Dhanapathi Halanaik

Tumor(s) induced osteomalacia--a curious case of double trouble.

CONTEXT We report a case of tumor-induced osteomalacia with evidence of synchronous multifocal fibroblast growth factor 23 (FGF23) production. OBJECTIVE The aim is to present a case of tumor-induced osteomalacia and to highlight the fact that incomplete removal of multifocal FGF23-producing tumors, which are not entirely picked up by functional imaging, could be the cause of treatment failure. SETTING The patient was treated in the Department of Endocrinology of a tertiary care center in India. PATIENT We report the case of a 42-year-old male with tumor-induced osteomalacia. INTERVENTION We treated the tumor-induced osteomalacia with staged surgery of the two tumors. The 18F-fluorodeoxyglucose (FDG)-avid lesion (considered the sole culprit lesion after functional imaging) was resected first, followed by the non-FDG-avid lesion. The sequential removal of both tumors resulted in complete cure. RESULTS The patient had hypophosphatemia and hyperphosphaturia. C-Terminal FGF23 level was elevated. Positron emission tomography-computed tomography showed two lesions-an FDG-avid lesion in the right leg, and a non-avid lesion in the left thigh. After removal of the FDG-avid lesion, the hypophosphatemia persisted, and the FGF23 level showed only modest reduction. The patient had complete clinical and biochemical resolution only after removal of the second non-FDG-avid tumor. CONCLUSIONS We present the case of a tumor-induced osteomalacia whose biochemical parameters did not improve after removal of the FDG-avid tumor initially. The possibility of multifocal FGF23 production was considered, and the second, non-FDG-avid lesion was resected, which resulted in complete cure. Thorough clinical examination and meticulous follow-up with documentation of the biochemical resolution are necessary for management of all patients with this rare disorder.

Radioiodine therapy in patients with Graves' disease and the effects of prior carbimazole therapy

The use of radioiodine as the first line of treatment in Graves’ disease is restricted in India because of its limited availability and an unrealistic risk perception associated with it. Additionally, the effectiveness of radioiodine ablation in Graves’ disease is influenced by many factors. Prior medical antithyroid therapy is one such important factor. Aims: To analyze the efficacy of low dose radioiodine therapy (5 mCi) in treatment of naive patients of Graves’ disease in comparison to that in which it was already primed with an antithyroid drug, carbimazole. Settings and Design: A non-randomized, interventional study conducted in the Department of Medicine and Endocrinology of a tertiary care institute in South India. Materials and Methods: The study had two groups; Group A (36 treatment naive, uncomplicated Graves’ disease patients) and B (34 Graves’ disease patients on carbimazole prior to radioiodine therapy). Both groups had baseline clinical, biochemical evaluation and were reassessed at 3 and 6 months for evaluating the clinical status for possible documentation of cure. Results: The cure rate was 61.1% in drug naive group and 58.8% in pretreated group at 6 months following radioiodine (P = 0.845). Higher baseline 999m technicium (99m Tc) uptake, male gender, BMI and higher baseline free thyroxine (fT4) level predicted treatment failure following radioiodine therapy. Conclusions: Administration of carbimazole prior to low dose radioiodine therapy does not alter the efficacy of radioiodine. Low fixed dose (5 mCi) of radioactive iodine may be a safe and effective primary therapeutic option in Graves’ disease patients pretreated with antithyroid drugs.

Congenital hypothyroidism - An usual suspect at an unusual age: A case series.

Menorrhagia is the most common menstrual irregularity in hypothyroid women. However, it is an uncommon presentation of congenital hypothyroidism (CH). In the era of newborn screening across the world, when CH is extremely rare, we came across four cases of CH due to delayed diagnosis, presenting in adulthood with severe menorrhagia. Aims: To signify the atypical presentation of CH in late adulthood due to delayed diagnosis and its sequelae; and to increase the awareness about this treatable condition. Settings and Design: This is a cross-sectional analysis of consecutive patients with CH presenting after 18 years between 2010 and 2012 from the CH registry of Department of Endocrinology, Jawaharlal Institute of Postgraduate Medical Education and Research (JIPMER), India. Subjects and Methods: Four patients of CH presenting late (>18 years) with atypical presentations out of total 16 cases of CH within a period of 3 years were analyzed for clinical, hormonal, and imaging findings. Results: Between the years 2010 and 2012, 16 cases of CH were registered at our center out of which four cases presented in late adolescence and adulthood with menorrhagia. Age range of these patients was 18-30 years. All four patients were females presenting with anemia secondary to menorrhagia and upon evaluation were found to have CH. All of them showed improvement after starting treatment and are currently doing well with regular menstrual cycles. Conclusions: Our study demonstrates the importance of thyroid evaluation in a patient presenting with menorrhagia along with short stature. There is need for awareness among clinicians regarding the clinical features of CH and nationwide screening for CH in our country.

