Etiology and Biochemical Profile of Rickets in Tertiary Care Centres in Eastern India: A Retrospective Cross-sectional Study.

Introduction: We aimed to describe the clinical, biochemical and etiological profile of patients referred with a provisional diagnosis of rickets in tertiary care centres. In addition, we tried to propose a diagnostic algorithm for the evaluation of such patients. Methods: This was a retrospective cross-sectional study conducted in two tertiary care centres of West Bengal. Data of patients were retrieved between 2014 and 2021. Results: Out of 101 children, 22 had conditions simulating rickets. Renal tubular acidosis (RTA) was the most common (53.2%) etiology of rickets, followed by phosphopenic rickets (PR) (22.8%) and calcipenic rickets (CR) (17.7%). The prevalence of true nutritional rickets (NR) was only 8.9%. Children with RTA had a significantly higher prevalence of chronic ill health (69%) and polyuria (95.2%). Weight standard deviation score (SDS) and body mass index (BMI) SDS scores were significantly lower in the RTA group compared to others. Around 90.5% of children with RTA, and none in the other groups, had hypokalemia. Biochemically, hypophosphatemia and elevated alkaline phosphatase (ALP) were present in all patients with PR and CR. Compared to CR, median serum phosphate was significantly lower in the PR group. A significant difference in ALP values was noticed in patients with hypophosphatemia (815 ± 627 IU/L) compared to those without (279 ± 204 IU/L). Plasma parathyroid hormone (PTH) of 100 pg/ml seemed useful to differentiate CR from other forms. Conclusion: NR is uncommon in tertiary care centres. Children with rickets should be approached systematically with the estimation of ALP, phosphorus, creatinine, calcium, PTH and 25-hydroxy vitamin D to reach an etiological diagnosis.

Metabolic and other morbid complications in congenital generalized lipodystrophy type 4.

Morbidity and mortality rates in patients with autosomal recessive, congenital generalized lipodystrophy type 4 (CGL4), an ultra-rare disorder, remain unclear. We report on 30 females and 16 males from 10 countries with biallelic null variants in CAVIN1 gene (mean age, 12 years; range, 2 months to 41 years). Hypertriglyceridemia was seen in 79% (34/43), hepatic steatosis in 82% (27/33) but diabetes mellitus in only 21% (8/44). Myopathy with elevated serum creatine kinase levels (346-3325 IU/L) affected all of them (38/38). 39% had scoliosis (10/26) and 57% had atlantoaxial instability (8/14). Cardiac arrhythmias were detected in 57% (20/35) and 46% had ventricular tachycardia (16/35). Congenital pyloric stenosis was diagnosed in 39% (18/46), 9 had esophageal dysmotility and 19 had intestinal dysmotility. Four patients suffered from intestinal perforations. Seven patients died at mean age of 17 years (range: 2 months to 39 years). The cause of death in four patients was cardiac arrhythmia and sudden death, while others died of prematurity, gastrointestinal perforation, and infected foot ulcers leading to sepsis. Our study highlights high prevalence of myopathy, metabolic abnormalities, cardiac, and gastrointestinal problems in patients with CGL4. CGL4 patients are at high risk of early death mainly caused by cardiac arrhythmias.

Analysis of Drying Front Propagation and Coupled Heat and Mass Transfer During Evaporation From Additively Manufactured Porous Structures Under a Solar Flux.

Drying front propagation and coupled heat and mass transfer analysis from porous media is critical for soil-water dynamics, electronics cooling, and evaporative drying. In this study, de-ionized water was evaporated from three 3D printed porous structures (with 0.41 mm, 0.41 mm, and 0.16 mm effective radii, respectively) created out of acrylonitrile butadiene styrene (ABS) plastic using stereolithography technology. The structures were immersed in water until all the pores were invaded and then placed on the top of a sensitive scale to record evaporative mass loss. A 1000 W/m2 heat flux was applied with a solar simulator to the top of each structure to accelerate evaporation. The evaporative mass losses were recorded at 15 min time intervals and plotted against time to compare evaporation rates from the three structures. The evaporation phenomena were captured with a high-speed camera from the side of the structures to observe the drying front propagation during evaporation, and a high-resolution thermal camera was used to capture images to visualize the thermal gradients during evaporation. The 3D-structure with the smallest effective pore radius (i.e., 0.16 mm) experienced the sharpest decrease in the mass loss as the water evaporated from 0.8 g to 0.1 g within 180 min. The designed pore structures influenced hydraulic linkages, and therefore, evaporation processes. A coupled heat-and-mass-transfer model modeled constant rate evaporation, and the falling rate period was modeled through the normalized evaporation rate.

