bluuebunny/crossref_metadata_2025 huggingface dataset:
Abstract 133
Authors: Priya J , Svehlikova Eva , Arfelt Kristine Niss , Cailleteau Roman , Deller Sigrid , Thomsen Karen Margrete , Hart Marlies , Mursic Ines , Pieber Thomas , Haahr Hanne
Published: February 2023

Background: Insulin icodec is a basal insulin in development for once weekly (OW) dosing. Insulinicodec has a half-life suited for once weekly dosing, which could potentially improve treatment adherence, persistence, and clinical outcomes. Insulin icodec has an efficacy and safety profile similar to insulin glargine U100 as demonstrated in phase 2 clinical trials2,3,4 - phase 3a (ONWARDS) trials are ongoing.

Objective: Was to compare the hypoglycaemia frequency and response after icodec vs. insulin glargine U100 (IGlar) overdosing.

Methods: In a randomized, open-label, two-period crossover trial, 43 individuals with T2D on basal insulin ± metformin (mean ± SD age 56 ± 9 yrs, HbA1c 7.2 ± 0.7%) received OW icodec for 6 weeks and once-daily IGlar for 12 days at equimolar total weekly doses based on the individual daily run-in IGlar dose (mean 30 ± 14 U) titrated to a fasting SMPG target of 80-130 mg/dL. Once at steady state, double (DD) and triple (TD) doses of icodec and IGlar were followed by hypoglycaemia induction 44 h (icodec) or 7 h (IGlar) post-dose (expected time of maximum glucose-lowering effect): First, euglycemia was maintained at 100 mg/dL by variable i.v. glucose. Then, PG was allowed to decrease to a nadir of no less than 45 mg/dL maintained for 15 min. Euglycemia was restored by constant i.v. glucose. Hypoglycaemia symptom score (HSS) and counterregulatory hormones were assessed at PG 100 mg/dL and at predefined PG levels until nadir PG.

Results: For DD Clinically significant hypoglycaemia (PG < 54 mg/dL) occurred in 40 vs. 36% of subjects for icodec vs. IGlar (odds ratio 1.28; p = 0.63). For TD Clinically significant hypoglycaemia occurred in 53 vs. 70% of subjects (odds ratio 0.48; p = 0.14), mean nadir PG was 56 vs. 52 mg/dL (treatment ratio 1.07; p < 0.001), change in HSS at nadir PG was comparable for icodec vs. IGlar (treatment difference 0.46; p = 0.77), responses in adrenaline, noradrenaline and cortisol during hypoglycaemia development were greater for icodec vs. IGlar, while glucagon and growth hormone levels increased similarly.

Conclusion: A DD or TD of once-weekly insulin icodec does not lead to increased risk of hypoglycaemia compared to once-daily IGlar. During hypoglycaemia, a comparable symptomatic response and a moderately greater endocrine response were seen for icodec vs. IGlar.
Abstract 134
Authors: Jannabhatla V B Kasyapa , Tirupathe Sunanda
Published: February 2023

Background: Glucocorticoid deficiency associated with achalasia of the cardia and absent tear production was described by Allgrove et al. The estimated prevalence is 1 per 10,00,000 individuals. Lanes et al. suggested that a progressive degenerative process may be responsible for the three components of the disease and coined the term ‘triple-A syndrome’ (AAAS). Gazarian et al. referred this syndrome as ‘4A syndrome’ associating various autonomic and neurologic abnormalities as components. It is an autosomal recessive disease with mutation usually in the AAAS gene on chromosome 12q13. The gene produces alacrima-achalasia-adrenal insufficiency neurologic disorder (ALADIN), which belongs to the WD-repeat family of proteins. Clark and Weber et al. pointed out that the AAAS has variable phenotypic expression.

Case Report: A 9 years 9-month-old female child was referred from pediatrics for hypoglycemic seizures. Patient was apparently normal 5 years back. Parents observed blackening of the body with frequent fever, vomiting, abdominal pain and seizures for a year. She was diagnosed with hypothyroidism and seizure disorder and was prescribed levothyroxine and valproate. Addisons disease was diagnosed at another hospital and valproate was discontinued. Hydrocortisone was added. Later she discontinued the drugs. Now she has presented with similar complaints. Careful history revealed that she had “always cried without tears”, generalisedblackening of skin, recurrent vomiting and seizures. Her birth history was normal without delayed milestones. On examination she was irritable, had generalised hyperpigmentation, strabismus, pre-pubertal secondary sexual characters, and normal blood pressure. Investigations showed low serum cortisol, high ACTH, <1 mm Schirmer test score, bilateral partial optic atrophy, and bilateral thin and streaky adrenals on CT abdomen. Barium swallow did not show achalasia. In view of Alacrima, Adrenal insufficiency, and optic atrophy the diagnosis of Allgrove syndrome was considered and hydrocortisone was started. Patient has shown significant improvement. Levothyroxine was continued. Regular follow up is suggested.

Discussion: Majority of the AAAS patients present with achalasia but homozygous nonsense mutation in Exon 9 (R312X) and homozygous substitution in Exon 8 (S263P) were reported by ErdalKurnaz et al. with Alacrima and adrenal insufficiency without associated achalasia at presentation.

