bluuebunny/crossref_metadata_2025 huggingface dataset:
Abstract 164
Authors: Jaithal Monika
Published: February 2023

Background: Diabetes mellitus is a chronic metabolic disorder that is characterized by hyperglycemia which affects almost all systems of body. Incidence of cognitive impairment (CI) is higher in patients with diabetes mellitus compared to general population. There are many tests available for screening of CI. Most of these tests are time consuming, but minicog is simple screening test and takes only three minutes. We conducted this study to know the prevalence of CI by using minicog test.

Materials and Methods: We conducted cross-sectional study using a convenient sample of 100 diabetic patients enrolled in OPD. Socio-demographic diabetes-related variables including biochemical analysis were collected. Cognitive Impairment was assessed by using Mini-Cog Test.

Results: Out of 100 patients 66% were women and 34% were men and mean age was 49.46 ± 10.36. Mean BMI of respected cases was 27.32 ± 4.53 and mean HbA1C% was 9.39 ± 2.52. The overall prevalence of Cognitive Impairment in cross-sectionalstudy is 27%. More number (n = 22) of women had cognitive impairment as compared to men (n = 5).

Conclusion: Cognitive impairment is not uncommon in Diabetes Mellitus. Mini-Cog test is a brief, simple and less time-consuming screening tool and is immensely helpful for screening of Cognitive Impairment especially in OPD setting.
Abstract 165
Authors: Joshi Shashank , Jadhao Vibhuti , Kodgule Rahul , Tandon Monika , Suryawanshi Sachin , Barkate Hanmant
Published: February 2023

Background: Lobeglitazone is a novel thiazolidinedione class of drug, acts by activating PPARγ in type 2 diabetes (T2DM). Evidence regarding its efficacy and safety is not available in Indian T2DM patients.

Aims: To evaluate efficacy and safety of a novel thiazolidinedione, Lobeglitazone, in patients with T2DM uncontrolled on metformin.

Methods: This was a 16-week randomized, double blind, double dummy, active controlled study which primarily evaluated change in HbA1c from baseline in Lobeglitazone (0.5 mg OD) compared to Pioglitazone (15 mg OD). Secondary endpoints were change in fasting (FBS) and post-prandial blood sugar (PBS). 12-week analysis results are presented here.

Results: 317 patients were randomized to Lobeglitazone (N = 158) and Pioglitazone (N = 159) groups. HbA1c reduction from baseline to week 12 seen in Lobeglitazone group was 0.84% (baseline 8.6%) and in Pioglitazone group it was 0.74% (baseline 8.7%), p-value for non-inferiority being <0.0001. Secondary endpoints are mentioned in Table 1

Reduction values mentioned are least square mean values.

Conclusion: Lobeglitazone significantly improved the glycemic parameters and was well tolerated. Change in fasting insulin, HOMA-IR and HOMA-β in Lobeglitazone group was comparable to Pioglitazone. Lobeglitazone was found to be non-inferior to Pioglitazone in metformin uncontrolled T2DM patients.
Abstract 167
Authors: Chatterjee Tulika , Naveen R , Gracia-Ramos Abraham Edgar , Barman Bhupen , Sen Parikshit , Joshi Mrudula , Saha Sreoshy , Nune Arvind , Pande Arunkumar , Velikova Tsvetelina , Parodis Ioannis , Tan Ai Lyn , Shinjo Samuel Katsuyuki , Boro Hiya , Agarwal Vikas , Aggarwal Rohit , Gupta Latika
Published: February 2023

Background: COVID-19 vaccinations have been proven to be generally safe in healthy populations. However, the data on the vaccine safety in patients with Type 1 Diabetes Mellitus (T1DM) is inadequate. The study aimed to evaluate the frequency and severity of the adverse vaccination effects (ADEs) and their risk factors among T1DM patients.

Methods: This study analyzed data from the COVID-19 vaccination in Autoimmune Diseases (COVAD) survey database (May-Dec 2021; 110 collaborators, 94 countries), comparing COVID-19 vaccine adverse drug events among T1DM patients and healthy controls (HCs). The study was designed to assess post-COVID-19 vaccination ADE in patients with autoimmune diseases. Descriptive and comparative analysis was performed based on data distribution and variable types.

Results: We included 5480 completed responses in this study. Of all responses, 5408 were HCs, and 72 were T1DM patients (43 females, 48.0% Caucasians). The majority of the respondents had received Pfizer vaccines (p < 0.001). 4052/5480 (73.9%) respondents had received 2 vaccine doses, rest had received 1 vaccine dose. The most common ADE reported was injection site pain (50.0%), with T1DM patients reporting significantly lower frequency of injection site pain than HCs [OR 0.6 (0.3-0.9), p = 0.045]. Multivariate analysis showed that T1DM respondents had higher frequency of severe skin rashes [OR = 8.0 (1.7-36.0), p = 0.007] than HCs. However, overall ADEs, major ADEs, minor ADE and hospitalization frequency remained similar between T1DM and HCs.

Conclusions: COVID-19 vaccination was largely safe and well tolerated in patients with T1DM with similar ADE profile compared to HCs, except for increased frequency of skin rashes in them.
Abstract 168
Authors: John Anulekha Mary , Santhosh Shanty , Deepti G , Francis Anju K.
Published: February 2023

Background: Management of diabetes needs regular blood tests and insulin injections. Various kinds of medical instruments like insulin pens, needles, syringes, lancets etc. are used as part of self-care. While sharp disposal is strictly regulated in most hospital settings, this is not the case in community.

