bluuebunny/crossref_metadata_2025 huggingface dataset:
Abstract 185
Authors: Damodharan Suresh
Published: February 2023

Background: Cardiorenal complications (CRCs) associated with T2D are a major cause of morbidity and mortality. There is a paucity of data regarding the burden of undiagnosed silent CRCs among individuals with T2D in India.

Aim: To present country-specific analyses from the ‘Take CaRe of Me’ program, a subset of the iCaReMe global, cloud-based registry (NCT03549754), evaluating the prevalence and clinical manifestations of CRCs among individuals with T2D from the primary care setting in India.

Methods: Cross-sectional data of adults with T2D and no history of CRCs at index visits were collected from December 2020 through December 2021. Here we present descriptive analyses of baseline cardiorenal characteristics. Presence of cardiovascular (CV) risk was analyzed as per ESC 2019 guidelines and renal risk as per KDIGO guidelines. Continuous variables were summarized as mean ± SD and categorical variables as frequency (%).

Results: A total of 3284 individuals (mean ± SD age: 54.8 ± 11.92 years, BMI: 26.7 ± 4.7 kg/m2; 46.6% females) were enrolled. Mean HbA1c was 8.1 ± 1.97% (62.7% with HbA1c ≥7%) with a mean T2D duration of 9.1 ± 7.21 years; 61.5% of individuals had a T2D duration ≥5 years. Hypertension was reported in one-third (34.3%). Overall, 1091 (33.2%) individuals had moderate-to-severe renal risk (per urine albumin creatinine ratio). Of the 1280 (39.0%) individuals with high and very high CV risk, 251 (19.6%) had echocardiographic data, of whom, 70 (27.9%) had abnormal echocardiogram (12.0% left ventricular hypertrophy, 8.4% left atrial enlargement, 4.4% valvular disease, 2.4% diastolic dysfunction, and 0.8% pulmonary hypertension). Clinical heart failure was detected in 18 (0.5%) individuals overall (Table).

Conclusion: The results show silent CRCs to be prevalent in more than one-third of individuals with T2D. Such a high burden of unrecognized CRCs highlights the unmet need for early diagnosis, risk factor management, and the use of cardioreno protective anti-hyperglycemic drugs for individuals with long-standing T2D in India.
Abstract 187
Authors: Unnikrishnan AG , Subhankar Chowdhury , Mercado Garcia Mariana , Jain RK , Mathew John , Muffazal Lakdawala , Rishma Pai , Hassan Suresh Swaroop , Rahman SK
Published: February 2023

Objective and Background: Nearly 60 million Indians are estimated to be living with obesity by 2030. However, obesity is not well recognized as a chronic disease and remains largely underdiagnosed and undertreated. The ACTION APAC study identified the perceptions and attitudes to effective obesity care in people with obesity (PwO) and health care professionals (HCPs) in 9 APAC countries. Here we report the findings from India.

Methods: This cross-sectional, non-interventional study collected data via an online survey between 14 April 2022 and 23 May 2022. PwO aged ≥18 years and HCPs with ≥2 years in practice, seen ≥100 patients (with ≥10 PwO) in the past month were eligible.

Results: In India, a total of 2000 PwO and 300 HCPs completed the survey. PwO were 37 years old, 49% were females and most were from obesity class I (BMI 25-29.9 kg/m2, 32%) and II ((BMI 30-34.9 kg/m2, 30%). Most HCPs were males (73%) and had a mean of 10 years of practice. The majority of PwO (72%) and HCPs (83%) agreed that obesity is a chronic disease and 56% of PwO assumed self-responsibility for weight loss (WL). Fewer than half of PwO (47%) reported discussing weight with their HCPs in the past 5 years while 68% of HCPs reported discussing weight with their PwO. HCPs cited PwO’s lack of motivation (55%) and interest (47%) in losing weight as the top reasons for not discussing weight. Half of PwO (51%) were motivated to lose weight and less than half (44%) reported knowing how to lose weight. Almost all HCPs (93%) said they were willing to support or empower their PwO to make healthy changes and were motivated (92%) to help PwO to lose weight. However, both preferred lifestyle changes over medication for WL. One-third of PwO believe they have overweight or normal weight as opposed to having obesity. They started struggling with weight at the mean age of 29 years and took a mean of 2 years in seeking help from HCPs. They made a mean of 4 WL attempts and 44% reported regaining weight after successfully losing it. PwO believed lack of exercise (62%) and unhealthy eating habits as top barriers for WL. Just over half of HCPs (56%) recorded obesity diagnosis for most or all the time and informed the same to 76% of their PwO.

Discussion and Conclusions: There were misperceptions about obesity among PwO and HCPs in India. Perceiving WL as PwO’s responsibility might have led to less interactions and delayed interventions. Preference to lifestyle changes, that alone may not be enough to achieve desired WL in the long run, indicates lack of disease understanding and knowledge about treatment options. These findings highlight a need for increased awareness about the disease.

Funding: Novo Nordisk A/S.
Abstract 19
Authors: Bhat Khurshid Ahmed
Published: February 2023

Background: Current guidelines recommend bone mineral density (BMD) measurement in asymptomatic men above age 70 years and vertebral fracture (VF) assessment above 80 years with T-score < -1.0 with risk factors. We studied the prevalence of osteoporosis and morphometricVF in asymptomatic males aged 60 years and above in North India.

Methods: Free-living community dwelling men (n = 241, age: mean ± standard deviation 68.0 ± 6.2 years) underwent a detailed history, physical examination, biochemical evaluation, and BMD measurements at 3 sites: lumbarspine, total hip (TH), and femoralneck (FN). Morphometric VF were assessed by instant vertebral assessment using Genantetal’s semi quantitative method.