Conclusion: All children presenting with Alacrima in conjunction to Addisons disease should be suspected of Allgrove syndrome and periodically evaluated for achalasia and neurological defects as the onset can be variable.
Abstract 135
Authors: Gupta Saurabh , Sharma R. K. , Patni Maninder , Patira Nilesh
Published: February 2023

Intravenous insulin is a standard part of Diabetic Ketoacidosis (DKA) treatment. Electrolyte dysfunction is a part of the disease but sometimes occurs due to treatment leading to hypophosphatemia. In our patient it manifested as severe cardiac systolic dysfunction and hypotension. However, patient showed drastic improvement with Intravenous and oral Phosphate replacement in due course of time in ICU. As hypophosphatemia is often mild and does not require treatment in majority of cases, it should still not be overlooked as a cause of severe cardiac and neurological dysfunction. It often aggravates in non fed state and overlaps with other electrolyte and acid-base derangements leading to confusion but is still easily treatable and rewarding for both patient and physician.
Abstract 137
Authors: Channaiah Chethan Yami , Lila Anurag , Karlekar Manjiri , Memon Saba , Patil Virendra , Bandgar Tushar
Published: February 2023

Introduction: Aromatase deficiency might produce “non-classic” phenotypes due to variable degrees of residual enzyme activity.

Aim: To describe clinical, biochemical, radiological, management and outcomes in patients with 46 XX genetically proven aromatase deficiency from our center and systematic review the hormonal profile of patients with pathogenic variants of CYP19A1.

Methods: This retrospective study was conducted at Seth G.S. Medical college and K.E.M. Hospital, which includedall patients with genetically diagnosed aromatase deficiency. We searched the PubMed database with no date restrictions until October 2022 with the following search items “(aromatase deficiency) AND (46, XX OR ovaries). 35 46XX DSD patients harboring CYP19A1 pathogenic variants from the literature and seven patients from our center, a cohort of 42 patients was considered for final analysis.

Results: Our cohort - Out of seven patients, three (3/7) presented in prepubertal age [0.03 (0.019-0.75) years], three (3/7) in pubertal age [12.7 (9.7-13.0) years] and one (1/7) in adulthood (16 years). Atypical genitalia are the most common presenting complaint (6/7) and is present in all the seven patients (Prader II- 1/7, Prader III- 4/7, Prader IV- 2/7), one patient presented with absent secondary sexual characters.6/7 patients were reared as female child and one child was initially reared as male and switched to female after diagnosis. None of the children had gender dysphoria. Maternal virilization was evident in four patients (4/7). One patient (1/4) had spontaneous breast development with regular menses. Ultrasound pelvis shows cystic ovaries (2/7), hypoplastic ovaries (3/7) and normal ovaries (2/7).

Systematic review of hormonal profile: Patients are categorized in to four subgroups [0-0.5 yrs, 0.6-8 yrs, 8.1-13.0 yrs, >13.1 yrs]. All the values are expressed in median (IQR). Follicular stimulating hormone levels (mIU/ml) were consistently elevated in all the subgroup patients [37.4 (17.1-67.3), 21.7 (12.2-38.1), 14.2 (8.8-49.9), 28.4 (18.8-45.2) respectively]. Luteinizing hormone (LH) levels are predominantly elevated in group 1 and group 4 patients [4.9 (1.4-17.7), 1.0 (0.3-2.7), 1.5 (1.3-11.5), 23.7 (16.2-33.9)]. Testosterone (ng/ml) levels [0.37 (0.09-0.9), 0.07 (0.04-0.1), 0.29 (0.1-0.9), 0.6 (0.4-0.8)] and androstenedione [0.63 (0.17-1.4), 0.30 (0.2-0.4), 1.44 (0.8 -1.5), 2.8] have a biphasic pattern similar to LH, elevated during minipuberty and puberty. Estradiol levels are constant in all the subgroups [10 (3.0-11.5), 10 (5.0-18.6), 46.9 (n = 1), 19.4 (8.7-28.1)].

Conclusion: Ambiguous genitalia, maternalantenatal virilization, and markedly elevated FSH levels are important diagnostic indicators. Absence of multicystic ovaries and maternal virilization should not rule out the diagnosis.
Abstract 138
Authors: Priyanka R , Vasanthiy N , Riyaz Nivethitha , Sridhar S
Published: February 2023

Background and Objectives: Neonatal diabetes is defined when onset of diabetes is within 6 months of life. It is characterized into transient, permanent, and syndromic forms. Several monogenetic mutations in beta cells is associated with neonatal diabetes. Various genes are associated with specific inheritance pattern, phenotype, clinical features and treatment. The aim of present study is to implicate the role of genetics in prognosis and treatment outcomes of neonatal diabetes.

Case Series

Case 1: 2 month old female child presented with diabetic ketoacidosis (DKA). On evaluation C peptide was 0.1 ng/ml and anti-GAD negative. Once acute episode resolved was switched over to subcutaneous insulin with injection Glargine oneunit daily and injection Lisproaccording to blood sugars. Genetic analysis showed homozygous mutation in EIF2AK3gene which is associated with Wolcott Rallison syndrome. The syndrome is associated with earlyonsetpermanentneonataldiabetes, renal, hepatic dysfunction, skeletal dysplasias, pancreatic insufficiency and neutropenia. At present the child does not have any of theabovesyndromic manifestations and need for lifelong insulin therapy is advised and is under regular follow up.

Case 2: 2-month-old male child presented with DKA. On evaluation C peptide was 0.05 ng/ml and anti-GAD negative. Once acute illness resolved, blood sugars were maintained with injection Glargine 4 units once daily and injectionLispro according to blood sugars. Genetic analysis showed heterozygous mutation KCNJ11 gene. It is associated with DEND syndrome and permanent neonatal diabetes responding to sulphonylurea. Infant was switched over from insulin therapy to sulphonylureas at 3.5 months of age after a genetic diagnosis was made. Glyburide was up titrated slowly and blood sugars were maintained at a dose of 1 mg /kg/day without insulin. Now HBA1c on follow-up is 7.0%.

Case 3: 4 day old very low birth weight baby had persistent high blood sugars with no features of DKA. On evaluation C peptide was 0.029 ng/ml and anti-GAD negative. Blood sugars were maintained with injection Glargine 2 units once daily and injectionLispro according to blood sugars. Genetic analysis revealed homozygous mutation in Glucokinase genewhich is associated with permanent neonatal diabetes. The need for lifelong insulin treatment was advised.

