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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.

Background: Interruptions in radiation treatment are known to have a deleterious effect on oncologic outcomes,specifically, an increase in tumor recurrence and decrease in cancer cure rate. Objectives: Our primary aim was to determine the factors influencing radiotherapy interruptions and provide solutions to decrease these dropouts. Materials and Methods: This was a retrospective observational study conducted between May 2009 and July 2010 at Mahatma Gandhi Cancer Hospital and Research Institute, a tertiary cancer center in Vishakhapatnam, Andhra Pradesh, India, on patients with histopathologically proven cancer, who were receiving radiation, either as definitive concurrent chemoradiation or in the adjuvant or palliative setting. Before the start and during treatment, patients were counseled by radiation oncologists, radiation coordinators, and radiation therapy technologists. During radiotherapy, an interruption of more than five consecutive days was considered a treatment interruption. Following a treatment interruption, patients were called on the telephone, counseling was done, and the cause of the treatment interruption was recorded and attempts were made to resolve the problem. Results: We enrolled 1200 patients in the study. There were more male (n = 724 [60.4%]) than female (n = 476 [39.6%]) patients. The cohort included 379 patients (31.6%) with carcinoma of the head-and-neck and 301 patients (25.1%) with gynecological malignancies. There were 100 (8.3%) treatment interruptions recorded during the study period. The common causes of radiation interruption were radiation-induced toxicity (n = 20 [20%]), patient death (n = 15 [15%]), financial (n = 15 [15%]), and social (n = 12 [12%]) issues. After counseling over the telephone, treatment could be restarted in 25 (25%) of the 100 patients who had interrupted and stopped radiotherapy. Conclusion: Treatment interruption is relatively common in our patients receiving radiotherapy. To prevent such dropouts and increase compliance to treatment, adequate and frequent counseling before and during radiation treatment is needed.

Introduction: Chronic total occlusions (CTO) of the superficial femoral artery (SFA) are generally managed by an endovascular retrograde contralateral “crossover” or ipsilateral antegrade common femoral artery (CFA) approach. In cases with flush occlusion or a very short SFA stump at common CFA bifurcation, antegrade recanalization frequently fails due to an inability to engage the true ostium of the SFA. The purpose of this study was to evaluate the efficacy and safety of retrograde popliteal approach for endovascular revascularization of flush SFA CTO. Materials and Methods: We retrospectively investigated 18 patients (14 males and 4 females, mean age 61 ± 14 years) with flush SFA CTO undergoing retrograde popliteal artery (PA) revascularization at two endovascular centers in North India between January 2017 and December 2018. All the patients had critical limb ischemia (CLI) and flush SFA CTO with ostial involvement. Hemostasis was achieved by the manual compression only. Study endpoints were technical success rate, puncture site complications, and limb salvage. Results: CLI with Rutherford category 5 dominated the clinical presentation (56%) with most of the patients presenting late after disease onset. Majority were Trans-Atlantic Inter-Society Consensus-C (72%) chronic SFA occlusions (mean lesion length 185 ± 52 mm). Doppler-guided popliteal puncture and sheath placement were successful in 100%. Technical success rate of retrograde revascularization was 83%. Intraluminal recanalization was possible in 56% from the popliteal access, and subintimal recanalization was done in 28%. There was no major access site-related complication or mortality in the follow-up period. The primary patency rates at 6 months and 1 year postintervention were 93% and 80%, respectively. Conclusions: Retrograde PA approach under Doppler guidance was effective in terms of technical success rate of popliteal puncture as well as retrograde revascularization of flush SFA CTO. The approach was safe with no major access site complications.

