Ajitesh Roy

Duplication of the upper lip and maxilla

We report a patient with duplication of the upper lip and maxilla. This deformity is extremely rare and six previous reports are reviewed.

Inter-patient Variability in Clinical Efficacy of Metformin in Type 2 Diabetes Mellitus Patients in West Bengal, India

Background and objective: Metformin is often used as a first-line therapy for Type 2 diabetes mellitus (T2DM), but the glycemic response to metformin is variable in patients. Here, we aimed to assess the inter-patient variability in terms of glycemic response to metformin in the state of West Bengal, India. Material and methods: We enrolled newly diagnosed treatment naive 113 patients with T2DM. Patients were subjected to assay of glycated hemoglobin (HbA1c), fasting blood glucose (FBG), postprandial blood glucose (PP) and measurement of body mass index (BMI), waist circumstances (WC) before and after the end of 3 months of immediate release metformin (2000mg/day) therapy. Results: Out of 113 patients, 111 (58 male and 53 female; average age 43.13 years) were provided with 3 months of metformin therapy. 102 individuals responded to metformin, but HbA1c levels of 9 patients did not improve after 3 months of drug therapy. Conclusions: In the present study, metformin lead to improvements in glycemic control in 92% of newly diagnosed T2DM patients but in 8% does not which is much less in this part of India.

Refractory rickets due to Fanconi's Syndrome secondary to Wilson's disease.

Renal tubular disorders are an important cause of refractory rickets. Wilsons disease, an inherited disorder of copper metabolism has varied presentations. We present a case of refractory rickets due to Fanconis syndrome attributable to Wilsons 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 (NH4CL) challenge test revealed proximal tubular acidosis. A search for causes revealed Kayser-Fleischer rings. The diagnosis of Wilsons 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 Wilsons disease. Rickets as a presenting feature of Wilsons disease has been reported rarely. Recognition of this entity is important, as treatment of the primary condition may improve tubular function as well.

Rathke's cyst with ectopic neurohypophysis presenting as severe short stature with delayed puberty.

Ectopic neurohypophysis (EN) is found in nearly half of children with growth hormone deficiency (GHD). Rathkes 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.

Effects of thyroid status on glycated hemoglobin

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.

Precocious puberty: A blessing in disguise!

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.

Evolving adrenal insufficiency

Introduction: Tuberculosis is the most common cause of Addisons 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.

Thyroid associated orbitopathy with ocular myasthenia in primary hypothyroidism: Keep those eyes open

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.

Case Studies in Insulin Therapy: The Last Arrow in the Treatment Quiver

B ecause type 2 diabetes is a progressive disease, its natural course requires initiation of insulin in a significant proportion of patients, especially when oral agents fail to achieve glycemic targets. Most practicing physicians and endocrinologists acknowledge that neither the transition to nor the journey with insulin treatment is often as smooth as one would hope. Most have occasionally met with patients who plead for help in controlling their blood glucose levels with oral drugs alone. Often, doctors struggle to persuade such patients to start insulin. In this article, we share some of our experiences—some common throughout the world and others unique to our country—in caring for patients who are prescribed insulin. It is important to learn from these experiences with insulin because it represents, more often than not, the last arrow in our treatment quiver. The patient was a 45-year-old man who has had type 2 diabetes for the past 6 years and had been taking insulin for the past 2 years. His body weight was 50 kg (BMI 24 kg/m2). He presented with uncontrolled and recently increased blood glucose levels and a dramatic increase in insulin dose during the past 5 months without any apparent cause. He had no history of fever, infections, or steroid use. He had had multiple hospital visits during the past few months. Figure 1. Discoloration with hypertrophy on medial aspects of both thighs on the site where the patient described in Case Study 1 was injecting insulin. The patient appeared to be well educated and concerned about this situation. To our surprise, however, we found he was injecting insulin on the medial aspect of his thighs. Examination showed lipohypertrophy with swelling in that region (Figure 1). The crowded clinic with its lack of trained diabetes educators and nurses was the perfect setting for this …

Pituitary gigantism: a case report.

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.