Conclusion: Genetic analysis should be done as soon as neonatal diabetes is diagnosed. Certain forms of neonatal diabetes like ABCC8 and KCNJ11 may respond to sulfonyl urea thus preventing lifelong insulin therapy. Also genetic analysis may help in differentiating temporary and permanent neonatal diabetes and to look for associated abnormalities.
Abstract 140
Authors: Channaiah Chethan Yami , Bandgar Tushar , Memon Saba , ManjiriKarlekar  , Patil Virender , Lila Anurag
Published: February 2023

Context: Cushing’s disease (CD) due to macrocorticotropinoma (MC) in children and adolescents is a rare entity with limited information regarding its characteristics.

Objective: To describe the clinical, biochemical, imaging, management, outcome and genetic characteristics of children and adolescents with CD due to MC (n = 32) and compare them with those of microcorticotropinoma (mc, n = 65)

Design: Retrospective study (January 1997-January 2021)

Setting: Single tertiary-care center

Patients: Children/adolescents £ 20 years at the diagnosis of CD due to MC (maximum tumor diameter of >1 cm).

Results: Nineteen girls and 13 boys with MC presented at a median (IQR) age of 14.5 (12.0-17.9) years. Patients with MC had higher body mass index-standard deviation score (BMI-SDS) (3.70 ± 2.60 vs 2.59 ± 2.01, p 0.04), more frequent neuro-ophthalmic symptoms (25% vs 9.2% p 0.04) and short stature (58.6% vs 34.4%, p 0.049) but less frequent livid striae (53.1% vs 78.1%, p 0.01), and hypokalemia (11.5% vs 36.2%, p 0.04) and lower cortisol (nmol/l) to corticotropin (pmol/l) ratio (41.20 vs. 55.74, p 0.05) than those with mc. The remission (58.6% vs 64.4% p 1.0) and relapse (52.9% vs 36.8% p 0.26) rates after first-line surgery and remission rate after radiotherapy (RT) were comparable between the two cohorts whereas time to remission after RT (27 vs 13 months, p 0.05) was longer in the MC group. A patient with MC had a pathogenic germ line variant in CDH23.

Conclusion: In this large monocentric series of pediatric CD, frequent mass effect symptoms and short stature, higher BMI-SDS, less frequent livid striae and hypokalemia with lower effective cortisol secretion characterize the MC cohort. The outcomes of surgery and RT were similar between the groups except for a longer time to remission after RT in the MC cohort.
Abstract 146
Authors: Sharma Kriti , Kumar Shiv , Prakash Ravi , Khanka Sonu , Mishra Tripti , Narendra T. , Singh Divya
Published: February 2023

Objective/Backgrounds: Inflammation, a common phase during bone healing is reported to negatively affect bone regeneration. Inflammatory bone loss conditions like periodontitis, inflammatory arthritis and periprosthetic osteolysis, all driven by Lipopolysaccharide (LPS), which has been identified as a key pathogenic agent. Infact, inflammatory bone diseases not only associated with generation of inflammatory cytokines but also produce local oxidative stress by intracellular reactive oxygen species (ROS). Till date, there are limited therapeutic approaches for inflammation triggered osteoblast differentiation inhibition. Chebulinic acid (CA), a plant ellagitannin derived from fruits of Triphala (Terminalia Chebula) reported to exhibits anti-inflammatory & anti-oxidant activity. However, its role in preventing inflammatory bone loss condition induced by lipopolysaccharide (LPS) remains unknown.

Methods: For LPS induced inflammatory bone loss model, 10wk old male C57BL/6J mice were taken & divided into Control (PBS), LPS, and LPS (5 mg/kg; IP injection) +CA (10 mg/kg; orally) groups. After 21 days, bones and serum were collected; micro-CT analysis, Elisa and histomorphometric evaluation were conducted. In vitro, murine osteoblasts were treated with vehicle, LPS (800 ng) and LPS+CA (10 nM). Thereafter, cell differentiation, viability and proliferation, Inflammatory behaviour, Cellular & mitochondrial oxidative stress, and NFkBsignalling were determined.

Results: Our results shows that LPS inhibited bone remodelling, formation& regeneration, and also promoted oxidative stress accumulation within cell by producing inflammatory cytokines. Upon Chebulinic acid (CA) administration, LPS-induced bone destruction &biochemical changes ameliorated with marked protective effect by enhancing bone formationinvivo. In osteoblast cells, LPS treatment causes osteoblast dysfunction by increased ROS at cellular & mitochondria levels with enhanced expression of inflammatory cytokines. Chebulinic acid (CA) improves the inhibitory effect of LPS on osteoblast functions by enhancing cell differentiation and proliferation. Moreover, CA inhibited the oxidative stress & mitochondrial dysfunction stimulated by LPS treatment by blocking increased secretion of inflammatory cytokines Mechanistically, CA presented remarkable protective effects against LPS treatment by blocking NFkBsignalling.

Discussion/Conclusions: Our results proclaim the protective role of CA against LPS-induced inflammatory bone loss & inhibitory effect on total ROS levels and inflammation. Collectively, Chebulinic acid holds as a potential novel therapeutic strategy for inflammatory diseases in bones.
Abstract 147
Authors: Sharma Anima , Patil Virendra , Sarathi Vijaya , NilenduPurandare  , Hira Priya , Memon Saba , Jadhav Swati S , ManjiriKarlekar  , Lila Anurag R. , Bandgar Tushar
Published: February 2023

Background: Accurate pre-operative parathyroid lesion localization remains a prerequisite for successful minimally-invasive parathyroidectomy in children/adolescents with primary hyperparathyroidism (PHPT). There is no data on dual-phase computed tomography (CT) for parathyroid localization in adolescents.