Experimental evidence that network topology can accelerate the spread of beneficial mutations.

Whether and how the spatial arrangement of a population influences adaptive evolution has puzzled evolutionary biologists. Theoretical models make conflicting predictions about the probability that a beneficial mutation will become fixed in a population for certain topologies like stars, in which "leaf" populations are connected through a central "hub." To date, these predictions have not been evaluated under realistic experimental conditions. Here, we test the prediction that topology can change the dynamics of fixation both in vitro and in silico by tracking the frequency of a beneficial mutant under positive selection as it spreads through networks of different topologies. Our results provide empirical support that meta-population topology can increase the likelihood that a beneficial mutation spreads, broaden the conditions under which this phenomenon is thought to occur, and points the way toward using network topology to amplify the effects of weakly favored mutations under directed evolution in industrial applications.

Marked increase in bone mineral density with oral phosphate and calcitriol in tumour-induced osteomalacia.

Patients with osteomalacia have a low bone mineral density (BMD) and are often misdiagnosed as osteoporosis. A marked increase in BMD is noticed following successful treatment of osteomalacia. The biochemical hallmark of tumour-induced osteomalacia (TIO) is hypophosphatemia. Patients with TIO often have severe hypophosphatemic osteomalacia and dual-energy X-ray absorptiometry may demonstrate low BMD. Surgical removal of the phosphatonin-secreting lesion restores serum phosphate, corrects osteomalacia and is associated with a dramatic increase in BMD. We report two patients with TIO and low BMD, who were treated with oral phosphate and calcitriol supplementation. The percentage increase in BMD at 33 months was as high as 94.3% in areas with the lowest BMD at baseline. The BMD at 33 months was higher than the +2SD of the population-specific reference ranges, a finding not reported in surgically treated patients with TIO. An intermittent rise in parathyroid hormone following oral phosphate supplementation might have resulted in such findings.

Integrated Care for Type 1 Diabetes: The West Bengal Model.

Introduction: A structured dedicated health programme for Type 1 diabetes mellitus (T1DM) has been initiated in the state of West Bengal, India. Aim: The aim is to provide comprehensive healthcare to all children, adolescents and young adults living with T1DM, along with the provision of free supply of insulin, glucose measuring devices, blood glucose test strips, and other logistics. The strategic framework for programme implementation is to utilise the infrastructure and manpower of the already existing non-communicable disease (NCD) clinic under National Health Mission. Methodology: Establishing dedicated T1DM clinics in each district hospital by utilising existing healthcare delivery systems, intensive training and hand-holding of named human resources; providing comprehensive healthcare service and structured diabetes education to all T1DM patients; and building an electronic registry of patients are important components of the programme. T1DM clinics run once a week on the same day throughout the state. All T1DM patients are treated with the correct dose of insulin, both human regular insulin and glargine insulin. Patients are routinely monitored monthly to ensure good glycaemic control and prevent complications of the disease. Routine anthropometric examination and required laboratory investigations are conducted in the set-up of the already existing NCD clinic. Ongoing monitoring and evaluation of the T1DM programme are being conducted in terms of glycated haemoglobin (HbA1c) values, growth and development, complication rates, psychological well-being, quality of life, and direct and indirect expenditure incurred by families. Through this programme, any bottlenecks or gaps in service delivery will be identified and corrective measures will be adopted to ensure better health outcomes for those living with T1DM.

Non-pharmacologic approaches to treatment of pediatric functional abdominal pain disorders.

Functional abdominal pain disorders (FAPDs) affect up to 25% of children in the United States. These disorders are more recently known as disorders of "brain-gut" interaction. The diagnosis is based on the ROME IV criteria, and requires the absence of an organic condition to explain the symptoms. Although these disorders are not completely understood, several factors have been involved in the pathophysiology including disordered gut motility, visceral hypersensitivity, allergies, anxiety/stress, gastrointestinal infection/inflammation, as well dysbiosis of the gut microbiome. The pharmacologic and non-pharmacologic treatments for FAPDs are directed to modifying these pathophysiologic mechanisms. This review aims to summarize the non-pharmacologic interventions used in the treatment of FAPDs including dietary modifications, manipulation of the gut microbiome (neutraceuticals, prebiotics, probiotics, synbiotics and fecal microbiota transplant) and psychological interventions that addresses the "brain" component of the brain-gut axis (cognitive behavioral therapy, hypnotherapy, breathing and relaxation techniques). In a survey conducted at a large academic pediatric gastroenterology center, 96% of patients with functional pain disorders reported using at least 1 complementary and alternative medicine treatment to ameliorate symptoms. The paucity of data supporting most of the therapies discussed in this review underscores the need for large randomized controlled trials to assess their efficacy and superiority compared to other treatments.

