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Kusum Lata Departments of Obstetrics and Gynecology, Endocrinology, Pharmacology, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India

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Pinaki Dutta Departments of Obstetrics and Gynecology, Endocrinology, Pharmacology, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India

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Subbiah Sridhar Departments of Obstetrics and Gynecology, Endocrinology, Pharmacology, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India

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Minakshi Rohilla Departments of Obstetrics and Gynecology, Endocrinology, Pharmacology, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India

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Anand Srinivasan Departments of Obstetrics and Gynecology, Endocrinology, Pharmacology, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India

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G R V Prashad Departments of Obstetrics and Gynecology, Endocrinology, Pharmacology, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India

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Viral N Shah Departments of Obstetrics and Gynecology, Endocrinology, Pharmacology, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India

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Anil Bhansali Departments of Obstetrics and Gynecology, Endocrinology, Pharmacology, Post Graduate Institute of Medical Education and Research (PGIMER), Chandigarh, India

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Objectives

Thyroid antibody positivity during pregnancy has been associated with adverse outcomes including miscarriage and preterm delivery. The aim of the study is to evaluate the obstetric outcome in pregnant women with recurrent miscarriage and their response to levothyroxine (l-T4) therapy.

Study design and methods

All pregnant and non-pregnant women between 21 and 35 years of age with a history of two or more consecutive miscarriages were included in the study. A third group comprising 100 pregnant women without a history of miscarriage were taken as healthy controls. Thyroid autoimmunity, prevalence of subclinical hypothyroidism and maternal and foetal complications were analysed in all the groups with appropriate statistical methods.

Results

The mean age of the patients included in the study was 27.0±3.1 years. Of 100 pregnant patients with previous recurrent miscarriage, thyroid autoimmunity (thyroid peroxidase antibody (TPOAb+) >34 U/ml) was found in 31% of the cases. The incidence of subclinical hypothyroidism was higher in TPOAb+ group than in TPOAb group (52 vs 16%; P=0.0002). There was no difference in the prevalence of miscarriage or obstetric outcomes between recurrent miscarriage and healthy pregnant women group irrespective of TPO status.

Conclusions

The prevalence of thyroid autoimmunity was higher in pregnant women with a history of recurrent abortion compared with healthy pregnant control population. Following l-T4 treatment, there was no difference in prevalence of miscarriage between hypothyroid and euthyroid individuals in TPOAb+ women.

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Liza Das Department of Endocrinology, Postgraduate Institute of Medical Education and Research, (PGIMER), Chandigarh, India

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Kim Vaiphei Department of Histopathology, PGIMER, Chandigarh, India

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Ashutosh Rai Department of Translational and Regenerative Medicine, PGIMER, Chandigarh, India

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Chirag Kamal Ahuja Department of Radiology, PGIMER, Chandigarh, India

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Paramjeet Singh Department of Radiology, PGIMER, Chandigarh, India

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Ishani Mohapatra Department of Pathology and Laboratory Medicine, Medanta, The Medicity, Gurgaon, India

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Rajesh Chhabra Department of Neurosurgery, PGIMER, Chandigarh, India

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Anil Bhansali Department of Endocrinology, Postgraduate Institute of Medical Education and Research, (PGIMER), Chandigarh, India

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Bishan Dass Radotra Department of Histopathology, PGIMER, Chandigarh, India

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Ashley B Grossman Centre for Endocrinology, William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK
Green Templeton College, University of Oxford, Oxford, UK

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Márta Korbonits Centre for Endocrinology, William Harvey Research Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London, UK

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Pinaki Dutta Department of Endocrinology, Postgraduate Institute of Medical Education and Research, (PGIMER), Chandigarh, India

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Objective

Posterior pituitary tumours (PPTs) are rare neoplasms with the four recognised subtypes unified by thyroid transcription factor -1 (TTF-1) expression, according to the 2017 WHO classification. Though traditionally defined as low-grade neoplasms, a substantial proportion of them show recurrence/persistence following surgery.