Methods: Two radiologists reviewed dual-phase (nonenhanced and arterial) CT images of twenty-three operated adolescents [21: single-gland disease (SGD), 2: multi-gland disease (MGD)] with proven histopathological PHPT. Non-enhanced and arterial-phase attenuation were recorded to obtain percentage arterial enhancement (PAE) [100*{arterial-phase Hounsfield unit (HU)-nonenhanced phase HU}/nonenhanced HU)] of the parathyroid lesion(s), thyroid, and lymph node.

Results: Dual-phase CT lateralized 20/20 (100%), localized to the correct quadrant/site 17/20 (85%) of SGD (including 3/3 ectopic), and identified 1/3 MGD. PAE (cutoff ³ 112.3%) was sensitive (91.3%) and specific (99.5%) in distinguishing parathyroid lesions from local mimics (P < 0.001). The average effective dose was 3.16 ± 1.01 mSv, comparable to the planar/single photon emission CT (SPECT) Technetium 99m(Tc)-sestamibi and choline positron emission tomography (PET)/CT scans. Solid-cystic morphology identified in 4 patients with pathogenic/likely pathogenic germline variants (3:CDC73, 1:CASR) may serve as a radiological clue to the molecular diagnosis.

Conclusion: Parathyroid lesion wash-in characteristics enable accurate lateralization, quadrant-specific localization, and discrimination from local mimics, along with low radiation exposure, facilitating focused parathyroidectomy in adolescents with PHPT.
Abstract 148
Authors: Nonglait Phibakordor L. , Madhu Sv , Raizada Nishant
Published: February 2023

Background: Involvement of the endocrine system has been well characterized in the acute stage of COVID-19. Long-term sequelae of COVID-19 involving various systems with a negative impact on mental health, well-being, and quality of life have been reported. Observational studies from different populations revealed a variable proportion of endocrine dysfunction following SARS-CoV-2 infection. The spectrum ranges from normal function to the persistence or emergence of new dysfunction up to 12 weeks post-COVID.

Objective: To determine the spectrum of endocrine dysfunction in COVID-19-recovered individuals.

Methods: Patients were recruited 8-20 weeks following recovery from COVID-19. They were further stratified according to disease severity as defined by the ICMR criteria. Demographic and clinical details, physical examination, basal and stimulated cortisol, DHEAS, ACTH, TSH, fT4, fT3, LH, FSH, Testosterone, SHBG, AMH, prolactin, fasting blood glucose (FBG), Hba1c, insulin, c-peptide levels with calculated HOMA-IR and HOMA-beta were done.

Results: Eighty-three subjects were recruited of which 33 (39.7%) and 50 (60.3%) belonged to mild and moderate to severe COVID respectively. There were 50 male and 33 female subjects. The mean duration after recovery was 14.7 weeks. Sixty-nine subjects (83%) had new or persistent symptoms. Thirty-seven subjects (44.6%) had some form of endocrine dysfunction. Thyroid function abnormalities were observed in 18 subjects (21.6%) [Subclinical hypothyroidism (18.1%), overt hypothyroidism (1.2%), Central hypothyroidism (2.4%)]. Primary and Secondary adrenal insufficiency was documented in 1 (1.2%) and 15 (18.1%) subjects respectively. A higher prevalence of adrenal insufficiency was noted among those who received steroids (62.5% vs. 37.5%). Hypogonadism was observed in 10 males [Primary 2 (4%) and Secondary 8 (16%)]. Central endocrine dysfunction involving two axes was noted in 3 patients. There was no association was between the severity of COVID and any of these endocrine dysfunctions. Among 67 patients with no history of Diabetes Mellitus (DM), 6 (9%) patients had dysglycemia [3 new-onset DM and 3 Pre DM]. Significant differences were also noted between the means of waist circumference (p = 0.003), FBS (p = 0.02), HOMA IR by insulin (p = 0.04) and c-peptide (p = 0.001) among non-DM patients when compared for disease severity [mild (n = 29) vs. moderate-severe (n = 38)].

Conclusion: Our study highlights that endocrine dysfunction involving different endocrine axis can be seen up to 20 weeks post-COVID in patients with no prior history of endocrine disorder. The most common dysfunction observed was of the thyroid followed by the adrenal axis.
Abstract 151
Authors: Anbarasu K R , Gupta Sushil Kumar
Published: February 2023

Introduction: In addition to the traditional micro vascular and macro vascular disease, frailty and sarcopenia are emerging as a third category of complications leading to considerable disabilityon the quality of life of elderly people with Type 2 Diabetes Mellitus (T2DM). Sarcopenia is recognized as an independent condition by the International Classification of Disease, Tenth Revision, Clinical Modification (ICD-10-CM), code (i.e., M 62.84)

Objective: To study the sarcopenia and its associated factors among ambulatory community- dwelling older patients with T2DM. Use of SARC-F as screening questionnaire in predicting sarcopenia south Asian population T2DM population

Methods: In this cross-sectional study we enrolled 100 patient with type 2 diabetes mellitus (age >50 years). All the enrolled subjects underwent detailed micro vascular and macro vascular complications screening, aBMD (L1-L4, total hip and femoral neck), muscle strength (dominant handgrip strength by hand held dynamometer), muscle mass (appendicular skeletal muscle index by DXA) and muscle performance (short physical performance battery)

Results: Based on EWGSOP2 2018 criteria of sarcopenia, 30.4% [n = 25 (male – 11, female -14)] of subjects had low muscle mass [7.3% (n = 13) pre-sarcopenia, 6% (n = 5) sarcopenia, 8.5% (n = 7) severe sarcopenia]. According to AWGS 2019 criteria, 22% [n = 18 (male – 11, female -7)] of subjects had low muscle mass [7.3% (n = 6) pre-sarcopenia, 7.3% (n = 6) sarcopenia, 7.3% (n = 6) severe sarcopenia]. DXA bone mineral density showed osteopenia in 48.8%, osteoporosis in 12.2%. Instant vertebral assessment showed vertebral deformity in 9.8% (n = 8) [biconcave (n-3), wedge (n = 4), crush (n = 1)]. SARC-F > 4 is present in 2% subjects (n = 2), both subjects were female (all had severe sarcopenia).