Results: We observed osteoporosis, osteopenia, and normal BMD in 19%, 56%, and 25% of subjects, respectively. The decadewise prevalence of osteoporosis in the age groups 60–70 years, 71–80 years, and >80 years was 16.9%, 17%, and 50%, respectively. Meanserum 25-OHD levels were 17.2 ± 10.3 ng/mL. Vitamin-D deficiency (65 ng/mL) were present in 68.8% and 45.4%, respectively. VF were present in 29.6% subjects (grade I: 58%, grade II: 32.4%, and grade III: 8.8%). Age and iPTH had significant negative correlation with BMD at FN and TH. Serum25-OHD had no correlation with BMD at any site. The prevalence of VF was positively associated with age (p = 0.018) and negatively associated with BMD at FN (p = 0.002) and TH (p = 0.013).

Conclusion: Osteoporosis and VF are common in asymptomatic Indian males aged 60 years and above. Screening for osteoporosis and instant vertebral assessment may be recommended earlier than currently existing guidelines.
Abstract 196
Authors: Bauddh Nitesh Kumar , Biswas Krishna , Jindal Radhika , Chauda Rahul , Dahiya Nisha , Mohinder Mukul
Published: February 2023

Background: Avascular necrosis (AVN) is a well-recognized complication of exogenous glucocorticoid therapy. However, it is extremely rare in endogenous hypercortisolemia. We describe a case of young man with pituitary macroadenoma and ACTH dependent Cushing’s syndrome presenting with avascular necrosis of femoral head.

Case Presentation: A 24-year male presented to orthopedics department with non-traumatic progressive pain in left hip and difficulty in walking for last 2 years. This was associated with weight gain of 20 kg over 3 years along with easy bruisability, development of purple stria over abdomen, proximal muscle weakness and recurrent fungal skin infections. On evaluation in orthopedics, his X-ray and MRI of left hip confirmed AVN of femoral head for which surgery was planned. In presurgical evaluation he was found to have diabetes mellitus and hypertension for which he was referred to Endocrinology department. Patient denied receiving any oral or injectable exogenous steroids. Physical examination confirmed clinical stigmata of Cushing syndrome along with hyperpigmentation of skin, knuckles, and toes. His investigations revealed hypokalemia, hyperglycemia (HbA1C 9%), elevated morning serum cortisol (33 mcg/dl) along with high plasma ACTH of 288 pg/ml. His serum cortisol failed to suppress on low dose and high dose dexamethasone, thereby confirming endogenous ACTH dependent Cushing’s syndrome. MRI brain revealed large invasive pituitary macroadenoma for which he was subjected to trans nasal tumor resection. For medical management of Cushing’s, ketoconazole was started and titrated. On follow up patient has marked regression of his symptoms and is now planned for surgery of hip AVN.

Conclusion: This case illustrates that Cushing’s disease may rarely present with AVN to Orthopedics. Missing the signs and symptoms of hypercortisolemia while focusing on management of AVN may lead to delay in diagnosis and management of this life threatening disorder.
Abstract 21
Authors: Malik Shahnawaz Ahmad , Mohamad Sajad Ahmad Malik Muzaffar , Ashraf Mohammad
Published: February 2023

Introduction: Hypocalcemia is one of the common metabolic disorders in infants. This study is a part of study which was done to find the etiological, clinical and laboratory profile of hypocalcemia in infants.

Settings and Design: This was a cross sectional study conducted in infants aged between 3 days to 12 months who on evaluation were found to have hypocalcaemia on routine laboratory investigation.

Material and Methods: The study infants were subjected to history, physical examination and lab investigations including Vitamin D, Phosphorus and iPTH.

Results: Total number of cases of hypocalcemia due to vitamin D deficiency were 28 with male babies 16 (57%) and female babies 12 (43%), neonates 13 (46%) and post neonatal infants 15 (54%). Mean age was 84.43 days ±87.366. 25 (89%) cases presented with generalized tonic clonic seizures while 3 (11%) presented with lethargy and irritability. 22 (78%) patients had 25 hydroxy vitamin D levels below the detection limit of 10.5 nmol/l while remaining 6 (12%) patients had mean 25 hydroxy vitamin-D 14.5 ± 1.54 nmol/l, exclusively breast fed were 22 (78.6%), only formula fed 1 (3.6%) and both breast and formula fed 5 (17.9%), most cases 13 (46%) reported in winter, while 5 (18%) in spring, 4 (14%) in summer and 6 (21%) in autumn.

Conclusion: Evaluation of vitamin D status should be included in the work up of hypocalcemia especially in infancy.
Abstract 27
Authors: David Don , Philip Rajeev , Dev Amal , Sam Anil
Published: February 2023

Aims and Objectives: To identify cognitive dysfunction in any treated patient of panhypopituitarism, to identify the realm of cognitive dysfunction in panhypopituitarism, to correlate the cognitive dysfunction with the duration of illness

Methods: Study Design: Cross sectional observational study.

Study population: Patients admitted in the hospital with Panhypopituitarism during the period from January 2019 to June 2022. Sample Size 50 nos. Assessment of cognitive function was done using Addenbrokes cognitive examination.