Objective: To assess the awareness and practices regarding the disposal of sharps among diabetic patients

Methods: Over 3-month period diabetic patients were interviewed regarding sharps disposal, using a structured questionnaire. Assuming 95%lack of awareness, 20% relative precision, 5% type 1 error, sample size calculated was 456. Descriptive statistics were used.

Results: There were a total of 479 patients, with 252 (52.61) women. There were 303 (63.25%) patients on insulin and 98 (32.34%) of them used pen devices. Mean age was 60.4 ± 11.5 and mean duration of diabetes was 13.5 ± 8.9 years. Mean HbA1c was 9.3 ± 2.1%. Most of our patients 437 (91.81%) were not aware of proper ways to dispose sharps. 359 (75.26) deposited in common household trash. 320 (66.81) eventually disposed in their backyard and 137 (29%) burned it.

Conclusions: Inappropriate disposal of sharps pose risk not only to scavengers but also to our environment. It is necessary to educate our patients regarding sharps disposal. Policy makers should be made aware in order to establish facilities for proper disposal of such hazardous sharps in the community and implement the same.
Abstract 169
Authors: Chethan Dev K
Published: February 2023

Introduction: There is always been a need for safe and effective adjuvant therapy in type 1 Diabetes not just for glycemic control but also for cardio-renal benefits.

Objectives: To evaluatewhether addition of DPP-4 inhibitors reduces the ketogenic potential of SGLT2i when used as an adjuvant therapy in type 1 Diabetes.

Materials and Methods: 20 type 1 Diabetes subjects above 18 years of age with poorly controlled glycemia (HbA1c 7 to 10%) were included in the study. At baseline along with physical examination, biochemical parameters- FPG, PPG, HBA1C, beta-hydroxybutyrate and fasting Glucagon were collected. This cohort was then treated with sitagliptin for 3 months, dapagliflozin for 3 months and combination of sitagliptin and dapagliflozin for 3-month adjuvant to insulin. At the end of each 3 months period anthropometric and biochemical parameters were assessed.

Results and Observation: The plasma Glucagon levels compared with the baseline (30.99 pg/ml), did not change with sitagliptin (29.89 pg/ml), increased significantly with dapagliflozin (55.89 pg/mL) [+24.9 pg/mL (p < 0.05)] and the combination treatment failed to reduce the Glucagon level 49.37 pg/ml. The median ketone (beta-hydroxybutyrate) levels compared to the baseline [0.11 (0.04 -0.87)] were numerically lower with sitagliptin [0.06 (0.02 - 0.33)] and higher with dapagliflozin [0.14 (0.04 - 1.16)]. However, the combination treatment failed to reduce the ketone levels [0.17 (0.02 - 0.92)]. There was a statistically significant improvement in glycemic parameter, HbA1c with each of the intervention. On comparing with the baseline the mean difference of HbA1c after sitagliptin was 1.39%, after dapagliflozin was 1.08% and after the combination treatment was 1.59%. This was achieved with no change in the insulin dose. There was a reduction in weight, BMI, SBP and DBP with individual as well as combination treatment. Change in waist circumference was minimal.

Conclusions: Sitagliptin and dapagliflozin either alone or in combination as adjuvant therapy in type 1 diabetes results in a significant improvement in glycaemia. Sitagliptin failed to reduce fasting plasma glucagon and blood ketone (beta-hydroxybutyrate) levels when added to dapagliflozin. It thus appears that the ketogenic potential of dapagliflozin cannot be brought down by addition of sitagliptin. Thus, DPP4 inhibitors and SGLT2 inhibitors can be a useful adjuvant in the therapy of type 1 DM, but SGLT2 inhibitors should be used only after understanding the potential risk for ketosis.
Abstract 17
Authors: Singh Jaspreet , Manglunia Ankit , Swain Jayshree
Published: February 2023

Background: Hypogonadism is a common finding in type 2 diabetes mellitus (T2DM) and is quite prevalent in the male patients. Thirty-three to fifty seven percent of T2DM men have low serum testosterone levels. When symptoms of hypogonadism are also taken into account, prevalence falls to 15- 20 percent. Insulin resistance is a major determinator of many macrovascular complications in diabetes.

Aim: This study was designed to see the relationship between hypogonadism and insulin resistance. Secondary aim was to look whether this relationship was independent of obesity, microvascular or macrovascular complications.

Methods: This cross-sectional study comprises of 353 diabetic men. Hypogonadism was defined as per the guidelines laid by the endocrine society. Insulin resistance was measured by HOMA IR.

Results: The study found a significant inverse correlation between hypogonadism and insulin resistance. On applying regression analysis, hypogonadism is associated with insulin resistance (odds ratio: 1.088, 95% CI = 1.037-1.141, p value = 0.001).

Conclusion: Insulin resistance is strongly associated with hypogonadism independent of obesity and complication status of diabetes. This association provide a possible path for intervention.
Abstract 172
Authors: Bishnoi Alka
Published: February 2023

Introduction: Dent’s disease is a rare X-linked renal tubulopathy characterized by low-molecular-weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and progressive renal failure. Common features are rickets or osteomalacia, growth retardation, and short stature. Short staturein children suffering from this diseasecould be multifactorial, including rickets, GH resistance, reduced GH secretion rate or functional IGF deficiency and increased IGFBP. To the best of our knowledge, this is only the fourth report on the use of growth hormone therapy in a child with poor growth associated with Dent’s disease. We report two siblings with Dent’s disease and growth failure who responded to growth hormone (GH) treatment.