Rickets in proximal renal tubular acidosis: a case series of six distinct etiologies.

OBJECTIVES: Proximal renal tubular acidosis (pRTA) is characterized by a defect in the ability of the proximal convoluted tubule to reabsorb bicarbonate. The biochemical hallmark of pRTA is hyperchloremic metabolic acidosis with a normal anion gap, accompanied by appropriate acidification of the urine (simultaneous urine pH <5.3). Isolated defects in bicarbonate transport are rare, and pRTA is more often associated with Fanconi syndrome (FS), which is characterized by urinary loss of phosphate, uric acid, glucose, amino acids, low-molecular-weight proteins, and bicarbonate. Children with pRTA may present with rickets, but pRTA is often overlooked as an underlying cause of this condition. CASE PRESENTATION: We report six children with rickets and short stature due to pRTA. One case was idiopathic, while the remaining five had a specific underlying condition: Fanconi-Bickel syndrome, Dent's disease, nephropathic cystinosis, type 1 tyrosinemia, and sodium-bicarbonate cotransporter 1-A (NBC1-A) defect. CONCLUSIONS: Five of these six children had features of FS, while the one with NBC1-A defect had isolated pRTA.

Effect of morning versus night-time administration of proton pump inhibitor (pantoprazole) on thyroid function test in levothyroxine-treated primary hypothyroidism: a prospective cross-over study.

BACKGROUND: One of the common causes of suboptimal control of thyroid stimulating hormone (TSH) in levothyroxine-treated hypothyroidism is coadministration of proton pump inhibitors (PPIs). Morning administration of pantoprazole has been shown to suppress intragastric pH to a greater extent. We therefore aimed to determine the effect of pantoprazole at different time points of the day on thyroid function test (TFT) in levothyroxine-treated overt primary hypothyroidism. METHODS: In this single centre, hospital based, prospective, two arm cross-over study (AB, BA), participants were randomized into 2 groups based on morning (6:00 am - 7:00 am simultaneously with the scheduled levothyroxine tablet) (group M) and evening (30 min before dinner) intake of 40 mg pantoprazole tablet (group N). After the initial 6 weeks (period 1), a washout period of 1 week for pantoprazole was given, and then both the groups crossed over for another 6 weeks (period 2). Patients were instructed to continue the same brand of levothyroxine tablet at empty stomach 1-hour before breakfast. Serum TSH was measured at baseline, week 6, and week 13. RESULTS: Data from 30 patients, who completed the study with 100% compliance, were analysed. Mean TSH values of the study participants were significantly higher both at week 6 and week 13 compared to the baseline. Mean baseline serum TSH concentrations for groups M and N were 2.70 (± 1.36), and 2.20 (± 1.06) µlU/mL, respectively. Mean serum TSH concentrations at the end periods 1 and 2 for group M were 3.78 (± 4.29), and 3.76 (± 2.77) while the levels in group N were 3.30 (± 1.90), and 4.53 (± 4.590) µlU/mL, respectively. There was a significant rise in serum TSH concentration across periods 1 and 2 in both the groups (F2, 58 = 3.87, p = 0.03). Within group changes in TSH across periods 1 and 2 were not statistically significant. Similarly difference in TSH between the groups, either at 6 weeks or at 13 weeks, were also not statistically significant. CONCLUSIONS: Concomitant use of pantoprazole, even for 6 weeks, leads to significant elevation in serum TSH in levothyroxine-treated patients who are biochemically euthyroid, irrespective of timing of pantoprazole intake. Early morning and night-time administration of pantoprazole have similar effect on TFT in these patients.

The Use of Preputial Dartos Flap in the Primary Repair of Distal Hypospadias: A Single-centre Experience.