Results: The results showed majority of the patients were in higher age group, females were majority in the study population. The diagnosis of the conditions presented by the patients showed majority of them having Pituitary adenoma (36%), followed by Empty Sella syndrome (12%). The duration of illness showed that majority (26%) of the patients had the disease for 2.5 years, followed by 1.5 years (24%) and 6 months (22%). The ACE score before showed low mean score of 81.1 and after the treatment mean score increased to 92.7. The delta score of mean difference between the ACE score before and after showed mean score of 11.6. The range of value of ACE before majority (72%) were between 81 to 86. The range of ACE score after the treatment showed major improvement in the ACE score, as majority were in 89 to 92 (52%) and 93 to 96 (48%). There was definitive cognitive improvement before and after treatment. The association between ACE score before treatment and illness duration showed that the ACE score gets lower when the duration of illness of increases. This inverse relationship was statistically significant. The association between ACE score after treatment and illness duration showed that the ACE score gets lower when the duration of illness of increases. This inverse relationship was statistically significant. The association of Attention/Memory against ACE mean scores before and after treatment was shown to have significantly higher score than rest of the variables. The mean ratio is 0.146 ± 0.06. Majority (53%) of the patients had scores between 0.07 to 0.11, followed by 0.12 to 0.19 (24%) and 12% each having 0.20 to 0.24 and 0.25 to .31 score. The correlation between ACE delta score and duration of illness showed that there was direct positive correlation these two factors. The correlation ‘r’ value is 0.109 or else it can be expressed as 10.9% of the changes seen in the ACE delta score can be attributed to the duration of illness.

Conclusion: This study has found a direct relationship between duration of illness and their deteriorating cognitive functions with significant improvement of cognitive function post treatment
Abstract 28
Authors: Nehara Hardeva Ram , Agrawal Rishi , Nehara Balveer , Sihag Dharmveer , Ghiya B. C.
Published: February 2023

Introduction: Xanthogranulomas are rare benign inflammatory lesion of skin with 5-10% systemic involvement. Sellarxanthogranulomas are extremely rare and can be associated with central diabetes insipidus (DI) and hypopituitarism [1]. We describe the case of a patient known to have central DI for last 11 years who developed skin lesions over face, and skin biopsy confirmed xanthogranuloma. MRI sella revealed a T1w and T2w hyperintense ovoid intrasellar lesion suggestive of sellarxanthogranuloma.

Case Presentation: Fifty-eight-year-old male patient known to have central diabetes insipidus for last 11 years. Plasma osmolarity 290 mOsm/kg, urine osmolarity 132 mOsm/kg, serum sodium 142 mE/l and serum potassium were 3.6 mE/l. Water deprivation test and imaging of sella were not done at that time and trial of oral desmopressin was given, and clinical and biochemical findings of DI improved, so diagnosis of central DI was kept. Patient presented to Dermatologist 2 months back with non-pruritic nodular skin lesion at malar area. Skin biopsy revealed fibrocollagenous tissue enclosing skin appendages covered by non-keratinised stratified squamous epithelium. The subepithelial tissue show variable sized xanthomatous cell admixed with lymphocytes, neutrophils and tuton giant cells suggestive of xanthogranuloma.

Patient was referred to Endocrinology Department for further evaluation. On laboratory evaluation hemogram, renal function, liver function, plasma glucose, electrolyte, calcium and angiotensin converting enzyme level were within normal limit. Hormonal evaluation revealed secondary hypothyroidism and possible growth hormone deficiency. Magnetic resonance imaging of sella revealed a well-defined 11 x 7 mm ovoid abnormal signal intensity lesion in pituitary gland appearing hyperintense on all imaging sequences causing minimal scalloping of sella, abutting right cavernous sinus, without obvious displacement of infundibulum or pituitary stalk (Figure 3a & 3b). In view of central DI, cutaneous xanthogranuloma and characteristic imaging finding diagnosis of sellarxanthogranuloma was kept. Perimetry revealed no obvious visual field defect. Patient was started oral levothyroxine 50 mcg and oral desmopressin 0.1 mg twice daily was continued. In view of no obvious compressive symptoms of sellar lesion, patient was advised yearly imaging of sella and transsphenoidal surgery whenever compressive symptoms arises.

Conclusion: Sellarxanthogranulomasshould be included in differential diagnosis of central DI. It is important to have a thorough examination of skin in patient of idiopathic central DI. Follow-up imaging of sella should also be done in patient with idiopathic central DI, despite of initial normal imaging of sella.
Abstract 3
Authors: Rastogi Prasoon , Mittal Madhukar , Ganakumar Vanishri , Garg M. K.
Published: February 2023

Background: Hypoparathyroidism is commonly idiopathic (besides post-surgical). Syndromic forms are mostly sporadic and it is the specific clinical features which help to identify the relevant diagnosis. Many times, these syndromic features are subtle and may be missed in a busy clinical practice. Also, the Ca-P deposition in the brain may lead to overlapping neurological features. Conversely hypoparathyroidism (17 – 60%) may not be part of the initial clinical presentation in these syndromes.

Case Report: We report a 26-year male who presented with seizure disorder and hypocalcemia, poorly controlled on anti-epileptics and oral calcium. Apart from seizures, which commenced at the age of 12 days, he had a history of recurrent chest infections and middle ear infections requiring multiple hospitalizations (8 – 10 till date). The patient had a reduced attention span, irritable behaviour, and poor scholastic performance. On examination, the patient had low set ears, carious teeth, high pitched nasal voice, positive Trousseau’s sign, mucopurulent discharge with perforation of the tympanic membrane in both ears. Investigations revealed hypocalcemia (6.3 mg/dl) with hyperphosphatemia (6.4 mg/dl) with inappropriately low iPTH (11.4 pg/ml) levels. Non-contrast CT head showed bilateral calcification at the basal ganglia and thalamus. 2 D echocardiography did not reveal any cardiac abnormality. CT thorax revealed absence of thymus. A deformity was noted at the distal phalynx of both thumbs, which on X-rays was identified as a small bony outgrowth from the distal phalynx of bilateral thumbs. It was actually a preaxialpolydactyly type II (Wassel’s classification). These two pointers led us to do specific genetic testing for DiGeorge syndrome and Next-generation sequencing (NGS) revealed microdeletion at chromosome 22q11.2.