Summary: Initially the elder sibling presented at the age of five yearsto pediatrics with proteinuria, calciuria, phosphaturia and growth failure and was treated with calcium, vitamin D and multivitamin supplementation and ACE inhibitor. During evaluation foretiology of renal wasting, genotyping revealed ahemizygous two base pair duplication in exon 6 of the CLCNS gene resulting in frame-shiftmutation. Laterthe younger sibling presented with similar features and hence he was also subjected to genotyping which revealed same mutation along with parents being carriers. Both were referred to us for short stature at a chronological age of 11 years (younger) and 15 years (older). Evaluation revealed GH deficiency (IGF 49.21 ng/ml range 37-459) in the younger brother but elder brother had normal GH-IGF axis along with features of Rickets and nephrocalcinosis in both brothers. Bone-age was delayed in both, 4.5 years and 11 years respectively. Literature search revealed three different cases of short stature where GH therapy had been tried with success. Hence GH therapy was started at the dose of 0.18 mcg/kg/week in both along with vitamin D, potassium, phosphorous supplements and thiazide diuretic. After 1 year of GH treatment, height increased from 113 cm (−4.1 S.D.) to 121.5 cm (− 3.5 S.D.) in younger one and 139 cm (-3.5 SD) to 148 cm (-2.7 SD) in the elder brother. IGF-1 levels increased in the younger one from 49.2 ng/ml (37-459) to 191 ng/ml. Bone age also increased from 4.5 years to 6.5 years in the younger one and from 11 years to 13 years in the elder sibling. Our preliminary findings showed beneficial effects of GH treatment on growth velocity of around 8 cm in younger sibling and 9 cm in elder sibling after one year.

GH treatment should be considered in children with Dent’s disease and short stature since positive effects on linear growth can be obtained.
Abstract 176
Authors: Menon Archana , Thomas Thusanth
Published: February 2023

Objective/Background: We describe an unusual case of relapsing autoimmune hypoglycaemia, associated with monoclonal gammopathy of Undetermined Significance precipitated by alpha lipoid acid, in a 66 -year-old non-diabetic lady who was not exposed to exogenous insulin before.

Method: 66-year-old lady non-diabetic who was not exposed to exogenous insulin before, started experiencing recurrent attacks of sweating, tiredness, uneasiness and increased hunger, while she was on a supplement which contained alpha-lipoic acid in 2016. She had taken it for few months after which her symptoms started. On investigation, she was found to have low glucose levels of 70 mg/dl. A 72-h fast test was normal, her serum insulin levels were found to be more than 1000 mU, and insulin autoantibodies were positive, at 27 KU/ml. Recently, she was on a medication containing alpha lipoic acid for a few weeks, after which she had relapse of symptoms. Her blood investigations this time showed sugars were as low as 41 mg/dl. Her serum insulin was >1000 mU/ml), The antibody titre was 81 KU/ml more than what was found 6 years back Both the times, she was investigated thoroughly with endoscopic ultrasound, CT abdomen, Exendin PET for structural lesions and it was negative.

Result: The exceedingly high insulin and insulin antibodies both the times and negative preliminary imaging studies led to the consideration of an immunological syndrome. Accordingly, a diagnosis of Relapsing Insulin Autoimmune Syndrome was made. In 2016, she was put on steroids for 2-3 weeks, which were tapered due to gastrointestinal problems. From then, she was managed with small frequent meals. She had symptoms persisting for about one and half years, after which she was asymptomatic for about 6 years. With relapse of symptoms recently, while she was on medication containing alpha lipoic acid which she was taking for few weeks, the patient was advised to take frequent, small meals. Inspite of that, she continued to have these symptoms. Finally, she was started on steroids 20 mg/day, thus achieving good control of her symptoms and she is having stable sugar levels for the past two weeks.

Conclusion: We present an unusual case where potentially life- threatening relapsing hypoglycaemia due to IAS associated with MGUS, precipitated by alpha lipoid acid was successfully managed with steroids and short frequent meals. We conclude that these treatment modalities effectively manage severe, refractory IAS.
Abstract 186
Authors: Supreeth C , Singh S K , Agrawal Neeraj Kumar , Kumar Ritesh , Kumar Subhash , Bishnoi Avina
Published: February 2023

Background: Neurofibromatosis is an autosomal dominant disorder with multisystem organ involvement which is manifested by various signs and symptoms and also which has propensity for tumour. Neurofibromatosis is Is diagnosed by clinical signs and family history which has multiple endocrine related abnormalities. There are few case reports around the world with unilateral and bilateral gynaecomastia mainly presenting during childhood, pathophysiology being pseudoangiomatous stromal hyperplasia(PASH) without endocrinopathy.

Case Summary: 6 year old boy presented to endocrine OPD with the complaints of non-progressive bilateral breast enlargement noticed by the care givers two years back , along with cafe au lait spots which was increasing in number and pigmentation. Father also had neurofibromatosis type-1. On examination found to have bilaterally symmetrical palpable glandular tissue 5 cm beneath nipple areola complex ,multiple café au lait spots >0.5 cm, >6 in number, axillary freckling, lisch nodules and bilateral gynaecomastia, no bony abnormalities, no pubarche, testicular volume of 2 ml bilaterally With normal stretched penile length for his age. On investigation ,ultrasound shows bilateral glandular tissue, Normal haemogram ,liver function test, and kidney function test, T3- 105 ng/dl, T4- 10.6 mcg/dl, TSH-3.2, LH-0.2, FSH-0.3, testosterone-4.31 ng/dl,prolactin-5.20 ng/ml, estradiol-4 pg/ml, hCG-<1.20 miu/ml , AFP -<1 miu/ml,bone age by TW method was 5.5 years.