Background: An additional flap during the tubularization of incised urethral plate urethroplasty (TIPU) is believed to minimize the postoperative complications. It is still debatable whether using an additional flap is worth the risk given the hazards associated with doing so. This study aims to re-evaluate the benefits and drawbacks of TIPU with or without a preputial dartos (PD) flap. Materials and Methods: We assessed the results of patients with distal hypospadias who underwent surgery in our institute over the past 2 years. The urethral plate's width, thickness, and depth, the periurethral tissue's quality, and the width of the glans at the mid-glans level determined whether the neourethra was covered with a PD flap or left uncovered. Data on intra-operative blood loss, operating time, length of hospital stay, postoperative complications, and outcome were analysed. Results: There were 96 patients: 58 received an extra PD flap, whereas the other 38 did not. In the flap group, ventral skin necrosis was a prevalent problem, whereas meatal stenosis predominated in the no-flap group. Both the flap group (25.66%) and the no-flap group (23.86%) experienced comparable postoperative complications (P = 0.503). In comparison to the no-flap group, the flap group showed statistically significant differences (P<0.001) in intra-operative blood loss (22.10 ± 6.96 vs. 10.34 ± 3.02 mL), operating time (96.34 ± 6.661 vs. 71.39 ± 9.76 min), and hospital stay (10.04 ± 0.87 vs. 8.47 ± 1.64 days). Conclusion: The additional PD flap does not always affect the result of TIPU in terms of complications.

Diagnostic approach in 46, XY DSD: an endocrine society of bengal (ESB) consensus statement.

OBJECTIVES: 46, XY difference/disorder of sex development (DSD) is a relatively uncommon group of heterogeneous disorders with varying degree of underandrogenization of male genitalia. Such patients should be approached systematically to reach an aetiological diagnosis. However, we lack, at present, a clinical practice guideline on diagnostic approach in 46, XY DSD from this part of the globe. Moreover, debate persists regarding the timing and cut-offs of different hormonal tests, performed in these cases. The consensus committee consisting of 34 highly experienced endocrinologists with interest and experience in managing DSD discussed and drafted a consensus statement on the diagnostic approach to 46, XY DSD focussing on relevant history, clinical examination, biochemical evaluation, imaging and genetic analysis. CONTENT: The consensus was guided by systematic reviews of existing literature followed by discussion. An initial draft was prepared and distributed among the members. The members provided their scientific inputs, and all the relevant suggestions were incorporated. The final draft was approved by the committee members. SUMMARY: The diagnostic approach in 46, XY DSD should be multidisciplinary although coordinated by an experienced endocrinologist. We recommend formal Karyotyping, even if Y chromosome material has been detected by other methods. Meticulous history taking and thorough head-to-toe examination should initially be performed with focus on external genitalia, including location of gonads. Decision regarding hormonal and other biochemical investigations should be made according to the age and interpreted according to age-appropriate norms Although LC-MS/MS is the preferred mode of steroid hormone measurements, immunoassays, which are widely available and less expensive, are acceptable alternatives. All patients with 46, XY DSD should undergo abdominopelvic ultrasonography by a trained radiologist. MRI of the abdomen and/or laparoscopy may be used to demonstrate the Mullerian structure and/or to localize the gonads. Genetic studies, which include copy number variation (CNV) or molecular testing of a candidate gene or next generation sequencing then should be ordered in a stepwise manner depending on the clinical, biochemical, hormonal, and radiological findings. OUTLOOK: The members of the committee believe that patients with 46, XY DSD need to be approached systematically. The proposed diagnostic algorithm, provided in the consensus statement, is cost effective and when supplemented with appropriate genetic studies, may help to reach an aetiological diagnosis in majority of such cases.

Hypoplastic amelogenesis imperfecta, bilateral nephrolithiasis and FGF-23-mediated hypophosphataemia: a triad of FAM20A-related enamel renal syndrome.

Enamel renal syndrome (ERS) due to loss of function (LOF) mutation of FAM20A gene typically consists of hypoplastic amelogenesis imperfecta (AI) and bilateral nephrolithiasis/nephrocalcinosis. Recent evidence suggests that FAM20A interacts with FAM20C and increases its activity; thus LOF mutation of FAM20A leads to impaired FAM20C action. FAM20C, a golgi casein kinase, phosphorylates fibroblast growth factor (FGF)-23, prevents its glycosylation and makes it more susceptible to degradation by furine proteases. Consequently, inactivating mutations of FAM20C lead to increased concentration of bioactive and intact FGF-23 in circulation and resultant hypophosphataemia. LOF mutation of FAM20A, thus, might also be associated with FGF-23-mediated hypophosphataemia; however, such an association has never been reported in the literature. We describe, for the first time, a triad of AI, bilateral nephrolithiasis and FGF-23-mediated hypophosphataemia in LOF mutation of FAM20A. We suggest that serum phosphate should be measured in all patients with ERS to avoid metabolic and skeletal complications of undiagnosed, hence untreated hypophosphataemia.