Conclusion: The spectrum of DiGeorge syndrome is vast and varied. The characteristic defects including congenital heart disease and velo-facial manifestations may not be present in all. Looking out for subtle clinical pointers to syndromic features may help in directing specific genetic testing to clinch the diagnosis. In our case, the deformed shape of the thumbs led us to explore further leading us to unravelling the diagnosis.
Abstract 31
Authors: Singhania Pankaj , Mukhopadhyay Satinath , Chowdhury Subhankar , Singh Archana , Mandal Asif
Published: February 2023

Introduction: Ankle Brachial Index (ABI), a useful tool in diagnosingperipheral arterial disease (PAD), maygive falsely high values in sclerosed & calcified arteries. Toe Brachial Index (TBI) offers an alternative approach here, as digital arteries are unaffected by atherosclerotic changes and medial calcification.

Aim: To find out the sensitivity and specificity of ABI and TBI in diagnosing PAD in T2D compared to CT angiography (CTA) as a non-invasive gold standard.

Methods: 175 subjects with T2D, >50 years or >40 yearswith diabetes duration >10 years, were included. ABI&TBI were measured with an automated vascular Doppler XT 6 ports (Hadeco Inc. Japan). ABI < 0.9 & TBI < 0.6 was considered abnormal. USG Color Doppler& CTA of lower limb arterial system was performed. Arterial stenosis >50% on CTA was taken as evidence of PAD. Statistical analysis was performed by using IBM-SPSS statistics version 26 & GraphPad Prism Software version 9.0e.

Results: Theprevalence of PAD was 24%. The sensitivity& NPV of 38% and 80% respectively for ABI (<0.9) reflect an increased risk of failure to diagnose existing disease. The sensitivity of TBI was 90% indicating that TBI was quite likely to accurately detect PAD. The specificity of ABI and TBI were 90% and 85% respectively suggesting both were relatively unlikely to falsely detect PAD. ROC analysis showed ABI at 0.9950 has sensitivity 60% and specificity 70%, TBI at 0.6 has sensitivity 88% & specificity 86%.

Conclusion: The prevalence of PAD in T2D is much higher in our study population compared to previous studies. We showed, TBI has much greater sensitivity and comparable specificity to ABI in participants at risk of PAD making it a useful tool for vascular assessment in people with T2D. The existing TBI cutoff is satisfactory and the ABI cutoff needs to be re-evaluated.
Abstract 32
Authors: Gurugunti Aishhwarrya , Parikh Pankti , Appaiah Sonali , Bantwal Ganapathi , Ayyar Vageesh , George Belinda
Published: February 2023

Context: Acute adrenal insufficiency has a mortality rate of 0.5/100 patient-years and remains a significant cause of death in patients with adrenal insufficiency. One of the causebeing inadequate stress dosing by the patient. Adequate knowledge of the need for steroid replacement and stress dosing may help prevent such preventable cause of crisis.

Objective: To assess the insight and knowledge pertaining to the disease and stress dosing among patients with adrenal insufficiency

Methods: All the patients with adrenal insufficiency visiting endocrine OPD at SJMCH during their follow up visit were subjected to answering the questionnaire. All of them had been given steroid alert card, explained about the stress dosing (including administration of hydrocortisone injection) during previous visit.

Results: Out of the 88 patients asssed, 50 were males. Only 86.3% were aware that steroid was essential for survival. In-spite of prior explanation, only few were aware of the situations in which dose of steroid needs to be increased as in- moderate fever (66%), vomiting (41%), and loose stools (27.3%). 13.6% of patients failed to increase the dose of steroid during stress.

Conclusion: Despite adequate explanation regarding the disease and stress dosing, significant percentage of the patients were unable to recollect the same, necessitating the need to educate the patients at every follow up visit and reiterate the knowledge, to prevent the preventable cause of adrenal crisis.
Abstract 35
Authors: Thakur Preyander S. , Abraham Deepak , Hephzibah Julie , NitinKapoor  , Thomas Nihal , Paul Thomas V.
Published: February 2023

Background and Objectives: Primary hyperparathyroidism is a common endocrine disease which can lead to significant morbidity. Parathyroidectomy is an effective treatment option for this condition. Ectopic parathyroid adenoma is the most common cause of persistent hyperparathyroidism after surgery and these lesions are difficult to localize by imaging as well as during exploration due to its variable location. We hereby describe three unique cases of primary hyperparathyroidism with variable clinical presentation and ectopic parathyroid adenomas.

Methods and Results: This is a retrospective study and medical records of patients having primary hyperparathyroidism with ectopic parathyroid adenoma were retrieved from centralized hospital information processing system (CHIPS). Relevant bone mineral profile including serum calcium, phosphorus, albumin, 25 (OH)2 vitamin D, parathyroid hormone, alkaline phosphatase, creatinine and 24 hour urine calcium, phosphorus and creatinine and TmP/GFR was assessed. Radiological investigations including ultrasound neck, ultrasound abdomen, parathyroid scintigraphy and DXA scans were also assessed. 4-D CT neck was done in two cases where imaging findings on ultrasonography of neck and parathyroid scintigraphy were discordant. Carotid sheath, intrathyroidal and superior mediastinum were the sites where ectopic adenomas were localized. Two patients underwent multiple surgeries for persistent hyperparathyroidism as ectopic lesions were not localized initially.