Conclusion: In our study, prevalence of low muscle mass is 30.4% (EWGSOP2 2018 criteria of sarcopenia), 22% (AWGS 2019 criteria). 61% subjects had abnormal bone mineral density (osteopenia in 48.8%, osteoporosis in 12.2%). SARC-F questionnaire may be used as a community-based screening tool for sarcopenia, since SARC-F has 100% specificity in screening for severe sarcopenia. Community based interventions needed for screening and early intervention management frailty and osteosarcopenia among elderly diabetes population
Abstract 156
Authors: Dwivedi Neelesh Kumar , PushprajSingh  , Totade Sanjay
Published: February 2023

Background: 17% in the world with diabetes is from India. Chronic inflammation plays a central role in the development and progression of diabetes and in the pathogenesis of its complication. NLR should be used as a marker of diabetic control level ln addition to HbA1C ln type 2 diabetic subjects. RDW might be considered as an effective predictive index in the evaluation of diabetic nephropathy or diabetes associated complications. MPV is higher in those who have microvascular complications such as retinopathy or Microalbuminuria.

Objective: To study the changes in various haematological parameters in type 2 diabetic mellitus patients. To assess Neutrophil/lymphocyte ratio, platelet/lymphocyte ratio, mean platelet volume (MPV), HbA1c cand RDW as a predictive inflammatory marker in type 2 diabetic mellitus. To correlate the haematologicalchanges in type 2 diabetes mellitus patients associated with diabetic nephropathy and retinopathy.

Material and Method: It’s a case control study included 200 sample – 100 case (diabetic) and 100 control (non-diabetic).

Results: 200 patients included in study 100 cases (diabetic) in which 57.8% (male) and 42.2% (female) has diabetes. Most of the age group between 55-65 yrs of age (38%) has diabetes NLR raised in diabetic group shows significant value (0.001). MPV raised in diabetic group and is significant (0.0001). PLR raise in diabetic group as compared to control group shows significance (0.0001) and HbA1c raised in patient with microvascular complication. RDW significantly raised in case than control group.

Conclusion: In this study with non- diabetic group as control, haematological parameter in diabetic patients in outdoor patient department and during hospital stay analysed found that patient with microvascular complications and with raised HbA1C (>7.5%) has significantly raised NLR, PLR, MPV, RDW. Simple complete blood count can be used as an effective tool to monitor glycemic regulation in type 2 DM.
Abstract 158
Authors: Kempegowda Punith
Published: February 2023

Objective: To assess the impact of ethnic and geographic variation on emotional and psychosexual wellbeing in women with Polycystic Ovary Syndrome (PCOS).

Design: Cross-sectional study.

Setting: Community-based setting with recruitment via social media through patient support groups.

Population: Women with PCOS completing online questionnaire in September-October 2020 (UK) and May-June 2021 (India).

Methods: Four validated questionnaires were included: Hospital Anxiety and Depression Scale (HADS), Body Image Concern Inventory (BICI), Beliefs About Obese Persons Scale (BAOP) and Female Sexual Function Index (FSFI). We used adjusted linear and logistic regression models, adjusting for age category, education level, marital status and parity, to evaluate the impact of ethnicity and birthplace, as well as questionnaire scores and outcomes (Anxiety and/or Depression [HADS ³11]); Body Dysmorphic Disorder [BDD; BICI ³ 72]).

Main Outcome Measures: Anxiety, depression, BDD and sexual dysfunction.

Results: 1008 responses were included. Women of non-White ethnicity (611/1003) reported higher rates of depression (Odd’s ratio [OR] 1.96 [95% CI 1.41-2.73]) and lower BDD rates (OR 0.57 [95% CI 0.41-0.79]) than White ethnic women (392/1003). Women born in India (453/1008) had higher rates of anxiety (OR 1.57 [95% CI 1.00-2.46]) and depression (OR 2.20 [95% CI 1.52-3.18]), but lower BDD rates (OR 0.42 [95% CI 0.29-0.61]) than women born in the UK (433/1008). All sexual domains, excluding desire, scored lower for non-White ethnic women and women born in India.

Conclusion: Our study investigating emotional and psychosexual wellbeing in women with PCOS reveals high rates of anxiety, depression and body dysmorphic disorder, poor body image, weight stigma and sexual dysfunction. Non-White ethnic women and those born in India reported higher emotional and sexual dysfunction, whereas White ethnic women and those born in the UK reported higher body image concerns and weight stigma, despite adjustment for confounders. In particular, this emotional and psychosexual illbeing can be influenced by ethnicity and birthplace. This warrants the need for regular in-depth universal screening and emphasises the role of a psychologist in the PCOS multidisciplinary team to provide comprehensive care.
Abstract 161
Authors: Maldar Aasim , Prasanth Amritha , Chauhan Phulrenu , Shah N.F. , Chadha Manoj
Published: February 2023

Objective: To determine the prevalence of disease specific auto-antibodies: anti-glutamic acid decarboxylase (anti-GAD), anti-zinc transporter (anti-ZnT8), anti-islet cell (AICA), insulin autoantibody (IAA), and other organ specific autoantibodies: anti-thyroid peroxidase (anti-TPO) and IgA anti-tissue transglutaminase (anti-tTG) in children with T1D. To evaluate correlation between antibodies positivity and clinical parameters related to T1D.