Methods

We selected patients with PPTs in our cohort of 1760 patients operated for pituitary tumours over the past 10 years (2010–2019). The clinical, radiological, hormonal, histopathological profiles and long-term outcomes of the three cases identified (two pituicytomas and one spindle cell oncocytoma, SCO) were analysed. Following a literature review, data of all published cases with documented TTF-1 positive pituicytomas and SCOs were analysed to determine the predictors of recurrence/persistence in these tumours.

Results

Patients presented with compressive features or hypogonadism. Two had sellar-suprasellar masses. One had a purely suprasellar mass with a pre-operative radiological suspicion of pituicytoma. Two were operated by transsphenoidal surgery and one transcranially guided by neuronavigation. Histopathology confirmed spindle cells in a storiform arrangement and low Ki67 index. Immunohistochemistry showed positive TTF-1, S-100 expression and variable positivity for EMA, vimentin and GFAP. Re-evaluation showed recurrence/persistence in two patients. A literature review of recurrent/persistent pituicytoma (n = 17) and SCO (n = 9) cases revealed clinical clues (headache for pituicytomas, male gender for SCO), baseline tumour size (≥20.5 mm with sensitivity exceeding 80%) and longer follow-up duration as determinants of recurrence/persistence.

Conclusion

PPTs are rare sellar masses with quintessential TTF-1 positivity. Recurrent/persistent disease following surgery is determined by greater tumour size at baseline and duration of follow-up. This warrants intensive and long-term surveillance in these patients.

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Kush Dev Singh Jarial Department of Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India

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Anil Bhansali Department of Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India

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Vivek Gupta Department of Radio-diagnosis, Post Graduate Institute of Medical Education and Research, Chandigarh, India

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Paramjeet Singh Department of Radio-diagnosis, Post Graduate Institute of Medical Education and Research, Chandigarh, India

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Kanchan K Mukherjee Department of Neurosurgery, Post Graduate Institute of Medical Education and Research, Chandigarh, India

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Akhilesh Sharma Department of Psychiatry, Post Graduate Institute of Medical Education and Research, Chandigarh, India

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Rakesh K Vashishtha Department of Histopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India

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Suja P Sukumar Department of Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India

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Naresh Sachdeva Department of Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India

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Rama Walia Department of Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India

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Context

Bilateral inferior petrosal sinus sampling (BIPSS) using hCRH is currently considered the ‘gold standard’ test for the differential diagnosis of ACTH-dependent Cushing’s syndrome (CS). Vasopressin is more potent than CRH to stimulate ACTH secretion as shown in animal studies; however, no comparative data of its use are available during BIPSS.

Objective

To study the diagnostic accuracy and comparison of hCRH and lysine vasopressin (LVP) stimulation during BIPSS.

Patients and methods

29 patients (27-Cushing’s disease, 2-ectopic CS; confirmed on histopathology) underwent BIPSS and were included for the study. Patients were randomized to receive hCRH, 5 U LVP or 10 U LVP during BIPSS for ACTH stimulation. BIPSS and contrast-enhanced magnetic resonance imaging (CEMRI) were compared with intra-operative findings of trans-sphenoidal surgery (TSS) for localization and lateralization of the ACTH source.

Results

BIPSS correctly localized the source of ACTH excess in 29/29 of the patients with accuracy of 26/26 patients, using any of the agent, whereas sensitivity and PPV for lateralization with hCRH, 5 U LVP and 10 U LVP was seen in 10/10, 6/10; 10/10,8/10 and 7/7,6/7 patients respectively. Concordance of BIPSS with TSS was seen in 20/27, CEMRI with BIPSS in 16/24 and CEMRI with TSS in 18/24 of patients for lateralizing the adenoma. Most of the side effects were transient and were comparable in all the three groups.

Conclusion

BIPSS using either hCRH or LVP (5 U or 10 U) confirmed the source of ACTH excess in all the patients, while 10 U LVP correctly lateralized the pituitary adenoma in three fourth of the patients.