Conclusion: Ectopic parathyroid adenomaspose unique challenges in management of primary hyperparathyroidism. Combination of imaging i.e. ultrasound and sestamibi scan should be used to localize these adenomas and in case of discordance or non-localization, 4D CT of the neck can be helpful. Surgery in such cases should be performed by a high-volume parathyroid surgeon, who has ample experience in parathyroid surgeries.
Abstract 36
Authors: Pradhan Amrita
Published: February 2023

Introduction: Here is a case of two sisters being evaluated as a case of rickets.

Case Report: A 7-year 2-month-old girl, born out of consanguineous marriage, presented with knock knees associated with progressive difficulty in walking since early childhood. On evaluation her height was 90 cms (- 4.8 SDS), weight was 11 kg (-2.31 SDS) and US:LS was 0.9. She had a long narrow face, depressed nasal bridge, high forehead, cornel clouding and cherry red spot, low set ears, short neck, pectuscarinatum, broadening of bilateral wrists, elbows and ankles, genu valgum (inter-malleolar distance 13 cm). Other system examination was normal. Her intelligence was judged to be normal. With clinical, biochemical and radiological features suggesting MPS, we proceeded for confirmation of our diagnosis with urinary GAGs which was elevated. Similar findings were noticed in younger sibling, 3 year 10 month old female child. Her height was 81.5 cm (-5.12 SDS), weight was (-3.5 SDS) and US:LS was 1.03. Her facial features were similar with intermalleolar distance of 5 cm.

Discussion: In a recent study in India MPS IV was the most common comprising 26%, followed by MPS I with 25%. MPS II, III, and VI accounted for 11, 12, and 21%, respectively. Our patient had all the typical skeletal features of MPS but there was no cardiac abnormality and normal intelligence. These clinical features suggest the patient may be a case of MPS-IV or MPS-II.

Conclusion: All patients presenting with features of rickets should undergo a through clinical examination along with skeletal survey with x ray with an intention to search for features of MPS. Early detection and proper management can prevent complication and lead to better outcomes.
Abstract 46
Authors: Gupta Pragya , Thomas Nihal , Paul Thomas , Kapoor Nitin , Jebasingh Felix , Prabhu Krishna , Asha H. S.
Published: February 2023

Background Hypophysitis is diagnosed in patients with symptoms of sellar mass lesion such as headache, visual field deficits, partial or panhypopituitarism, diabetes insipidus or hyperprolactinemia. Detailed clinical history, biochemical, immunological tests, and imaging characteristics help to determine the etiology, and guide management.

Objectives To characterize the clinical, hormonal and radiological profile of patients with hypophysitis presenting to a tertiary care pituitary unit, and to study the outcomes on follow up.

Methods Patients with hypophysitis were recruited by retrospective chart review from 2001 to 2022 (from the computerized hospital information system). Their clinical presentation, hormonal profile and imaging characters were recorded. Response to treatment, recovery of pituitary hormonal axes and radiological changes on follow-up were recorded.

Results Eighty-seven patients (56 females and 31 males) were included, of which 6 were related to pregnancy. The mean age at diagnosis was 37.9 + 11.6 years. Headache – 54 (62%), visual disturbance- 22 (25%) and polyuria -38 (44%) were the most common presenting symptoms. Systemic symptoms like fever, weight loss and asthenia were present in 31 (36%). Anterior hypopituitarism was diagnosed in 63 (72%) patients (secondary hypocortisolism - 59%, secondary hypothyroidism - 53%, and secondary hypogonadism - 61%). Hyperprolactinemia was noted in 23 patients, and 40 (46%) had diabetes insipidus (DI). Fifty-eight patients (67%) were diagnosed with primary hypophysitis (PH), 27 (31%) with secondary hypophysitis (SH) and 2 (2.3%) had drug induced hypophysitis (DH) due to PD-1 inhibitor therapy. The etiology of SH included tubercular hypophysitis in 16 patients, histiocytosis in 4, sarcoidosis in 4 and IGG4 disease in 1 patient. The median duration of follow-up were 2 years (0.2 -15 years) and 4 years (0.4-20 years) for patients with PH and SH respectively. Among PH - 38/58 (65%) received glucocorticoid therapy (high dose IV/ oral/ physiological replacement). Recovery of one or more anterior pituitary hormonal axes were noted in 26% of PH and 19% of SH. DI resolved in 8.3% and 16.7% of PH and SH respectively. Radiological improvement was noted in 89.5% of PH and 82.3% of SH. Of the 2 patients with drug induced hypophysitis, anterior pituitary axes did not recover, and neurohypophysis was not affected.