Esophageal Atresia and Tracheoesophageal Fistula: A Retrospective Review from a Tertiary Care Institute.

Background: A survey of neonates with esophageal atresia and tracheoesophageal fistula (EA ± TEF) to determine additional factors responsible for poor surgical outcomes in our institution where employing an improved standard of care can ameliorate the outcome. Materials and Methods: We carried out a retrospective review of 54 neonates, who underwent surgical repair of EA± TEF over a 5-year period. We collected data regarding the patients' demographics, perioperative findings, records of neonatal intensive care, and ascertained the effects of gender, gestational age, birth weight, age at operation, type of anomaly, coexisting major anomalies, preoperative inotrope therapy, and duration of postoperative ventilation on the surgical outcome. Results: The mortality rate was 51.9%, out of which, 42.8% of neonates succumbed to ventilator-associated conditions. Age at the time of surgery, gestational age, preoperative inotrope support, presence of coexisting anomalies, and duration of postoperative ventilation were determined as the significant variables predicting mortality(P < 0.05). The area under the Receiver Operating Curve showed the duration of postoperative ventilation as the best indicator of mortality. The Logistic regression model (χ2 = 11.204, P = 0.019) with the above-mentioned variables showed that neonates who were operated before 2.5 days and who required <74.5 hours of postoperative ventilation were 3.91 and 48.30 times more likely to survive respectively, than their counterparts. Conclusion: A delay in surgery due to delayed diagnosis and or delayed transportation to tertiary centres and prolonged ventilatory support have an additional detrimental effect on the surgical outcomes of EA ± TEF.

Histopathological Evidence of Thyroid Dermopathy and its Correlation with Thyroid-Associated Orbitopathy in Patients with Graves' Disease having Normally Appearing Pretibial Skin: A Case-Control Study.

Objective: Thyroid dermopathy (TD), reportedly encountered in less than 5% of patients with Graves' disease (GD), is supposed to coexist only with thyroid-associated orbitopathy (TAO). However, clinically inapparent TD, detected non-invasively by thermal imaging or ultrasonography, seems to be present in a larger proportion of GD. Histopathological examination (HPE), though considered as gold standard for detecting TD, has not been performed widely to identify subclinical TD in GD. Materials and Methods: In this single-centre, cross-sectional, case-control study, 50 patients with GD (cases) and normal appearing pretibial skin were compared with 45 age- and sex-matched individuals (39 healthy volunteers, 3 with toxic multinodular goitre and 3 with solitary toxic nodule) (control). All patients were evaluated clinically for presence of TAO. Punch biopsy specimens were obtained from the pretibial skin in all 95 participants. Tissue sections were examined under light microscopy for mucin deposition, splitting of collagen fibrils and perivascular lymphocytic infiltration. Results: Sixty per cent of patients with GD demonstrated at least one of the above three histological features, while 52% had any combination of two features and 46% harboured all the three features. Mucin deposition, splitting of collagen fibrils and lymphocytic infiltration were found overall in 52%, 54% and 52% of GD, respectively; 4.4-11.1% of controls also had some evidence of TD on HPE. Subclinical TD was not related to age, duration of disease and TAO in our study. Conclusions: TD, particularly in its subclinical form, Seems to be widely prevalent in GD (46-60%) and exists even in absence of TAO. HPE, though more sensitive than the various non-invasive tests, is not specific (ranges from 89% to 95%) for TD. However, HPE can accurately diagnose TD in appropriate clinical background.

Physician and Parent Perceptions on Plant-Based Beverages as Substitutes for Cow's Milk: A Single City Survey.

This study assessed physician and parent perceptions regarding plant-based beverage consumption in children. We surveyed 128 physicians and 215 parents of patients at University of Miami and Jackson Memorial Hospital. Among physicians, 52% recommended plant-based beverages, typically soy (33%), for cow's milk allergy (32%). Only 40% of physicians knew the typical protein content of plant-based beverages compared to cow's milk. Most physicians (54%) did not discuss potential health risks of plant-based beverages with patients. Among parents, 48% had children <2 years old, and 22% purchased a plant-based beverage, most commonly almond beverage (39%), due to perceived health benefits (54%). In total, 85% of parents believed that plant-based beverages are nutritionally superior or equivalent to cow's milk. Most parents (52%) depended on physicians for information on plant-based beverages. Overall, less than one third of physicians and parents believed that plant-based beverages should be called milk. There is a lack of knowledge among physicians and parents regarding plant-based beverage use as a dairy substitute in children. Despite parents relying on physicians for health information, physicians are not routinely counseling parents. Removing the label "milk" from plant-based beverages may improve consumer awareness of their nutritional differences and circumvent potential associated health risks in children.