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Kranti Khadilkar Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India

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Vijaya Sarathi Department of Endocrinology, Vydehi Institute of Medical Sciences and Research Center, Bangalore, India

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Rajeev Kasaliwal Department of Endocrinology, Mahatma Gandhi Hospital and Medical College, Jaipur, India

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Reshma Pandit Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India

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Manjunath Goroshi Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India

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Gaurav Malhotra Radiation Medicine Centre, Bhabha Atomic Research Centre, Mumbai, India

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Abhay Dalvi Department of General Surgery, Seth G S Medical College and KEM Hospital, Mumbai, India

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Ganesh Bakshi Department of Uro-oncology, Tata Memorial Hospital, Mumbai, India

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Anil Bhansali Department of Endocrinology, Postgraduate Institute of Medical Education & Research (PGIMER), Chandigarh, India

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Rajesh Rajput Department of Endocrinology, Pt. B.D. Sharma PGIMS, Rohtak, India

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Vyankatesh Shivane Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India

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Anurag Lila Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India

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Tushar Bandgar Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India

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Nalini S Shah Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India

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Background and aims

Malignant transformation of pheochromocytomas/paragangliomas (PCC/PGL) is a rare occurrence, and predictive factors for the same are not well understood. This study aims to identify the predictors of malignancy in patients with PCC/PGL.

Materials and methods

We performed a retrospective analysis of 142 patients with either PCC or PGL registered at our institute between 2000 and 2015. Records were evaluated for clinical parameters like age, gender, familial/syndromic presentation, symptomatic presentation, biochemistry, size, number and location of tumours and presence of metastases and mode of its diagnosis.

Results

Twenty patients were found to have metastases; 13 had metastases at diagnosis and seven during follow-up. Metastases were detected by radiology (CT-neck to pelvis) in 11/20 patients (5/13 synchronous and 6/7 metachronous), 131I-metaiodobenzylguanidine in five (2/12 synchronous and 3/6 metachronous) patients and 18F-flurodeoxyglucose PET/CT in 15 (12/12 synchronous and 3/3 metachronous) patients. Malignant tumours were significantly larger than benign tumours (8.3 ± 4.1 cm, range: 3–22 cm vs 5.7 ± 2.3 cm, range: 2–14 cm, P = 0.0001) and less frequently metanephrine secreting. On linear regression analysis, tumour size and lack of metanephrine secretion were the independent predictors of malignancy.

Conclusions

Patients with primary tumour size >5.7 cm and lack of metanephrine secretory status should be evaluated for possible malignancy not only at diagnosis but also in the postoperative period. As compared to CT and 131I-MIBG scan, 18F-flurodeoxyglucose PET/CT analyses are better (sensitivity: 100%) for the diagnosis of metastases in our study.

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Pinaki Dutta
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Bhuvanesh Mahendran Department of Endocrinology, Internal Medicine, Cardiology, Hematology, Histopathology, Gastroenterology, Neurosurgery, Pharmacology, Radiodiagnosis, 4th Floor, F Block, Post Graduate Institute of Medical Education and Research, Nehru Hospital, Chandigarh 160012, India

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K Shrinivas Reddy Department of Endocrinology, Internal Medicine, Cardiology, Hematology, Histopathology, Gastroenterology, Neurosurgery, Pharmacology, Radiodiagnosis, 4th Floor, F Block, Post Graduate Institute of Medical Education and Research, Nehru Hospital, Chandigarh 160012, India

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Jasmina Ahluwalia Department of Endocrinology, Internal Medicine, Cardiology, Hematology, Histopathology, Gastroenterology, Neurosurgery, Pharmacology, Radiodiagnosis, 4th Floor, F Block, Post Graduate Institute of Medical Education and Research, Nehru Hospital, Chandigarh 160012, India

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Kim Vaiphei Department of Endocrinology, Internal Medicine, Cardiology, Hematology, Histopathology, Gastroenterology, Neurosurgery, Pharmacology, Radiodiagnosis, 4th Floor, F Block, Post Graduate Institute of Medical Education and Research, Nehru Hospital, Chandigarh 160012, India

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Rakesh K Kochhar Department of Endocrinology, Internal Medicine, Cardiology, Hematology, Histopathology, Gastroenterology, Neurosurgery, Pharmacology, Radiodiagnosis, 4th Floor, F Block, Post Graduate Institute of Medical Education and Research, Nehru Hospital, Chandigarh 160012, India