Conclusion Patients with primary hypophysitis who were treated with glucocorticoids were more likely to recover their anterior pituitary hormonal axes; and their recovery was better than those with secondary hypophysitis. Radiological improvement was noted in more than 80% of patients of PH and SH.
Abstract 47
Authors: Das Niladri , Datta Joydip , Sengupta Nilanjan , Goswami Soumik , Baidya Arjun
Published: February 2023

Perrault syndrome is a rare disorder, with autosomal recessive mode of inheritance, comprising of pure gonadal dysgenesis and sensorineural hearing loss in female and only sensorineural hearing loss in male. Less than 100 cases are reported in literature. Here, we report a case of Perrault syndrome in a 15-year female, born of consanguineous union, presented with deaf mutism, primary amenorrhoea and short stature. She has 2 younger male siblings who are also deaf and mute. On evaluation she had short stature with hypergonadotrophic hypogonadism with bilateral radioulnar joint dislocation with proxmal radial head dislocation, 46XX karyotype, with no cardiac abnormality. Other siblings are normal in height for age. Audiologic examination of 3 siblings revealed bilateral sensorineural hearing loss. Whole exome sequencing was done, which confirms our clinical diagnosis of Perrault syndrome. The patient was started on hormone replacement therapy and on regular follow up. We, present this case, due to infrequent incidence and also due to close differential of Turner syndrome.
Abstract 48
Authors: Patra Shinjan , Patra Suman , Nehra Hardev , K Anupriya , Mittal Madhukar , Shukla Ravindra
Published: February 2023

Introduction: Calcinosis cutis is an uncommon diseasethat results inprogressive deposition ofinsoluble calcium salts (crystals of calcium phosphate, hydroxyapatite) in the skin which can be intracutaneous, subcutaneous, intramuscular or intravisceral. Here we have described a very interesting case of idiopathic calcinosis cutis with mild hyperphosphatemia which didn’t respond to phosphate-lowering therapy.

Case description: A 12-year-old female presented with multiple cutaneous papules with chalky white discharge over both hands, left knee and both feet for last 2 years. The lesions got ulcerated and healed by hyperpigmentation. Initial metabolic workup revealed hyperphosphatemia and normocalcemia but her lesions remain unchanged after 6 months of phosphate-lowering therapy. On examination we foundmultipleerythematous firm nodule and plaqueover right 5th finger, left thumband right great toe along with multiple discharging sinuseswith bony swelling in left knee joint. There was no skin tightening or oral opening narrowing. There was no history of recurrent renal calculi, bony deformity or recurrent fragility fractures.

Our biochemical evaluation revealed mild hyperphosphatemia (6.64 mg/dl with age-specific upper limit of 5.9); Ca-9.85 mg/dl, 25 (OH) D- 14.60 ng/ml, iPTH- 92.2 pg/ml. Rest all metabolic parameters including renal functions were normal. 24 hours urinary phosphorus excretion and TmP/GFR didn’t reveal any abnormality along with normal FGF-23 (59.73 pg/ml). Markers for autoimmune diseases were non-reactive. The lesion biopsyruled out dermatomyositis. The patient was started on sodium metabisulphite along with diltiazem60 mg/day. The patient has improved significantly after 3 months of therapy.

Discussion: Dystrophic calcification is the commonest form which is characterized by calcification occurring in the dead or damaged tissue. Metastatic calcification occurs in calcium phosphorus combined products of more than 70. Inadvertent intake of calcium or phosphorus can lead to iatrogenic calcification. Initial mild hyperphosphatemia prompted a diagnosis of metastatic calcification in this case and the patient was put on sevelamer without any use. Mild hyperphosphatemia can be found in idiopathic calcinosis where no phosphate binder is warranted. In our case, a diligent and judicious biochemical workup ruled out hyperphosphatemic tumoral calcinosis and other causes of dystrophic calcifications.

Conclusion: The presence of mild hyperphosphatemia is red herring in our case. A judiciousapproach is prudent in any case of calcinosis to avoid over-treatment.
Abstract 49
Authors: Kumar Kiran , Pavithran Praveen
Published: February 2023

Background: ACTH independent cushings syndrome (CS) is commonly due to adenomas, carcinoma. Nodular adrenal cortical disease (NACD) is under appreciated and often missed. NACD is primarily divided into bilateral micronodular, bilateral macronodular and sporadic nodular which is non-functional (1). Here we describe our single centre experience of 8 cases of either bilateral micro or macronodular adrenal cortical disease.

Methods: The relevant clinical, radiological and genetic test related information pertaining to these cases is presented. Classification is made based on radiological and pathological criteria (WHO 2022).

Result: Out of 8 cases (5 male, 3 female), 3 cases of carneys complex (Age range:18-25), 3 of are bilateral macronodular (age range:41-66), 1 bilateral micronodular (iMAD) (Age-20) and 1 Mc cune Albright syndrome (MAS) (age-4 months) were noted. 2 out of 3 CNC has PRKAR1A mutation and 1 macronodular has ARMC5 mutation. Subclinical cushings syndrome was noted in the patients with macronodular adrenal disease. Patients with CNC and i MAD presented with frank cushings with near normal adrenal imaging. Rapid cycling of cortisol levels was noted in the subject with i MAD.

Conclusion: Pathology of nodular adrenocortical disease and the underlying molecular pathways defects is slowly being understood. While macronodular disease presents with subclinical disease, has easily made out radiological features, micronodular presents with frank clinical disease and near normal adrenal imaging features.
Abstract 50
Authors: Gaikwad Prashant Manohar
Published: February 2023

Introduction: About 60% of patients with IHH have associated anosmia and are labeled as Kallmann syndrome. It is associated with non sexual phenotypical features such as renal agenesis, synkinesia, sensorineural hearing loss, cleft lip and cleft palate. Midline defects are known to occur in kallmann syndrome, but association with situsinversus is not found till date, we have diagnosed patient with situsinversus, may be the first case in medical literature.

Case Report: 14-year old male presented with history of –small penile length, small testes, failure to attainsecondary sexual characteristics, progressive bilateral breast enlargement since two years, history of cleft lip that is operated at 1 year of age. Hormonal profile was suggestive of hypogonadotropic, hypogonadism.