Conclusion: neurofibromatosis type one with gynaecomastia is a rare complication and one has to remember that association with this disorder. It is usually not associated with any endocrinopathy. Surgical management of gynaecomastia in pre-pubertal stage is debatable.
Abstract 194
Authors: Mir Shahnaz Ahmad , Sharma Pooran , Shoaib
Published: February 2023

Introduction: It is well known that marked hypokalemia manifest as muscle weakness, but rhabdomyolysis is a rare presentation of hypokalemia.

Case Description: Here we report a case of primary hyperaldosteronism due to unilateral aldosterone producing adenoma in a 15yr old girl who developed rhabdomyolysis following hypokalemia. Aldosterone producing adenoma are rare in children with less than 20 cases reporting in literature. We present a 15year female who presenting with polyurea and proximal muscle weakness, investigation revealed hypokalemia, raised creatinine phosphokinase suggesting of hypokalemia induced rhabdomyolysis, further patient’s investigations showed raised aldosterone and suppressed renin and CT abdomen was suggesting of left adrenal adenoma which was removed laparoscopically.

Discussion: Potassium depletion from any cause may produce muscle weakness, but hypokalemic rhabdomyolysis is a rare presentation of hypokalemia. Rhabdomyolysis from any cause leads to increase in free ionized calcium in the sarcoplasm. This increased sarcoplasmic calcium initiates a series of complex intracellular processes leading to the clinical manifestation of rhabdomyolysis. On initial assessment our patients presented with rhabdomyolysis including weakness of lower limb, increased creatinine phosphokinase and mild tubulopathy including polyurea and hypokalemia. Tubulopathy might be secondary tom hypokalemia or rhabdomyolysis in our patient rhabdomyolysis may cause renal tubular damage and tubulopathy either by free radical mediated injury or directly by effect of lipid peroxidation on tubular cells. Chronic hypokalemia can also induce tubulointerstitial damage consisting of vacuolization of epithelial tubular cells and interstitial fibrosis; called as hypokalemic nephropathy, which is quite rare. Primary hyperaldosteronism due to an adrenal tumor is rare in childhood; however, it should be considered in the presence of hypokalemia in a hypertensive child with normal renal function, even if the clinical presentation is unusual, such as severe rhabdomyolysis, of which early recognition is crucial for interventions directed to preserve renal function.
Abstract 25
Authors: Jha Ankan Awadhesh Kumar
Published: February 2023

Objectives: To evaluate the presenting features, biochemical profile, and etiology of gynecomastia in patients presenting to a tertiary care centre.

Methods: The medical records of 293 patients presenting with gynaecomastia were evaluated. Patients with pseudogynaecomastia or inadequate data for analysis were excluded (n = 23). All patients underwent {CBC, LFT, and RFT}prior to FSH, LH, Testosterone, PRL, and TFT (CLIA). β-HCG, alpha-fetoprotein, DHEAS, and ultrasound testes were done as indicated.

Results: The median age at presentation was 19.0 years (range 10- 72 years). The median duration of symptoms at the time of presentation was 24 months. The most common symptoms at presentation were pain (57.4%), and aesthetic concerns (21%). Bilateral gynecomastia was seen in 71.33% of patients. Younger subjects (<18-30 years) predominantly sought medical attention. The majority of patients less than 18 years were diagnosed with pubertal gynecomastia. Two patients aged 17 and 27 were found to have Klinefelter’s syndrome on evaluation of gynecomastia. An etiology and age-based analysis showed that pharmaceutical drugs (31-40 years), anabolic steroids and chronic alcoholism (19-30 years) and primary gonadal failure (> 40 years) were common in the various age groups. No cause for the gynaecomastia was found in 44.3%, of the subjects (Idiopathic) Subjects in the idiopathic group were eugonadal. Tanner stage B2 was frequent in the Idiopathic and pubertal gynecomastia groups whereas it was B3 in pharmaceutical drugs and the Klinefelter’s syndrome groups. The most common drug implicated in our cohort was Anti-retroviral drugs followed by Spironolactone. A longer duration of symptoms was seen in patients of drug-induced gynecomastia (34.15 +-4.21 months, P < 0.0001) compared to the idiopathic group (27.03 +-3.17 months). Bilateral was more common than unilateral gynecomastia across all etiologies. When compared to the unilateral group, patients with bilateral gynecomastia had a longer duration of illness (p = 0.0164), higher BMI (p < 0.001), and low testosterone levels (p = 0.021).

Conclusions: Patients with gynecomastia presented more often with pain and aesthetic concerns. A careful evaluation of patients presenting peri-pubertally is warranted. An in-depthhistory of medical illness and medications and/or drug abuse is mandatory prior to proceeding with laboratory investigations. Follow up is mandatory in patients with gynaecomastia in whom no aetiology is discernible on first evaluation.
Abstract 26
Authors: Harvinder Kour , Singh Jaspreet
Published: February 2023

Background: Androgen Insensitivity Syndrome is characterized by phenotypes ranging from a normal female type of external genitalia to ambiguous genitalia. It is a rare X linked disorder of sexual development caused by different mutations in the androgen receptor gene leading to varied response to the circulating androgens. We describe a case of 18 years old female presenting with primary amenorrhea.

Case presentation: An eighteen years old female presented with primary amenorrhea. On examination, she has tanner B4 breast staging with scanty pubic and axillary hair. External genitalia revealed normal female appearance with short blind ended vagina. Imaging showed absent uterus and ovaries. She was suspected to have complete androgen insensitivity syndrome. The subsequent clinical, hormonal and radiological evaluation is presented here.