Methods: 300 insulin requiring children, with onset of diabetes between 6 months and 18 years of age, attending the T1D clinic of our institute between Jan-19 and Apr-22, were enrolled. T1D was diagnosed as per the ISPAD criteria, coupled with documentation of insulinopenia (fasting C-peptide <0.6 ng/ml). Children with secondary, neonatal, monogenic and drug induced diabetes were excluded. 272 patients were included in the analysis. Continuous and categorical data are presented as mean ± SD and frequency (%), respectively. Pearson’s coefficient was used to determine correlation between the various parameters.

Results: Mean age of our cohort was 10.5 ± 4 years, with 53.3% girls. Mean age at diagnosis was 7.4 ± 3.9 years, with 3.1 ± 3.2 years being the mean duration of diabetes.12.5% children were hypothyroid and 15.1% had celiac disease. Anti-GAD, anti-ZnT8, AICA and IAA antibodies were present in 58.5%, 32.3%, 32% and 16.9% children, respectively. 22.1% patients were antibody negative. At least two antibodies were present in 27.6%. Three antibodies were present in 11%, and 3.3% had all four auto-antibodies positive. The presence of anti-TPO and IgA anti-tTG was seen in 28.3% and 13.6%, respectively. Age at diagnosis positively correlated with anti-GAD positivity, and negatively correlated with IAA positivity. Duration of diabetes negatively correlated with T1D antibodies positivity, multiple antibodies positivity, and anti-GAD, anti-ZnT8 and AICA positivity. There was no gender difference observed. Presence of nephropathy and retinopathy negatively correlated to anti-GAD positivity. Anti-TPO positivity was more common in the female children. Presence of IgA anti-tTG negatively correlated with age of T1D onset, and positively correlated to duration of diabetes.

Conclusion: Children diagnosed at younger age are more likely to be anti-GAD positive, while those diagnosed at older age are more likely to demonstrate IAA positivity. Positivity for multiple auto-antibodies, and anti-GAD, anti-ZnT8 and AICA decreases with increasing duration of diabetes. Girls are more likely to develop anti-TPO positivity, while IgA anti-tTG positivity is seen in older children and those with longer duration of diabetes.
Abstract 162
Authors: Agrawal Parag , Gupta Ajay , Prashant Swati , Verma Abhyudaya , Bhangdiya Rohit
Published: February 2023

Background: The Bardet–Biedl syndrome (BBS) is a rare ciliopathic Autosomal Recessive disorder, with features like central obesity, retinal dystrophy, polydactyly, mental retardation, hypogonadism and renal failure. Less than 15 cases have been reported from India. There is no disease-specific treatment, but management of its manifestations and prevention of its complications are most important to prevent morbidity and mortality.

Case Presentation: A 9-year female presented to Endocrinology Out patient department with obesity, polydactyly, ataxia and visual complaints. On examination, she also had hypogonadism, acanthosis nigricans, retinitis pigmentosa and crowding of teeth. A diagnosis of BBS was made based on Beales et al criteria (attached in the table form) and associated features of the condition were screened for which also revealed hypertriglyceridemia. She was advised dietary modifications and genetic counselling was offered to the family. She was also advised regular follow up for screening of complications.

Conclusions: BBS is a rare clinical condition often unnoticed by clinicians. Renal failure is the leading cause of morbidity and mortality in these patients and regular follow up for early detection is vital to halt its progression. The combined presence of postaxial polydactyly, blindness, learning disabilities, renal malformations, and obesity in a patient should alert to the possibility of BBS
Abstract 163
Authors: Arora Isha , Madhu S. V. , Raizada Nishant
Published: February 2023

Introduction: Type 2 diabetes is a heterogeneous disease and its categorization into different clusters has revealed distinct subgroups from all over the world including India but no such study has been done till date in north India.

Aims and Objectives: To identify clusters intype 2 diabetes mellitus by k means clustering and to describe different characteristics of patients in each of the identified clusters.

Methods: Optimal number of clusters i.e., the K value was decided by two step clustering and the subtypes of the clusters were obtained by K means clustering using SPSS version 29 software. Variables which were used for clustering were age atdiagnosis, BMI, HbA1c, HOMA islet and HOMA insulin resistance (based on fasting C-peptide levels) along with waist circumference which has important role in type 2 diabetes mellitus physiology in south east Asians.

Results: Total number of participants were 520, out of which 47.7% were males and females were 52.3%. The optimal number of clusters i.e., K = 4 was determined based on silhouette width. Using this K value K means clustering was done which resulted in formation of clusters differing in phenotypic characters. Cluster 1 severe insulin deficient diabetes (SIDD), Cluster 2 Mild age-related diabetes (MARD), Cluster 3 severe insulin resistant diabetes (SIRD), Cluster 4 mild obesity related diabetes (MOD). Phenotypically these clusters were same as defined by Ahlqvistet al in Scandinavian population. When compared with these Swedish clusters, MOD cluster was most common in our study population (37.1% vs 21.6%). SIDD cluster was more common than in Swedish study (21.3% vs 17.5%). In Swedish study MARD cluster was most common (39.1%) where as in our study it constituted 24.2% of patients.