MRI-suggestive of olfactory bulb, sulcus, lobe hypoplasia

USG abdomen-spleen right side, liver on left side Chest xray-suggestive of dextrocardia

Conclusion: Situsinversus may represent spectrum of midline defect and may have association with Kallmann syndrome.
Abstract 53
Authors: Venkatesh S , Suryadevara Varun , Prasad Aravind , Rashmi KG , Kumaravel S , Kamalanathan Sadishkumar , Sahoo Jayaprakash , Naik Dukhabandhu
Published: February 2023

Introduction: Primary hyperparathyroidism (PHPT) is a rare disease in paediatric age group with an estimated incidence of 2–5 cases in 100,000 live births. PHPT is characterized by excessive secretion of parathyroid hormone (PTH), responsible for hypercalcemia and hypophosphatemia. Most cases of PHPT are not hereditary and the familial PHPT accounts for 10–20% of cases.

Case Description: A 14 year old male child brought with complaints of pain abdomen in left loin radiating to left groin and was associated with nausea and vomiting. On evaluation there was hypercalcemia (13.48 mg/dl (normal range-8.8 - 10.6 mg/dl), hypophosphatemia (3.61 mg/dl) (normal range -4.0 - 7.0 mg/dl) and elevated intact PTH (231.5 pg/ml (18.4 - 80.1 pg/mL) suggestive of PTH dependent hypercalcemia. Further 4D computerised tomography neck and sestamibi scan localised to right superior parathyroid adenoma and ultrasound scan didn’t show parathyroid lesion. Subsequently he underwent right superior parathyroid adenectomy and serum calcium levels normalized after surgery. Clinical exome sequencing revealed heterozygous mutation c.2594T>C,P.phe86ser in the SLC12A1gene. Follow up after 2months revealed normocalcemia (9.6 mg/dl) (8.8 - 10.6 mg/dl).

Discussion: Solute Carrier Family 12-member 1 (SLC12A1) gene encodes the sodium-potassium-chloride co-transporter (NKCC2) at the apical membrane of the thick ascending loop of Henle (TAL). Bartter’s syndrome (BS) type I is a rare, renal tubular disorder associated with mutation of the SLC12A1 gene. The many allelic variants reported present with a spectrum of phenotypes, biochemical abnormalities and clinical severities. The case described suggest an association between primary hyperparathyroidism and loss of function mutation of SLC12A1, which may result in an aberrant threshold of the calcium sensing receptor at the level of the kidney

Conclusion: We hereby report a novel mutation (c.2594T>C,P.phe86ser) associated with primary hyperparathyroidism in SLC12A1 gene. This case report adds to the existing literature for emerging role of SLC12A1 gene in calcium homeostasis.
Abstract 55
Authors: Sreejith Babu , Rana Bhattacharya , Subhankar Chowdhury
Published: February 2023

Background: Graves orbitopathy is an immune mediated inflammation of extraocular muscles and retroorbital tissues that occur in patients with Graves disease. It is not yet clear why only a proportion of patients with Graves disease develop orbitopathy.

Objectives: To compare the clinical and biochemical profile of patients of Graves’ disease with and without orbitopathy.

Methods: This cross-sectional study was carried out from July 2021 to October 2022. Patients of Graves’ disease who presented in the Endocrine OPD or IPD were evaluated clinically and biochemically. Graves’ orbitopathy was diagnosed based on the criteria suggested by Bartley. Thus 30 patients without orbitopathy and 29 patients with orbitopathy were included.

Results: 3/27 (10.3%) patients with orbitopathy had active disease.1 patient had dysthyroid optic neuropathy. The male to female ratio among those patients with and without orbitopathy were 0.6 (11:18) and 0.4 (9:21) respectively. 8 out of 29 (27.5%) patients with orbitopathy and 1 out of 30 (3.3%) patients without orbitopathy were smokers. Among patients with orbitopathy 27.5% had a TRAB value of more than 40 while it was 13.3% among those without orbitopathy. The mean TRAB value of those with and without orbitopathy were 22.3 and 22.1 respectively.

Conclusion: Among patients with orbitopathy, more people had a higher TRAB titre when compared to those without orbitopathy. There was no significant difference in the mean TRAB titre between the two groups. The presence of orbitopathy was significantly associated with smoking.
Abstract 62
Authors: Joseph Aneez , Chacko Geeta , Pai Rekha , Dhananjayan  , Chacko Ari , Asha H. S.
Published: February 2023

Background: Surgical resection of growth hormone (GH) secreting pituitary adenomas causing acromegaly has a low remission rate of about 53%. Determining the expression of dopamine and somatostatinreceptorson these tumours may help in predicting response to medical treatment.

Objectives: The primary objective was to study the expression profile of dopamine receptor subtype2 (D2R) and, somatostatin receptor subtypes 2 and 5 (SSTR2 and SSTR5) in GH adenomas by immunohistochemistry and RT-PCR. We also intended to assess the relationship between D2R expression and response to cabergoline therapy defined by >50% reduction of GH from baseline, normalization of IGF-1 level or >50% reduction from baseline, or regression of tumour size >50%.

Methods: This was aretrospective analysis of pituitary tumoursamplesof patients with acromegaly operated in CMC Vellore from February 2005 to August 2018, and who did not attain remission following surgery. Immunohistochemical staining was performed on anautostainer, and mRNA expression was quantified by real time PCR. Clinicaland biochemical dataof patients were retrieved from the computerized hospital records. Data was analysed using SPSS version 21.