Conclusion: Complete androgen insensitivity syndrome should be suspected in primary amenorrhea patients presenting with normal secondary sexual characteristics and normal external genitalia. Its diagnosis and management require a multi-disciplinary team.
Abstract 34
Authors: Namburi Divyasri , Glady  , Varma  , Kunnuru Sumana , Anne Beatrice
Published: February 2023

Introduction: Pseudohypoparathyroidism (PHP) is a heterogeneous group of rare endocrine disorders characterized by normal renal function and resistance to the action of parathyroid hormone manifesting with hypocalcemia, hyperphosphatemia, and increased serum concentration of PTH. Albright’s hereditary osteodystrophy is unusual constellation of developmental and skeletal defects that include short stature, rounded face, shortened fourth metacarpals and other bones of the hands and feet, obesity, dental hypoplasia, soft-tissue calcifications/ossifications associated with pseudohypoparathyroidism.

Case Report: We report a twelve year five months old female presented with complaints of seizures, carpopedal spasms with positive Chvostek’s and Trousseau’s sign. On biochemical evaluation the cause for the seizures was discerned to be due to hypocalcaemia. She was treated with calcium supplements and referred to us for further evaluation. She was a product of non-consanguineous marriage with normal birth and developmental history except for childhood obesity. She has two healthy siblings. On physical examination height was 135 cm (Ht SDS -2.3) weight was 35 kg (between 10th-25th centile). She had a round face, crowded dentition, bilateral broad thumb, and brachymetatarsia of 4th, 5th toes. SMR showed B2, A-, P1. X ray of limbs revealed bilateral short 4th, 5th metacarpals and metatarsals, broad and short 1st metatarsals. Bone age was between 12 to 13 years. Her baseline endocrine and biochemical values showed in the table below. She was treated with calcium supplements and calcitriol. On follow up, serum calcium levels and urinary calcium/creatinine were monitored to achieve good calcemic levels. Genetic analysis (Whole exam sequencing) showed heterozygous GNAS mutation in Exon 8 suggestive of Pseudohypoparathyroidism 1a. We also evaluated the parents biochemical and hormonal profile and found that they had normal thyroid function tests, normal FSH and LH levels, PTH, calcium, phosphate levels. Genetic analysis of parents found to be normal.

Conclusion: This is a rare case presented with symptomatic hypocalcaemia, hyperphosphatemia with short fourth and fifth metatarsals, elevated PTH levels, hypothyroidism and radiological findings typical of AHO which is further confirmed by genetic analysis. This case thus presents as a rare case PHP 1a with AHO with multiple hormonal resistance with typical phenotypic expression.
Abstract 38
Authors: Sharma Dipti , Mathur Sandeep , Sharma Balram , Saran Sanjay
Published: February 2023

Introduction: OT-DSD is a rare subset of DSD with phenotypic variability characterized by the presence of both well-developed testis with seminiferous tubules and ovarian tissue with primordial follicles in the same individual which may coexist in the same gonad (ovotestis) or independently. It occurs between 3 and 10% of the total DSD.

Index Case: 5-year-old male child presented in Endocrinology OPD with penoscrotalhypospadiasis, absent testes in scrotal sac with presence of urethra at base of the phallus and ill formed scrotum. No history suggestive of salt wasting crisis or darkening of skin. Genital examination revealed a phallus-like structure measuring 4 cm, bifid scrotum with rugae, urethral opening at perineum, no vaginal opening, and no palpable gonads/ inguinal hernias/gynaecomastia, EMS: 5/12, BP: 110/80 mm Hg. Serum electrolyte were normal, Serum Cortisol: 10.4 mcg/dl, Serum LH and testosterone were prepubertal, 17 hydroxy progesterone: 5.14 ng/ml, Serum AMH: 1.14 ng/ml, Serum Estradiol – 38.7 pg/ml. Ultrasonography revealed a normal appearing uterus 22 x 8 cm, vagina with a blind distal end, bilateral testes like structure was noted in inguinal, bilateral corpora cavernosavisualised; bilateral streak ovaries noted confirmed by MRI whole abdomen pelvis. HCG stimulation test was done with serum testosterone increasing to 154 ng/dl suggestive of functional testicular tissue. Karyotype report revealing mosaic 46 X+mar [17] / 47 XY mar [17] / 45 XO / 46 XY with a positive fluorescence in situ hybridization (FISH) for sex-determining region Y (SRY). The patient underwent an exploratory laparoscopy and biopsy of gonadal tissue taken; report awaited at the time of submission of this case study.

Discussion: OT-DSD presents with great phenotypic variability, which influences decisions about gender assignment and counseling about genital and gonadal surgery. Decisions about gonadal surgery are driven primarily by concerns for gonadal malignancy. Conservative therapy, whenever feasible, is desirable because these individuals may maintain endocrine gonadal function and perhaps fertility.
Abstract 39
Authors: Chauhan Yash , Gada Jugal , Varthkavi Premlata , Bhagwat Nikhil
Published: February 2023

Background: In the urban setting, dinner is the main meal of the day and higher calories later at night may adversely affect glycemic control. We aimed to assess the effect of early dinner on glycemic control in habitual late eaters with uncontrolled T2DM in terms of fasting plasma glucose (FPG) levels and continuous glucose monitoring (CGMS) parameters.