Conclusion: This study suggests that clusters in type 2 diabetes can be replicated in different ethnicities and highlights importance of including waist circumference in clustering in Asian Indians. Further studies are needed to look at differences in treatment response when treatment targeting the basic pathophysiological mechanism in different clusters is given to the respective clusters.
Abstract 166
Authors: Pandey Abhishek , Naik Balaji Tejerao , Gumpina Srinivas Susheel , Jadhav Swati Sachin , Shivaprasad C , Sharma Dipti
Published: February 2023

Introduction: Tall cells subtype of papillary thyroid carcinoma (TC-PTC) is the most frequent aggressivevariant of PTC. Several meta-analyses have consistently reported aggressive features of thetall cell subtype as compared to conventional PTC. Consequently, 2015 American thyroid association guidelines have attributed the ‘intermediate risk’ category to the presence of tall cell histology alone. However, there is considerable inter-observer variability in thehistological diagnosis of TC-PTC. Moreover, the diagnostic thresholds for Tall Cell definition (in terms of height to width ratio of cells and percentage of such tall cells) have undergone revisions from time to time. We hereby describe a remarkably benign 11 years course of a young patient with TC-PTC.

Case Report: A 23-year-old woman (at the time of diagnosis in 2011) underwent evaluation for a palpable thyroid nodule. USG showed 2 cm x 1 cm solid nodule in left lobe of thyroid. FNAC wasreported as lymphocytic thyroiditis. However, the patient chose to undergo surgery. A total thyroidectomy was done. Histopathology described the presence of an infiltrating neoplasm with cells arranged in both papillary and follicular patterns in the background of Hashimoto’s thyroiditis. The cells were described as large, and tall with abundant eosinophilic cytoplasm and ground glass nuclei. The final impression was given as ‘papillary thyroid carcinoma with probably a tall cell variant”. She underwent a diagnostic I131 iodine scan which revealed no uptake in the neck or elsewhere because of which remnant ablative dose was deferred. In the 11 years interval of follow-up, she underwent periodic diagnostic RAI scan with stimulated thyroglobulin levels which showed excellent response as per the ATA dynamic risk stratification.

Discussion: Through this case, we wish to take the opportunity to discuss several clinically relevant questions regarding of TC-PTC with the appropriate search of literature including relevant meta-analysis and large volume single-center studies. Difficulties in diagnosis: Could the diagnosis be suggested pre-operatively by USG or on FNAC? What were the deficiencies in histopathology report? Prognostication of TC-PTC: Literature comparison.
Abstract 170
Authors: Singhania Pankaj , Das Debaditya , Bhattacharjee Rana , Chakraborty Partha Pratim , Mukhopadhyay Satinath , Chowdhury Subhankar
Published: February 2023

Introduction: Rickets due to renal tubular acidosis is not uncommon, but rarely diagnosed. We describe four cases of proximal renal tubular acidosis presenting with short stature and rickets. After excluding nutritional, calcipenic and commoner causes of rickets, proximal renal tubular dysfunction was diagnosed in all cases.

Case1: Our first case is a 7-year-old boy with pathological fracture, protuberant abdomen and radiological features of rickets. The boy had phosphaturia, glucosuria, and proteinuria. Genetic testing confirmed a diagnosis of Fanconi- Bickel syndrome with mutation in SLC2A2. He is on phosphate and calcitriol replacement.

Case 2: The second case is that of a short girl with lower limb deformity. She had phosphaturia, metabolic acidosis, aminoaciduria hypokalaemia, crystals on the cornea and hypothyroidism. Leucocyte cysteine levels were elevated. Genetic analysis revealed nephropathic cystinosis.

Case 3: The next case is a 2-year-old female presenting with delayed development, polyuria and widening of wrists and ankles. There was profound hypophosphatemia, phosphaturia, metabolic acidosis, glucosuria, aminoaciduria and multiple liver nodules on Ultrasonography. Mass spectrometry analysis of blood and urine gave a diagnosis of tyrosinemia type1.

Case 4: Our fourth case is 10-year-old boy presenting with diminution of vision and short stature. There was severe metabolic acidosis with adequate urinary acidification and delayed bone age. Eye examination showed a band shaped corneal opacity in both eyes. The overall picture was suggestive of Sodium bicarbonate cotransporter (NBC) defect in the proximal tubule.

Discussion: These cases represent four rare and difficult to diagnose causes of short stature and rickets due to proximal renal tubular involvement. Short stature, metabolic acidosis, varying degrees of proximal tubular defect are common to all these cases with unique overtones. Renal phosphate wasting is seen in most. Oral phosphate, active vitamin D3, alkali form the cornerstone of management with individualisations.
Abstract 174
Authors: Manglunia Ankit , Singh Jaspreet , Mangaraj Swayamsidha , Swain Jayshree , Kanwar Jayabhanu , Sahoo Abhay
Published: February 2023

Objective: To compare concordance/discordance rates in prediction model of 10-year probability of hip and major osteoporoticfractures (MOF) utilizing Fracture Risk Assessment Tool (FRAX) calculations with and withoutbone mineral density (BMD). Furthermore, we aim to characterize difference in various parameters between concordant and discordant groups based on above prediction tool.

Method: A retrospective review of patients who underwent BMD measurement and FRAX assessment was conducted. Patients > 40 years were included and FRAX prediction scores were calculated with and without BMD using the FRAX India tool. Subjects were separated on the basis of identical and different treatment recommendations. Fracture risk factors were compared between groups using simple Student’s t test analysis of numerical variables and Fisher’s exact test analysis of binary variables.

Results: Out of total 354 subjects, 285 (80.50%) had similar management outcomes with or without BMD in FRAX estimation. The discordant group had a higher mean age (63.1 years; p <0.00024) with similar BMI status. Glucocrticoid use was significantly more prevalent in discordant group (40.5% vs. 27.7%; p <0.03) whereas history of parent hip fracture was more frequent in concordant group (11.6% vs. 2.9%; p <0.03).