Background There is a constant search for an ideal treatment for vitiligo. Platelet-rich plasma (PRP) is a novel modality for treating stable vitiligo. Presently, literature regarding the efficacy of combining either PRP or platelet-poor plasma (PPP) with psoralen+sunlight (PUVASOL) in vitiligo does not exist. Objective This study compares the safety and efficacy of combining PUVASOL with either PRP or PPP against PUVASOL alone in patients with stable nonsegmental vitiligo. Patients and methods This prospective, open-labeled, comparative study was done in 20 patients with stable nonsegmental vitiligo, each having at least three vitiligo patches of similar shape and size. All the patients received PUVASOL as standard treatment modality. PRP or PPP was injected into two separate study patches as an adjuvant treatment with PUVASOL; however, the third patch acted as a control and was treated by PUVASOL alone. These patients were followed up for 4 weeks after the end of four treatment sessions. Results Compared with control areas (exposed to PUVASOL only), statistically significant more repigmentation was seen in areas treated with a platelet preparation (either PRP or PPP) along with PUVASOL. However, there was no significant difference between PRP and PPP arm (P=0.824) as per qualitative and quantitative assessment. Conclusion Addition of a platelet preparation (either PRP or PPP) had an additive beneficial effect on the response of PUVASOL therapy in patients with stable vitiligo at the study end point of 16 weeks. However, PRP and PPP showed comparable efficacy at the study end point in terms of repigmentation when used in conjunction with PUVASOL.

Purpose of the Study: Reversible proximal tubular dysfunction associated with distal renal tubular acidosis (dRTA) mimics type 3 RTA, a condition classically associated with features of both proximal RTA (pRTA) and dRTA. Proximal tubulopathy has been reported in children with primary dRTA, but the data in adults are lacking. Study Design: In this hospital record-based retrospective study, data from 66 consecutive cases of RTA, between January 2016 to December 2018, were retrieved and analyzed. Results: Mean age of the study population was 25.3 years (range: 3 months to 73 years). Six (9.1%) of them had pRTA, 58 (87.9%) had dRTA, 1 (1.5%) had type 3 RTA, and the remaining 1 (1.5%) had type 4 RTA. Ten patients (17.2%) with dRTA and 3 patients of pRTA (50%) had underlying secondary etiologies. Data on proximal tubular dysfunction were available for 30 patients with dRTA, of whom 1 had isolated dRTA, and the rest 29 patients had accompanying completely reversible proximal tubular dysfunction. Among the 10 cases of secondary dRTA, 6 were not evaluated for proximal tubular dysfunction. Of the remaining 4, 3 had reversible form of proximal tubular abnormality. Fifty-two patients with dRTA came from a population, indigenous to the “Rarh” region of India. Conclusions: Proximal tubular dysfunction often accompanies dRTA; 75% of the children with primary dRTA, at least 29% of adults with primary dRTA, and at least 30% of adults with secondary dRTA manifest such completely reversible form of proximal tubulopathy. “Rarh' region of India probably is a hotspot for endemic dRTA.

Introduction: Short penile length is a commonly encountered problem in clinical practice. Detection of abnormal stretched penile length (SPL) warrants appropriate endocrine evaluation. Ethnicity-specific SPL data are required to detect these abnormalities. There is a dearth of such data in India. This study aims to establish normative values of SPL in boys from West Bengal. Materials and Methods: This is a cross-sectional study. SPL, testicular volume (TV), height/length, and weight were measured in 460 boys aged 1 to 13 years from the schools located at urban, suburban, and rural areas in the state of West Bengal, India. Similar data were collected from 36 healthy neonates within 1–3 days of full-term delivery at IPGME and R and SSKM Hospital, Kolkata, West Bengal, India. Results: The 5th percentile, median, and 95th percentile of SPL were 1.7, 2.0, and 2.7 cm for neonates; 3.5, 4.4, and 6.4 cm for the children aged 1 Y–2 Y 11 M; 4.0, 5.5, and 7.0 cm for the age group 3 Y–4 Y 11 M; 4.2, 6.0, and 7.2 cm for the age group 5 Y–6 Y 11 M; 4.3, 6.0, and 7.6 cm for the age group 7 Y–8 Y 11 M; 4.4, 6.5, and 9.0 cm for the age group 9 Y–10 Y 11 M; and 4.8, 7.0, and 11.0 cm for the age group 11 Y–12 Y 11 M, respectively. SPL showed significant positive correlation with TV [r = 0.365, P < 0.0005] and height of the children [r = 0.516, P < 0.0005], but not with BMI. Conclusion: Our study provides normative data of SPL in neonate and children aged 1 to 13 years from the eastern part of India. SPL value correlated positively with TV and height of children.