Methods: Prospective interventional crossover study recruiting participants from a tertiary care center. We included adult patients with uncontrolled T2DM (HbA1c 7-9% and either FPG ³140 mg/dl or post-prandial glucose ³ 200 mg/dl) who habitually ate their last meal beyond 22:00 hrs, were on a stable lifestyle for the past 3 months and taking metformin and/or DPP4 inhibitors. Other anti-diabetic agents were excluded to avoid hypoglycemia. Late dinner (LD) and early dinner (ED) were defined as the last meal for the day beyond 22:00 hrs andbefore 20:00 hrs respectively. The patients ate LD for 4 days (Days 0-3) and ED for next 7 days (Days 4-10). Patients were admitted overnight for testing on days 0 (LD visit) and 10 (ED visit). Post-prandial (2 hrs post-dinner) and fasting (10 hrs post-dinner) samples were collected for glucose, insulin, lipid profile, hsCRP, IL-6 and malondialdehydelevels. A CGMS was applied for the entire duration and incremental area under curve (iAUC), average blood glucose (ABG) and glycemic variability were calculated. A labelled magnitude satiety scale (LMSS) was provided to document bedtime hunger.

Results: 10 patients (7 males, mean age 52.5 years) with T2DM (mean HbA1c 7.54%, mean time of usual dinner 22:33 hrs) were recruited. FPG (119.8 ± 7.3 mg/dl vs 105.2 ± 5.7 mg/dl, P = 0.015), fasting insulin (15.0 ± 4.3 mcIU/ml vs 9.7 ± 2.7 mcIU/ml, P < 0.002) and total cholesterol (162.8 ± 13.4 mg/dl vs 145.6 ± 13.1 mg/dl, P = 0.029) reduced significantly in ED than LD. Post-prandial glucose and insulin and othermarkers did not change significantly. Among CGMS, 10 hr post-dinner iAUC (22587.9 ± 5168.3 mg/dlxmin vs 15886.3 ± 4288.7 mg/dlxmin, P < 0.002) (Fig 1), 10 hrABG (137.5 ± 9.3 mg/dl vs 125 ± 7.9 mg/dl, P < 0.002), 24 hr ABG (132.2 ± 7.5 mg/dl vs 124.8 ± 5.4 mg/dl, P = 0.037) and night meanamplitude of glycemic excursion (83.7 ± 5.8 vs 69.3 ± 7.5, P = 0.027) significantly reduced in ED than LD. The patients ate LD at meantime of 22:28 hrs and ED at meantime of 19:29 hrs. The LMSS showed significantly increased bedtime hunger on days 4 and 5 which reduced to baseline by day 10.

Conclusion: This study shows that changing dinner timings without modification of other parametersimproves overall glycemic control, postprandial glycemic excursions, fasting glucose values, night time glycemic variability and insulin sensitivity in T2DM patients.
Abstract 42
Authors: Thomas Glady , Divyasri Namburi , Verma Padmanabha , Kunnuru Sumana , Anne Beatrice
Published: February 2023

Introduction: Dyggve-Melchior-Clausen syndrome (DMC) is a rare, progressive genetic disorder characterized by abnormal skeletal development, microcephaly and intellectual disability. It involves mutation of Dymeclin (DYM) gene on chromosome 18q12.1 that encodes for DYM protein which is expressed in cartilage, bone, and brain.

Case Discussion: Child aged 9 years with complains of failure to gain height-since infancy with intellectual disability. Child developed generalized joint pains since-4 years. Born as the first child to a second-degree consanguineous marriage. Oligohydramnios was diagnosed in second trimester and was delivered at 34 weeks by LSCS due to PPROM. Birth weight was 2 kg and APGAR was 9. Developmental milestones were delayed. Child has impaired speech and behavioral abnormalities like aggressive behavior, self harming tendencies, hyperactivity, poor attention span and temper tantrums. Younger sibling expired at the age of 3 months due to recurrent vomiting and seizures. Anthropometry showed height of117 cm (Ht SDS -2.09) and weight of 24 kg (25-50 percentile). US/LSratio-1.02, Arm span-119.5 cm, Head circumference-48.8 cm (-2SDS), Mid-parental height unable to assess as father is abroad. There was short forehead, flat occiput, large ears, poor dental hygiene, deformities of hands, widened wrists, short broad fingers, knock knees and widened ankle joint. Spinal examination showed kyphosis in upper back, exaggerated lordosis in lower back. Gait was of waddling nature.

Laboratory evaluation showed hemogram was within normal limits. Calcium-9.9 mg/dl. Phosphorus-4.9 mg/dl, Alkaline phosphatase-299 IU. Creatinine-0.34 mg/dl.TT3-1.70 ng/ml, TT4-4.7 m/dl, TSH-1.56 mIU/ml. VIT D—29.12 ng/ml, S.PTH—38.2 pg/ml. C spine Xray suggestive of atlantoaxial dislocation. Thoraco-lumbo-sacral spine showed decreased vertebral body height, central notching and beaking of superior and inferior end plates. Hand x ray showed small metacarpals and enlarged epiphysis of distal radius and ulna. Pelvic Xray showed bilateral small iliac wing, lacy appearance of iliac crests, multiple small translucent areas in pelvic rami, symmetric enlargement of femoral heads on lateral aspect and displaced laterally. Leg Xray showed enlarged medial epiphysis of distal femur, tibia and irregularities of metaphyses. Karyotyping-46XY. Genetic analyses revealed homozygous mutation of DYM gene on exon7 of chromosome 18–autosomal recessive suggestive of DYGGVE MELCHIOR CLAUSEN DISEASE. Mother had a pericentric inversion of chromosome 9.

Conclusion: This is a rare case of Dyggve Melchior-Clausen syndrome with typical features of skeletal dysplasias and intellectual disability. Patient is being planned for atlanto-axial stabilisation surgery. Genetic counselling given to parents.
Abstract 51
Authors: Yadav Borra Rajesh , Mounika Ch , Vivekananda Anitha B. , Jayanthy Ramesh , KAV Subrahmanyam , Sreenivasulu P.
Published: February 2023

Introduction: Primary adrenal insufficiency (PAI) is a life-threatening condition in children warranting a high index of suspicion. Although 21 hydroxylase deficiency accounts for the majority of PAI, many other inherited conditions have been reported presenting with a wide spectrum of presentations.