Secondary distal renal tubular acidosis and sclerotic metabolic bone disease in seronegative spondyloarthropathy.

Adults with distal renal tubular acidosis (dRTA) commonly present with hypokalaemia (with/without paralysis), nephrolithiasis/nephrocalcinosis and vague musculoskeletal symptoms. All adults with dRTA should be thoroughly evaluated for systemic diseases, certain medications and toxins. The leading cause of acquired or secondary dRTA in adults is primary Sjögren syndrome (SS); however, other collagen vascular diseases (CVDs) including seronegative spondyloarthropathy (SSpA) may at times give rise to secondary dRTA. Metabolic bone disease is often encountered in adults with dRTA, and the list includes osteomalacia and secondary osteoporosis; sclerotic metabolic bone disease is an extremely rare manifestation of dRTA. Coexistence of dRTA and sclerotic bone disease is seen in primary dRTA due to mutation in CA2 gene and acquired dRTA secondary to systemic fluorosis. Primary SS and SSpA, rarely if ever, may also lead to both secondary dRTA and osteosclerosis. Circulating autoantibodies against carbonic anhydrase II and possibly calcium sensing receptor may explain both these features in patients with CVD.

Machine Learning Technology-Based Heart Disease Detection Models.

At present, a multifaceted clinical disease known as heart failure disease can affect a greater number of people in the world. In the early stages, to evaluate and diagnose the disease of heart failure, cardiac centers and hospitals are heavily based on ECG. The ECG can be considered as a regular tool. Heart disease early detection is a critical concern in healthcare services (HCS). This paper presents the different machine learning technologies based on heart disease detection brief analysis. Firstly, Naïve Bayes with a weighted approach is used for predicting heart disease. The second one, according to the features of frequency domain, time domain, and information theory, is automatic and analyze ischemic heart disease localization/detection. Two classifiers such as support vector machine (SVM) with XGBoost with the best performance are selected for the classification in this method. The third one is the heart failure automatic identification method by using an improved SVM based on the duality optimization scheme also analyzed. Finally, for a clinical decision support system (CDSS), an effective heart disease prediction model (HDPM) is used, which includes density-based spatial clustering of applications with noise (DBSCAN) for outlier detection and elimination, a hybrid synthetic minority over-sampling technique-edited nearest neighbor (SMOTE-ENN) for balancing the training data distribution, and XGBoost for heart disease prediction. Machine learning can be applied in the medical industry for disease diagnosis, detection, and prediction. The major purpose of this paper is to give clinicians a tool to help them diagnose heart problems early on. As a result, it will be easier to treat patients effectively and avoid serious repercussions. This study uses XGBoost to test alternative decision tree classification algorithms in the hopes of improving the accuracy of heart disease diagnosis. In terms of precision, accuracy, f1-measure, and recall as performance parameters above mentioned, four types of machine learning (ML) models are compared.

Desmopressin treatment in dipsogenic form of primary polydipsia: keep serum osmolality marginally below thirst threshold for symptomatic relief.

Dipsogenic polydipsia (DP), a distinct variety of primary polydipsia, is characterised by selective diminution of osmotic threshold for thirst leading to polydipsia and subsequent hypotonic polyuria. Seen in patients without underlying psychiatric illness, DP closely mimics central diabetes insipidus (CDI), making it difficult for clinicians to discriminate these two conditions from each other. Carefully performed osmotic stimulation study, incorporating objective assessment of threshold for thirst and arginine vasopressin (AVP) release is the key to differentiate DP from CDI or psychogenic polydipsia, also termed compulsive water drinking (CWD). Low thirst threshold and high AVP release threshold separate DP from CDI and CWD, respectively. Unlike CWD, desmopressin may be successfully used in DP without concomitant risk of hyponatremia. We describe a child, in whom an initial diagnosis of partial CDI was subsequently revised to DP based on osmotic stimulation test. The child was treated successfully with desmopressin therapy with a target to keep serum osmolality close to thirst threshold.