The triad of blepharochalasis, double lip, and nontoxic thyroid enlargement characterizes Ascher syndrome. We describe the case of a 16-year-old female who presented with progressive laxity and swelling of the skin associated with recurrent progressive episodes of painless swelling of the eyelids with increase in the size of the upper lip and diffuse swelling over the neck. We discuss this case for rarity of its presentation in the Indian population.

Introduction: Glycated hemoglobin (HbA1c) can be altered in different conditions. We hypothesize that HbA1c levels may change due to altered thyroid status, possibly due to changes in red blood cell (RBC) turnover. Objectives: The objective of this study was to determine the effects of altered thyroid status on HbA1c levels in individuals without diabetes, with overt hyper- and hypo-thyroidism, and if present, whether such changes in HbA1c are reversed after achieving euthyroid state. Methods: Euglycemic individuals with overt hypo- or hyper-thyroidism were selected. Age- and sex-matched controls were recruited. Baseline HbA1c and reticulocyte counts (for estimation of RBC turnover) were estimated in all the patients and compared. Thereafter, stable euthyroidism was achieved in a randomly selected subgroup and HbA1c and reticulocyte count was reassessed. HbA1c values and reticulocyte counts were compared with baseline in both the groups. Results: Hb A1c in patients initially selected was found to be significantly higher in hypothyroid group. HbA1c values in hyperthyroid patients were not significantly different from controls. HbA1c reduction and rise in reticulocyte count were significant in hypothyroid group following treatment without significant change in glucose level. Hb A1c did not change significantly following treatment in hyperthyroid group. The reticulocyte count, however, decreased significantly. Conclusion: Baseline HbA1c levels were found to be significantly higher in hypothyroid patients, which reduced significantly after achievement of euthyroidism without any change in glucose levels. Significant baseline or posttreatment change was not observed in hyperthyroid patients. Our study suggests that we should be cautious while interpreting HbA1c data in patients with hypothyroidism.

Background: High dose oral prednisolone (100 mg/day) in Graves′ orbitopathy (GO) is limited by lesser response, and greater side-effects compared to intravenous (iv) methylprednisolone. Low dose oral prednisolone has not been evaluated in GO. This study aimed to evaluate the safety and efficacy of low dose oral prednisolone in GO. Materials and Methods: A total of 114 consecutive GO patients were screened of which 65 patients with previously untreated moderate-severe GO, clinical activity score (CAS) >2, without co-morbid states were randomized into treatment Group-A (iv methylprednisolone 0.5 g for 3 days/month for 4 months) and Group-B (oral prednisolone 1 mg/kg/day for 6 weeks then tapered stopped), and followed-up. Thirty-one patients in each group with at least 1-year follow-up were analyzed. Responders were defined as improvement in ≥ 1 major response criteria or ≥ 2 minor response criteria. The trial is registered at ctri.nic.in (CTRI/2013/12/004264). Results: At 1-year, 27/31 (87.10%) patients were responders in Group-A compared to 17/31 (54.84%) in Group-B (P = 0.005). There was a greater improvement in CAS score in patients of Group-A as compared to Group-B (P < 0.001). Responders (n = 44) had significantly higher baseline intra-ocular pressures and left eye proptosis as compared to nonresponders. Cox-regression revealed baseline T 4 levels, diplopia, and smoking history were predictive of remission. Low dose prednisolone was well tolerated, and the occurrence of adverse events were comparable in both groups. Conclusions: Low dose oral prednisolone is inferior to iv pulse methylprednisolone in managing GO, having a comparable side-effect profile. It can be a safe second line alternative in patients intolerant to pulse iv methylprednisolone.

Germ cell tumors may lead to incomplete isosexual male precocity and are commonly located in the pineal gland. Germinomas of the basal ganglia are almost always unilateral and precocious puberty is a rare manifestation in them. We report a 9.5-year-old boy who presented with incomplete isosexual precocity due to bilateral basal ganglia germinoma.