Differential response of idiopathic sporadic tumoral calcinosis to bisphosphonates

Context: Tumoral calcinosis is a disorder of phosphate metabolism characterized by ectopic calcification around major joints. Surgery is the current treatment of choice, but a suboptimal choice in recurrent and multicentric lesions. Aims: To evaluate the efficacy of bisphosphonates for the management of tumoral calcinosis on optimized medical treatment. Settings and Design: The study was done in the endocrine department of a tertiary care hospital in South India. We prospectively studied two patients with recurrent tumoral calcinosis who had failed therapy with phosphate lowering measures. Materials and Methods: After informed consent, we treated both patients with standard age adjusted doses of bisphosphonates for 18 months. The response was assessed by X ray and whole body 99mTc-methylene diphosphonate bone scan at the beginning of therapy and at the end of 1 year. We also estimated serum phosphate levels and urinary phosphate to document serial changes. Results: Two patients (aged 19 and 5 years) with recurrent idiopathic hyperphosphatemic tumoral calcinosis, following surgery were studied. Both patients had failed therapy with conventional medical management − low phosphate diet and phosphate binders. They had restriction of joint mobility. Both were given standard doses of oral alendronate and parenteral pamidronate respectively for more than a year, along with phosphate lowering measures. At the end of 1 year, one of the patients had more than 95% and 90% reduction in the size of the lesions in right and left shoulder joints respectively with total improvement in range of motion. In contrast, the other patient (5-year-old) had shown no improvement, despite continuing to maintain normophosphatemia following treatment. Conclusions: Bisphosphonate therapy in tumoral calcinosis is associated with lesion resolution and may be used as a viable alternative to surgery, especially in cases with multicentric recurrence or treatment failure to other drugs.

A rare pediatric case of grossly dilated ureter presenting as abdominal mass

Renal masses account for 55% of cases presenting as palpable abdominal mass in children. [1] An eight year male presented with palpable abdominal mass and pain.The patient underwent renal dynamic scan,which raised possibility of left duplex kidney with non-functioning moiety,as the size of left kidney was smaller than seen on Ultrasonography (USG). Magnetic resonance (MR)urography confirmed the findings with patient undergoing left hemi-nephrectomy and is doing well.In case of discrepancy in size of kidney on USG and renal scan,duplex kidney should be considered as differential,other causes being, renal cyst,benign/malignant mass and renal calculi.Gross hydro-ureter presenting as palpable abdominal mass is very rare with few reported cases. [2],[3],[4]

Co-occurrence of congenital hydronephrosis and FOXL2-associated blepharophimosis, ptosis, epicanthus inversus syndrome (BPES).

Blepharophimosis, ptosis, epicanthus inversus syndrome (BPES) is an autosomal dominantly inherited congenital malformation of the eyelids. Diagnostic criteria include blepharophimosis, ptosis, epicanthus inversus and telecanthus. Type І BPES has additional features of premature ovarian failure and female infertility, while type ІІ occurs isolated. We report a two-year old male child with typical features of BPES and bilateral congenital hydronephrosis. The child, first-born to non-consanguineous parents, presented to us with hypertension. Congenital hydronephrosis and reduced renal function were confirmed by renal dynamic scan. Pyeloplasty and stent placement were performed with subsequent resolution of hypertension. On follow up, growth and development are appropriate for age. His father has similar but less severe features of BPES. Sequencing of the FOXL2 gene revealed a heterozygous FOXL2 mutation c.672_701dup, which is a recurrent 30-bp duplication leading to expansion of the polyalanine tract (p.Ala225_Ala234dup), in both father and son. Additional atypical clinical features have been reported previously in BPES patients with this mutation. However, this is the first report of a renal congenital anomaly in a BPES patient with this or other mutations. Although a pleiotropic effect of the FOXL2 mutation cannot be excluded, the co-occurrence of congenital hydronephrosis and BPES may represent two different entities.

A unique ca(u)se of quadriparesis.

Primary hyperparathyroidism (PHPT) is an uncommon cause of neuromuscular weakness which is often ignored due to non-specific nature of complaints. The authors present a case of PHPT with severe 25-hydroxyvitamin D (25(OH)D) deficiency which presented with quadriparesis. Normocalcaemic hyperparathyroidism with hypophosphatemia was documented initially and correction of 25(OH)D deficiency unmasked hypercalcaemia. A parathyroid adenoma causing PHPT was localised with radiology and scintigraphy of neck. An ectopic supernumerary parathyroid adenoma was identified and removed from the right tracheoesophageal groove during bilateral exploration of neck and the patient was completely cured after surgery.

Symptomatic primary hyperparathyroidism in Indians

229 Figure 1: Tc-99m MDP whole-body bone scan of patient with primary hyperparathyroidism A paper proposing the use of ICO in the definition of MS has been recently accepted[10] and is in press. It would be of great academic interest to look at the cutoffs suggested for ICO in different studies, a few already published and others ongoing. In addition to the academic value ICO is very much useful in spreading a health awareness message among the community – “If your waist size is more than half of your height, please consult your doctor.” For those at risk I would prefer a message – “Limit your waist size to half of your height.”