Results: Among 357 patients with acromegaly operated during the study period, adequate tumour samples were available in 36 cases. The mean age (±SD) of the patients was 34.2 ± 9.6 years. Before starting cabergoline therapy, the median GH level was 3.6 ng/ml (range 0.9-77.6), and median IGF-1 was 526 ng/ml (range 267-1540). The median duration of follow up was 14 (6-109) months; 16/36 patients had radiotherapy. SSTR2 immunostaining was positive in 78% (28/36) of the tumours; the median immunoreactivity score (IRS) was 2.5. SSTR5 immunostaining was positive in 39% (14/36) of the tumours, with IRS ranging from 0-12. D2 receptor immunopositivity was noted in 86% (31/36) of tumours; the median IRS was 4 (0-12). The median mRNA expression for SSTR2 was 0.542CT (0-46), for SSTR5 was 0.12CT (0-11.2) and D2 receptor was 15.5CT (1.5-2418.7). Among 23 patients treated with cabergoline, 9 (39.1%) responded to cabergoline with ³50% reduction in GH and/ or IGF1. ROC curve analysis showed that amRNA expression cut-off of ³19.21CT had a sensitivity of 87% and specificity of 77% to predict response to cabergoline therapy. D2R IRS showed no significant association with treatment response.

Conclusion: D2 receptor and SSTR2 immunostaining were positive in 86% and 78% of GH adenomas respectively, while SSTR5 immunopositivity was noted in only 39%. D2 receptor mRNA profiling of GH secreting tumoursis useful to predict response to cabergoline treatment.
Abstract 65
Authors: Honnatti Sharath , Fatema Zareen , Paradeshi Mrunal , Narendra BS , Basavaraj GS
Published: February 2023

Background: The advent of digital Diabetes self-management education (DSME) has revolutionized the management of people with Diabetes Mellitus (PwD). “Impact Program” works on the same guiding principles. The program offers management of the lifestyle factors involved in diabetes, including guidance on the dietary choices, exercises, management of stress, adherence to the regimen, reminders for the tasks and self-help educational material, leading to a positive behavioral change in PwD

Aim: To assess the effect of novel, personalized diabetes care program, OneCare “IMPACT” program, on metabolic outcomes among PwD.

Materials and Methods: It was a 3-month pretest-posttest study in PwD enrolled in a 12-week virtual care program. The health coach remotely monitored patients through weekly scheduled calls to track progress. The patient’s data, recorded by coach, including HbA1c, weight, medicines, program engagement was used for the analysis.

Results: 128 patients with complete data were included for analysis. The mean age of the participants was 43.46 (13.2) years, 69% were male, duration of DM diagnosis was 1.8 (.06-30) years, baseline HbA1c (%) of 8.8 (5.6-16), weight (kgs) of 74 (40-169). Decline in HbA1c (%) was -2.03 (SD 2.1, p < .001) with large effect size (d = 0.9). 66% of enrolled participants achieved post-HbA1c <7%. The significant mean improvement in FBS and PPBS (mg/dl) was -57.9 (SD 72.7) and -84.3 (SD 104.1) respectively. Mean weight (kgs) change was -2.8 (SD 4.01, p < .001) with effect size (d = 0.69). 36% had a reduction in weight of ³5%. 8% achieved reduction of ³10 percent. There was a statistically significant reduction in BMI of -0.97 kg/m2, (p=<.001). A significant positive correlation (r = 0.3) was found between weight reduction and post intervention HbA1c (p = .02). The mean attendance and engagement correlated well with the outcomes. At the start of program, 54% were onsulfonylurea &/or Insulin and 28% were prescribed SGLT2 inhibitors/GLP1 (n = 98). Post-intervention medication data (n = 63) revealed 47% had reduction and 44% continued same dose of diabetic medication, with <10% needing an upward revision.

Conclusion: Clinically meaningful metabolic outcomes were achieved through the program. Significant weight reduction despite majority of people on SU&/or Insulin highlights the importance of lifestyle care intervention. However, well designed RCTs in Indian context are required further to confirm the findings.
Abstract 69
Authors: Hathi Deep , Goswami Soumik , Sengupta Nilanjan , Baidya Arjun
Published: February 2023

Background/ Objective: Growth hormone deficiency (GHD) is a non-exceptional cause of short stature. Hormonal evaluation and hypothalamic- pituitary MRI are essential to establish the etiological diagnostic. The objective of our study was to find out the prevalence of MRI abnormalities in patients with GHD. Secondly, to find the correlation between radiological and biochemical and clinical correlates of GHD.

Materials and Methods: This isa retrospective longitudinal study of 50 patients with idiopathic GHD who underwent MRI examination at our hospital. The patients were classified into isolated GHD (IGHD) and multiple pituitary hormone deficiency (MPHD) to observe the difference in clinical, biochemical and MRI findings.

Results: A total of 50 patients were included in our study of which 16 patients had MPHD while 34 patients had IGHD. Prematurity, breech delivery, neonatal jaundice, micropenis, consanguinity was more common in MPHD group as compared to IGHD group. About 19 patients (38%) had MRI abnormalities of which majority were MPHD. In patients who had severe GHD (peak GH <3 ng/ml), (n = 20) 60% (n = 12) had MRI abnormalities while 7 (23.3%) patients with non-severe GHD had MRI abnormalities. Patients with height SDS <-3SD are more likely to have MRI abnormalities than patients with height SDS >-3SD.

Conclusion: About one- third patients with GHD are likely to have MRI abnormalities of which majority patients are MPHD. There is a positive correlation between severity of GHD and presence of MRI findings. Patients with severe short stature are more likely to have MRI findings.