Thyroid associated orbitopathy, although seen most commonly with thyrotoxicosis, is also known to occur in primary hypothyroidism. Myasthenia gravis is an autoimmune condition with an established association with autoimmune thyroid disease. We report the case of a patient who presented with recent onset unilateral ptosis that was fatigable with a history of proptosis since a year. On examination, she had a goiter, bilateral proptosis, restriction of upward gaze and adduction both eyes and normal pupils. Investigations revealed primary hypothyroidism with anti-thyroid peroxidase positive and anti-acetylcholine receptor antibody positive. Computerized tomography orbit showed thickening of medial and inferior rectus characteristic of thyroid orbitopathy. A diagnosis of primary hypothyroidism with thyroid orbitopathy with ocular myasthenia gravis was made. Patient is on Levothyroxine and anticholinesterase medications and is on follow-up. We present this case to highlight that the presence of ptosis in a patient with thyroid orbitopathy should alert the clinician to the possible coexistence of myasthenia gravis.

Ectopic neurohypophysis (EN) is found in nearly half of children with growth hormone deficiency (GHD). Rathke′s cyst (RC) is uncommon in children and when present, hypopituitarism is found in nearly half of them. We present a fourteen and half-year-old girl with severe short stature and delayed puberty who on evaluation was found to have GHD, secondary hypocortisolism, and hypogonadism. Imaging revealed hypoplastic anterior pituitary, stalk agenesis, EN at tuber cinereum and intrapituitary RC. This is perhaps the first report of simultaneous occurrence of EN and RC, which was seen in a girl with multiple pituitary hormone deficiency. A primary defect in pituitary development may explain this simultaneous occurrence of EN and RC and hence this severe anterior pituitary function deficit.

Renal tubular disorders are an important cause of refractory rickets. Wilson′s disease, an inherited disorder of copper metabolism has varied presentations. We present a case of refractory rickets due to Fanconi′s syndrome attributable to Wilson′s disease. An adolescent girl presented with pain in the hip and knee joints and a knock-knee deformity since six years. She had received multiple doses of cholecalciferol with little improvement. There was no history of seizures, polyuria, jaundice, intake of drugs, or similar complaints in the family. Examination revealed a severely short stature with widening of the wrist joint and genu valgum. Examination of the central nervous system (CNS) was normal. Skeletal radiographs showed features suggestive of rickets at the hip and knee joints. Routine biochemistry was normal, 25-hydroxyvitamin D [25(OH)D] was adequate (57.1 ng/dL), with normal corrected calcium (9.24 mg/dL), low phosphate (2.76 mg/dL), elevated bone-specific alkaline phosphatase, and normal renal functions. Twenty-four-hour urine revealed phosphaturia, kaliuresis, and glucosuria with normal blood sugars and aminoaciduria. Blood gas analysis revealed normal anion gap metabolic acidosis with a urine pH of 7. Ammonium chloride (NH 4 CL) challenge test revealed proximal tubular acidosis. A search for causes revealed Kayser-Fleischer rings. The diagnosis of Wilson′s disease was confirmed by low serum ceruloplasmin levels (6.5 mg/dL; normal: 18-35 mg/dL) with high 24-hour urine copper levels (433 mcg; normal: 20-50 mcg). She was started on a replacement of alkali, phosphate, calcium, and vitamin D, with zinc acetate for Wilson′s disease. Rickets as a presenting feature of Wilson′s disease has been reported rarely. Recognition of this entity is important, as treatment of the primary condition may improve tubular function as well.