Materials and Methods: Seven patients of PAI presenting to the Department of Endocrinology during the last one year were evaluated and classifiedbased on clinical, biochemical, and mutational analysis.

Results: There was one male infant who presented with a bifid scrotum and perineal hypospadias due to 3β-Hydroxysteroid dehydrogenase 2 deficiency. Exome sequencing revealed a novel missense mutation in HSD3B2 gene, whose significance was strengthened in the context of a positive family history. Two infants (a male and a female) presented with salt losing crises at about nine months of age. Both had congruent phenotypic and genotypic features and extremely low levels of steroid metabolites alluding to a very proximal defect of steroidogenesis. Mutational analysis revealed homozygous missense variations in NNT gene leading to familial Glucocorticoid deficiency-4 requiring glucocorticoid as well as mineralocorticoid replacement. One child presented with crisis in the first week of life with undetectable steroid metabolites but was peculiar in that the karyotype was 47, XXY. Clinical exome sequencing revealed a missense mutation of the StAR gene. This case represents a complete sex reversal of a Klinefelter male due to Lipoid congenital adrenal hyperplasia. Another female child presented with asymptomatic hyperpigmentation at 18 months of age. She had undetectable steroid metabolites leading up to cortisol but normal aldosterone levels, explaining the absent salt wasting. Genetic analysis revealed homozygous missense variation in the MC2R gene causing familial glucocorticoid deficiency-1. One girl presented at 2 years of age with progressive clitoral enlargement and hypertension and was diagnosed with 11-beta- hydroxylase deficiency. Finally one boy presented at 6 years of age with neurodegeneration, blindness and hyperpigmentation. MRI brain suggested X linked adrenoleukodystrophy which was subsequently confirmed on next generation sequencing.

Discussion: The wide spectrum of PAI in these children in a relatively short period of time suggests that the frequency of the causes as the etiology of PAI may be much more and molecular diagnosis has important translational impact for prenatal testing, early diagnosis, optimal treatment for these children and their families.
Abstract 52
Authors: Mohanta Bibhutibhusan , Anbarasu K R , PreetiDabadghao  , Agarwal Gaurav , Pradhan Mandakini
Published: February 2023

Introduction: Pheochromocytoma in pregnancy is extremely rare. Early diagnosisand management can significantly alter maternal and fetaloutcome. However timely diagnosis can be challenging due to several close differential diagnosis. most common cause of hypertension

Case-1:24 yr female, presented to us at 24 wk of gestation for evaluation of hypertension. She complained of headache and excessive sweating. She was diagnosed to behypertensive in previous pregnancy, at 3months of gestation. Highest recorded BP-200/100mm Hg and IUD occurred at 9 months gestation. Onevaluation we found Urinary metanephrine-291 ug/24 hr, normetanephrine-9450 ug/24 hr (<600 mcg/24 hr). MRI abdomen showed-T2 hyperintense mass 3.4 x 2.2 cm in right adrenal and 6 x 5.7 cm mass in left adrenal. After optimisation of blood pressure and alpha blockade LSCS was done at 34 wk gestation. Post -LSCS, baby recovered with CPAP support after 2 days. Laproscopic right cortical preserving adrenalectomy and left total adrenalectomy was done after 8 wks postpartum. After 2 months of follow up, patientis now off anti-hypertensive.

Case-2: 28 yr female at 13 week of gestation presented for evaluation of HTN and left adrenalmass. She was Diagnosed hypertensive 8 yr back on regular medication. Usg showed-4 x 3.5 cm left suprarenal mass. Urinary metanephrine-139 ug/24 hr, normetanephrine-2361 ug/24 hr. MRI abdomen – 4 x 4.2 x 3.7 cm solid cystic lesion anterior superior upper pole of left kidney –pheochromocytoma. After adequate alpha blockade, left adrenalectomy was done at 19th wk gestation. Patient is now off antihypertensive 25th wk gestation.

Conclusion: During pregnancy, pre-treatment with alpha blockade is challenging due to risk of compromised uteroplacental circulation, laparoscopic surgery is the preferred approach for resection of the pheochromocytoma in pregnancy. When the diagnosis is made within the first 24 weeks of pregnancy, it is generally recommended to remove the tumor in the second trimester, while resection is generally postponed till after delivery when the diagnosis is made in the third trimester. The preferred route and timing of delivery, decisions should be made on an individual basis by an experienced and dedicated multidisciplinary team.
Abstract 56
Authors: Parekh Tapan D. , Chakraborty Partha Pratim , Bhattacharjee Rana , Sinha Anirban , Maiti Animesh
Published: February 2023

Introduction: Camurati-Engelmann disease (CED) also known as progressive diaphyseal dysplasia, is a rare autosomal dominant type of bone disease with variable penetrance. It belongs to the group of sclerosing bone dysplasia and is due to increased intramembranous bone formation.

Case Presentation: A 5 yr old boy presented with complain of recurrent fractures following trivial trauma since 9 months age. Most common site of fracture is left tibia and other fractures were also in lower limb. Patient also complains of progressive gait abnormality since age of 2.5 yrs. Patient was born out of nonconsanguineous union at term by normal vaginal delivery with unremarkable birth history. No history of similar complains in other family members. On examination, there is deformity of both lower limb (left > right). There is no blue sclera, hearing loss, spinal deformity, rachitic features or proximal myopathy.

