas...
Purpose: To describe phenotype-genotype data of Asian-Indian Kallmann syndrome (KS) from our cent... more Purpose: To describe phenotype-genotype data of Asian-Indian Kallmann syndrome (KS) from our center and perform a systematic review of genetic studies using next-generation sequencing (NGS) in KS. Methods: Seventy-eight KS probands from our center and 398 probands from published studies were included. Per-patient genetic variants were analyzed as per ACMG-guidelines. Molecular diagnosis was de ned as the presence of pathogenic or likely pathogenic variant(s) in known CHH gene/s following zygosity status as per the known mode of genetic inheritance. Result: Molecular diagnosis at our center was observed in 20.5% probands (ANOS1:10.2%, FGFR1: 6.4%, PROKR2: 2.5%, and PROK2, SOX10, FGF8, GNRHR: 1.3% each). Molecular diagnosis was reached more often in patients with severe than partial reproductive phenotype (28.3% vs. 4%, p=0.0013). Our center adds eight novel variants. In a per-patient systematic review (including our cohort), the molecular diagnosis was reached in 30.8%, ranging from 16.6-72.2% at different centers. The affected genes were FGFR1 (9.6%), ANOS1 (7.7%), PROKR2 (6.5%), CHD7 (4.6%), oligogenic (1.9%), FGF8 (1%), SOX10 (1%), and others (PROK2, SEMA3A, IL17RD, GNRHR:<1% each). FGFR1 was the most commonly affected gene in most cohorts except Asia and Brazil, where PROKR2 (in China and Japan) and ANOS1 (in India and Brazil) were the commonest. Conclusion(s): The global molecular diagnosis rate was 30.8% in KS cohorts whereas that in our cohort was 20.5% with a higher rate (28.3%) in those with severe reproductive phenotype. The most commonly affected gene in KS patients was FGFR1 globally, PROKR2 in East Asia, and ANOS1 in India and Brazil.