Conclusion: In most cases, FRAX alone provided the same prediction as FRAX with BMD in fracture prediction models required for management recommendation in majority of cases in our cohort. Older age and priorglucocorticoid use are more frequently seen in discordant group whereas prevalence of parent hip fracture was common in concordant group.
Abstract 179
Authors: Kumar Ega Lakshman , Sahay Rakesh , Neelaveni K.
Published: February 2023

Introduction: Primary generalized glucocorticoid resistance (PGGR) is a rare hereditary disease that was first described in 1976 by Vingerhoeds et al., and its molecular mechanism was elucidated in 1982 by Chrousos et al. It is characterized by -Generalized / partial target-tissue insensitivity to glucocorticoids with hyperactivation of the HP axis, adrenocortical hyperplasia/hypertrophy, increased adrenal cortical steroids. HPA axis circadian rhythm and responsiveness to stressors are intact in GRS.

Case Report: 8 year-old boy was brought to hospital with C/O weakness of both UL and LL for past 4-5 days, was found to have hypokalaemia for which he received treatment. Noticed facial hair, pubic hair, axillary hair since last 3 years. Examination revealed Hypertension which needed enalapril and spironolactone for control. H/A was 11 yrs 6 months (> +3 SDS), W/A 10 years 10 months (@ 90th centile), SMR-A2 P3, B/L Testis- 25cc, Nodular & firm in consistency. Biochemical investigations suggestive of Elevated cortisol, ACTH and 24 hour- urine free cortisol, Androgen excess and Low PAC & PRA and metabolic alkalosis with hypokalemia. Bone age of 13 years, Imaging was suggestive of B/L bulky adrenals and B/L testicular adrenal rest tumours.

Discussion: The clinical spectrum of GRS is broad. AVariable clinical phenotype is due to decreased receptor number, delayed translocation, DNA binding & transactivation, genetic or epigenetic factors. Dexamethasone activates the mutant and/or wild-type hGRα.

Conclusion: GRS is a heterogenous disorder with very broad clinical spectrum. 11 beta hydroxylase deficiency and GRS are clinically indistinguishable. Genetic testing has a role. Serum and urinary cortisol, which are low/ low–normal in 11-BHD but elevated in GRS. Aim of treatment with dexamethasone is to suppress the excess secretion of ACTH and adrenal steroids.
Abstract 180
Authors: Nevin S , Kumar Ega Lakshman , Kalam Sumayya Abdul , Srujana T , Neelaveni K , Arvind G , Sahay Rakesh Kumar
Published: February 2023

Background: In refractory primary hypothyroidism, even after ruling out important organic causes the resistance may persist and is called pseudo-malabsorption. If non-adherence is suspected, but not volunteered, the options to confirm the possibility are limited. We conducted this study to assess the use of Levothyroxine absorption test to diagnose pseudo-malabsorption and once weekly Levothyroxine to treat such patients

Methods: This was an open labelled Randomized Control Trial with a Parallel design. All patients with age 18 or above attending Endocrinology OPD who was diagnosed with Primary Hypothyroidism but had TSH levels more than 10 mIU/L despite treatment with daily Levothyroxine at a dose of 2.5 mcg/kg/day for a period of 6 months or more were included after applying exclusion criteria after getting informed consent. Levothyroxine absorption test was done according to previously validated protocol and Absorption percentage was calculated using previously validated formula. If more than 60% it was suggestive of pseudo-malabsorption. They were randomised by simple randomization to receive oral Levothyroxine of a same standard brand either weekly once under direct supervision with a dose equal to the cumulative dose with a maximum of 14 mcg/kg (weekly dose group) or to continue to receive the same daily dose prior to randomization (daily dose group). Both groups received healthcare advice on adherence, adequate spacing and storage. Thyroid function tests were repeated at 8 weeks and at 12 weeks if not controlled at 8 weeks.

Results: After randomization of 70 subjects selected after levothyroxine absorption, 40 were in the weekly once group and 30 were in the daily once group. 38 subjects in the weekly once group (95%) had controlled TFT levels by 12 weeks with 32 (80%) among them under control by 8 weeks whereas 18 subjects in the daily once group (60%) had controlled TFT levels by 12 weeks and had a statistically significant difference between the two groups (p value = 0.0005). There were no significant differences in the adverse events. 4 subjects in the weekly once group (10%) and 2 subjects in the daily once group had headache. 2 subjects in the weekly once group withdrew from the study due to headache.

Conclusion: The weekly once dosage can be considered as a safe and effective option for every subject with refractory primary hypothyroidism when pseudo-malabsorption is suspected.
Abstract 182
Authors: Sumana Ediga Kornapalli , Nevin S , Srujana T , Kumar Ega Lakshman , Kalam Sumayya Abdul , Reddy C Sindhuja , Lekshmi S , Kiran Bangaru Sai , Neelaveni K , Sahay Rakesh Kumar
Published: February 2023

Background: Lipodystrophy constitutes a spectrum of diseases characterized by generalized or partial absence of adipose tissue. Underscoring the role of healthy fat in maintenance of metabolic homeostasis, fat deficiency in lipodystrophy typically leads to metabolic disturbances including insulin resistance, hypertriglyceridemia and ectopic fat accumulation. While rare recent genetic studies indicate that lipodystrophy is more prevalent than has been previously thought, suggesting underdiagnosis in clinical practice.

Aims and Objectives: The present case series highlights the spectrum of lipodystrophy syndromes, clinical profile and complications.

Case Details

On evaluation of C1 & C2 a clinical diagnosis of Familial Partial lipodystrophy was made. Investigations revealed Prediabetes and Hypertriglyceridemia.

C3 & C4 were clinically diagnosed as Congenital Generalized Lipodystrophy. Investigations revealed T2DM, PCOS, Hypertriglyceridemia which were appropriately managed.

Conclusion: The aetiology and clinical features of lipodystrophy are variable. Awareness and early recognition in these cases is necessary for optimal management of the patient.