Investigation: X ray (skeletal survey)- Bilateral and symmetrical cortical thickening of diaphysis of long bones. Epiphysis and metaphysis are spared. No osteosclerosis at skull base, mandible and axial skeleton. Relevant biochemical and hormonal investigations are normal.

Bone scintigraphy showing increased tracer uptake in shaft of both femur, tibia and proximal part of both forearm. Based on clinical and radiological finding diagnosis of CED is made (mutational analysis report is pending).

Discussion: CED is rare genetic disorder, most cases due to TGFβ1 gene mutation. The presenting symptoms include pain in extremities, waddling gait, muscle weakness and rarely hearing loss. The hallmark of the disorder is bilateral symmetrical cortical thickening of the diaphyses of the long bones with sparing epiphysis. Several reports have described successful treatment with short-term corticosteroids.
Abstract 59
Authors: Sruthi Navya , Mythili Mandapati , Anitha A. Mounika , Ch Vivekanand B , Sreenivasulu P
Published: February 2023

Background: Type 1 Diabetes mellitus (T1DM) is an autoimmune disease characterized by insulin deficiency and hyperglycemia. India has the highest number of prevalent T1DM of 2,29,400 and incident T1DM of 21,000 cases annuallybelow 20 years of age. This increased incidence in children and adolescents along with enhanced insulin access and better survival rates lead to higher prevalence in adults. There is a recent shift from a T1DM to a type 2 diabetes mellitus (T2DM) clinical profile with obesity and insulin resistance, termed double diabetes. This increases the risk of Metabolic Syndrome (MetS) in T1DM, more commonly in patients with family history of T2DM. It is associated with greater body mass index, greater insulin requirements and worse metabolic control. There is limited data on MetS in T1DM from developing countries and its association with vascular complications. This study looked into the clinical profile of complications and MetS in adults with T1DM at a tertiary centre in North Andhra Pradesh

Methods: This cross-sectional study included consecutive patients aged over 18 years and diagnosed as T1DM based on absence of beta cell reserve and requirement of insulin from diagnosis with at least 3 years duration, attending the Department of Endocrinology, King George Hospital, Visakhapatnam between July 2021 to June 2022. Data on clinical and biochemical characteristics as well as complications was collected. MetS was determined by modified NCEP-ATP III criteria

Results: The study included 53 adults with T1DM with a mean age of 25.6 ± 6.0 years and mean diabetes duration of 12.7 ± 5.7y. The mean BMI was 21.2 ± 3.8 kg/m2 and mean HbA1c was 9.7 ± 2.5%. 83% of patients had DKA and 54% had recurrent hypoglycemia. Microvascular complications like Neuropathy, Nephropathy and Retinopathy were observed in 51.2%, 29.2% and 19.5% of patients respectively. 2 patients developed Peripheral Arterial Disease, 1 had Stroke and none had coronary artery disease. Patients with longer duration of DM (>10 years) had higher rate of microvascular complications. Overall, 21% of adults with T1DM had MetS. Patients with MetS were older, had longer diabetes duration and higher BMI. Diabetic Neuropathy (82% vs 33%), Retinopathy (45% vs 7%) and Microalbuminuria (45% vs 12%) were higher in patients with MetS when compared to those without MetS

Conclusion: MetS is present in about a quarter of our T1DM patients, and had higher occurrence of retinopathy, neuropathy and nephropathy. As MetS is likely to increase the risk of atherosclerotic cardiovascular disease, the timely detection of MetS in T1DM has important preventive and therapeutic implications for cardiovascular disease.
Abstract 60
Authors: Inamadar Soumya S. , Sonwane Anand , Praveen N , Kumar S. , Dev Chethan , Meshram K. , Sethi Bipin Kumar
Published: February 2023

Background: The use of Sodium-Glucose Co-transporter 2 inhibitors (SGLT2i’s) has been robust from the time cardio-vascular outcome (CVOT) trials have established non-glycemic benefits of this class of medications. They are generally well tolerated with infrequent serious adverse events. The most frequent side effect is genital mycotic infections, others being urinary tract infection, postural hypotension and fatigue, constipation, angioedema and rarely increased amputation risk. We have comparatively fewer studies related to the safety profile of this class of drugs in Indian population. So, in this study we attempt to assess the safety profile of the SGLT2i’s in the diabetic cohort at our tertiary care center.

Methodology: This study was conducted at Care hospital, outpatient department. It was designed as a prospective observational study conducted over a duration of 3 months. Patients, aged 18 years and above with the diagnosis of type-2 diabetes were included in the study. Patientswere initiated on SGLT2i’s as an addition to the existing treatment or de-novo as combination therapy. Each patient was followed up for 3 months and ADRs (adverse drug reactions) reported were recorded. The ADRs were addressed by either treatment or withdrawal of the drug.

Results: A total of 751 patients were enrolled as per the calculated sample size. Around 90% (678) patients were initiated on tablet Dapagliflozin, 8% (61) on Empagliflozin, 1-2% each on Canagliflozin (4) and Remogliflozin (8). In the Dapagliflozin group, we observed genital mycosis in only 2% (14/678) patients, UTI in 2.5% (17/678) and frequent urination in 4.5% (31/678) patients. Events of other side effects like back pain, joint pains or nausea was also less common and that of ketoacidosis was nil. Similarly low incidence of side effects was seen with the other drugs.

Discussion: Most of the studies done in the western population quoted the incidence of genital mycosis ranging from 2-14%. In this study we noted a very less incidence of genital mycosis and other expected side effects of SGLT2i’s, most of which could be mitigated by proper counselling and treatment of the adverse effects. This suggests a better tolerability in Indian population and reassures the safety of this class of drugs.