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Prakamya Gupta Department of Endocrinology, Internal Medicine, Cardiology, Hematology, Histopathology, Gastroenterology, Neurosurgery, Pharmacology, Radiodiagnosis, 4th Floor, F Block, Post Graduate Institute of Medical Education and Research, Nehru Hospital, Chandigarh 160012, India

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Anand Srinivasan Department of Endocrinology, Internal Medicine, Cardiology, Hematology, Histopathology, Gastroenterology, Neurosurgery, Pharmacology, Radiodiagnosis, 4th Floor, F Block, Post Graduate Institute of Medical Education and Research, Nehru Hospital, Chandigarh 160012, India

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Mahesh Prakash Department of Endocrinology, Internal Medicine, Cardiology, Hematology, Histopathology, Gastroenterology, Neurosurgery, Pharmacology, Radiodiagnosis, 4th Floor, F Block, Post Graduate Institute of Medical Education and Research, Nehru Hospital, Chandigarh 160012, India

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Kanchan Kumar Mukherjee Department of Endocrinology, Internal Medicine, Cardiology, Hematology, Histopathology, Gastroenterology, Neurosurgery, Pharmacology, Radiodiagnosis, 4th Floor, F Block, Post Graduate Institute of Medical Education and Research, Nehru Hospital, Chandigarh 160012, India

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Viral N Shah
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Girish Parthan
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Anil Bhansali
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The effectiveness and short-term safety of recombinant human GH (r-hGH) in acromegaly patients with GH deficiency (GHD) after treatment are not well established. The study includes ten subjects with acromegaly who had GHD treated with r-hGH for 6 months. Control groups consisted of ten age-, gender-, and BMI-matched healthy subjects and ten active acromegaly patients who were treatment naïve. Body composition, quality of life (QoL), muscle strength, lipid profile, and cardiovascular risk factors were assessed in all subjects at baseline, and the same parameters were reassessed after 6 months of therapy with r-hGH in acromegaly with GHD. Repeat magnetic resonance imaging of the sella was performed in treated subjects. Optical colonoscopy was done and biopsies were taken from multiple sites for proliferation indices (Ki67). The median duration of GHD was 17.8 months and dose of r-hGH administered was 5.7±1.5 μg/kg per day. There was improvement in bone mineral content (P=0.01), bone mineral density (P=0.04), muscle strength (P<0.001), total cholesterol (P=0.003), high-density cholesterol (P<0.001), and QoL – score (P=0.005), and reduction in low-density cholesterol (P=0.003) and triglyceride (P=0.004) after treatment. There was no change in lean body mass, total body fat, hsCRP, lipoprotein (a), and fibrinogen levels. There was a modest increase in plasminogen activator inhibitor 1 (P=0.002), but it was lower compared with healthy controls and treatment naïve acromegalics (P=0.007). Six month-r-hGH therapy improves body composition, atherogenic lipid profile, QoL, and muscle strength in GHD patients who had acromegaly. Long-term prospective studies are needed to evaluate the effect of r-hGH therapy in these patients.

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Rimesh Pal Department of Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India

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Sanjay Kumar Bhadada Department of Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India

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Awesh Singhare Department of Endocrinology, P D Hinduja Hospital and Medical Research Centre, Mumbai, India

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Anil Bhansali Department of Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India

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Sadishkumar Kamalanathan Department of Endocrinology, Jawaharlal Institute of Post Graduate Medical Education and Research, Pondicherry, India

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Manoj Chadha Department of Endocrinology, P D Hinduja Hospital and Medical Research Centre, Mumbai, India

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Phulrenu Chauhan Department of Endocrinology, P D Hinduja Hospital and Medical Research Centre, Mumbai, India

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Ashwani Sood Department of Nuclear Medicine, Post Graduate Institute of Medical Education and Research, Chandigarh, India

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Vandana Dhiman Department of Endocrinology, Post Graduate Institute of Medical Education and Research, Chandigarh, India