Objective: To present a rare case of gigantism. Case Report: A 25-year-old lady presented with increased statural growth and enlarged body parts noticed since the age of 14 years, primary amenorrhea, and frontal headache for the last 2 years.She has also been suffering from non-inflammatory low back pain with progressive kyphosis and pain in the knees, ankles, and elbows for the last 5 years. There was no history of visual disturbance, vomiting, galactorrhoea, cold intolerance. She had no siblings. Family history was non-contributory.Blood pressure was normal. Height 221 cm, weight 138 kg,body mass index (BMI)28. There was coarsening of facial features along with frontal bossing and prognathism, large hands and feet, and small goitre. Patient had severe kyphosis and osteoarthritis of knees. Confrontation perimetry suggested bitemporal hemianopia. Breast and pubic hair were of Tanner stage 1. Serum insulin like growth factor-1 (IGF1) was 703 ng/ml with all glucose suppressedgrowth hormone (GH)values of >40 ng/ml. Prolactin was 174 ng/ml. Basal serum Lutenising Hormone (LH), follicle stimulating Hormone (FSH) was low. Oral glucose tolerance test (OGTT), liver and renal function tests, basal cortisol and thyroid profile, Calcium, phosphorus and Intact Parathyroid hormone (iPTH) were normal.Computed tomographyscan of brain showed large pituitary macroadenoma. Automated perimetry confirmed bitemporal hemianopia. A diagnosis of gigantism due to GH secreting pituitary macroadenoma with hypogonadotrophichypogonadism was made. Debulking pituitary surgery followed by somatostatin analogue therapy with gonadal steroid replacement had been planned, but the patient refused further treatment.

Introduction: Tuberculosis is the most common cause of Addison′s disease in India. The exact status of adrenal reserve in tuberculosis is still an enigma and recovery of adrenal function is unpredictable. Objective: We report a case with a pre-Addisonian state and unchanged adrenal size after 1 year treatment. Materials and Methods: A 31-year patient with adrenal tuberculosis was diagnosed and treated with anti tubercular drugs (ATDs) and steroid. Results: A 31-year male, presented with fever and weight loss for 3½ months with anorexia, nausea, hyperpigmentation of skin, and buccal mucosa and weakness with past h/o adequately treated pulmonary tuberculosis at 3 years of age. On examination, the patient was anemic. A non-tender, firm right (Rt.) submandibular lymphnode was palpable. Investigations revealed: High erythrocyte sedimentation rate (ESR), negative HIV, and sputum for acid fast bacilli (AFB). Initial cortisol was high but subsequently became low with negative short synacthin test (SST). Computed tomography showed bilateral (B/L) enlarged hypodense adrenal mass with inconclusive fine needle aspiration cytology (FNAC) and negative AFB culture. Rt. submandibular lymph node FNAC showed caseating granuloma. ATDs and steroids were started, the lymphadenopathy regressed and symptoms subsided. However, after 1 year of treatment steroid withdrawal failed and adrenal size remained the same. Conclusion: The adrenal has considerable capacity to regenerate during active infection and ultimately become normal or smaller in size. However, in the case reported here, they failed to regress. Reversal of adrenal function following ATD is a controversial issue. Some studies have shown normalization following therapy, while others have contradicted it similar to the finding in our case.

Introduction: Allgrove′s syndrome is a rare autosomal-recessive disorder with only about 70 cases reported thus far and is characterized by alacrima, achalasia, and ACTH insensitivity among other clinical features. However, it has a widely variable clinical presentation, which may result in such cases remaining undiagnosed. Objective: To report a patient with impending Allgrove′s syndrome and to highlight the importance of clinical suspicion in diagnosing the same. Materials and Methods: A 2.5-year-old girl was diagnosed with impending Allgrove′s syndrome on the basis of clinical presentation, barium swallow study, Schirmer′s test, and hormonal evaluation. Results: A 2.5-year-old girl, born of non-consanguineous marriage, presented with failure to thrive and developmental delay with occasional vomiting on taking solid or semi-solid food for past 6 months. Examination revealed stunted weight (SDS of -4.4) and height (SDS of -4.76), and barium swallow showed presence of achalasia. On direct questioning, her mother mentioned presence of decreased tears on crying since birth, and Schirmer′s test confirmed the presence of dry eyes. Baseline ACTH was slightly elevated with normal basal and post-ACTH stimulation serum cortisol. Based on these findings, impending Allgrove′s syndrome was diagnosed with a plan for follow-up study of adrenal function. Conclusions: Allgrove′s syndrome may be an under diagnosed disorder as aclarima is often overlooked. However, a high index of clinical suspicion may help in avoiding adrenal crisis by diagnosing the condition early.