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Dinesh Chandra Sharma Division of Endocrinology, Rabindranath Tagore Medical College, Udaipur, India

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Uma Nahar Saikia Department of Histopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India

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Debajyoti Chatterjee Department of Histopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India

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Vikas Agashe Department of Orthopaedics, P D Hinduja Hospital and Medical Research Centre, Mumbai, India

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Tumor-induced osteomalacia (TIO) is a rare paraneoplastic syndrome characterized by recalcitrant hypophosphatemia. Reports from the Indian subcontinent are scarce, with most being single center experiences involving few patients. Herein, we conducted a retrospective analysis of 30 patients of TIO diagnosed at three tertiary care hospitals in India. Patients with persistent hypophosphatemia (despite correction of hypovitaminosis D), normocalcemia, elevated alkaline phosphatase, low TmP/GFR and elevated or ‘inappropriately normal’ FGF23 levels were labeled as having TIO. They were sequentially subjected to functional followed by anatomical imaging. Patients with a well-localized tumor underwent excision; others were put on phosphorous and calcitriol supplementation. The mean age at presentation was 39.6 years with female:male ratio of 3:2. Bone pain (83.3%) and proximal myopathy (70%) were the chief complaints; 40% of cases had fractures. The mean delay in diagnosis was 3.8 years. Tumors were clinically detectable in four patients (13.3%). The mean serum phosphate was 0.50 mmol/L with a median serum FGF23 level of 518 RU/mL. Somatostatin receptor-based scintigraphy was found to be superior to FDG-PET in tumor localization. Lower extremities were the most common site of the tumor (72%). Tumor size was positively correlated with serum FGF23 levels. Twenty-two patients underwent tumor resection and 16 of them had phosphaturic mesenchymal tumors. Surgical excision led to cure in 72.7% of patients whereas disease persistence and disease recurrence were seen in 18.2% and 9.1% of cases, respectively. At the last follow-up, serum phosphate in the surgically treated group was significantly higher than in the medically managed group.

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Ghazala Zaidi Departments of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

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Vijayalakshmi Bhatia Departments of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

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Saroj K Sahoo Departments of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

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Aditya Narayan Sarangi Departments of Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

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Niharika Bharti Departments of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

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Li Zhang Department of Immunology, Barbara Davis Centre for Childhood Diabetes, Denver, USA

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Liping Yu Department of Immunology, Barbara Davis Centre for Childhood Diabetes, Denver, USA

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Daniel Eriksson Department of Medicine (Solna), Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden

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Sophie Bensing Department of Molecular Medicine and Surgery, Karolinska Institutet, and Department of Endocrinology, Metabolism and Diabetes, Karolinska University Hospital, Stockholm, Sweden

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Olle Kämpe Department of Medicine (Solna), Karolinska University Hospital, Karolinska Institutet, Stockholm, Sweden
Science for Life Laboratory, Department of Medical Sciences, Uppsala University, Sweden

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Nisha Bharani Department of Endocrinology, Amrita Institute of Medical Sciences, Kochi, India

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Surendra Kumar Yachha Departments of Paediatric Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

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Anil Bhansali Department of Endocrinology, Postgraduate Institute of Medical Education and Research, Chandigarh, India

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Alok Sachan Department of Endocrinology, Sri Venkateshwara Institute of Medical Sciences, Tirupathi, India

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Vandana Jain Department of Paediatrics, All India Institute of Medical Sciences, New Delhi, India

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Nalini Shah Department of Endocrinology, King Edward Memorial Hospital, Seth GS Medical College, Mumbai, India

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Rakesh Aggarwal Departments of Gastroenterology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

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Amita Aggarwal Departments of Clinical Immunology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

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Muthuswamy Srinivasan Departments of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

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Sarita Agarwal Departments of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

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Eesh Bhatia Departments of Endocrinology, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India

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Objective

Autoimmune polyendocrine syndrome type 1 (APS1) is a rare autosomal recessive disorder characterized by progressive organ-specific autoimmunity. There is scant information on APS1 in ethnic groups other than European Caucasians. We studied clinical aspects and autoimmune regulator (AIRE) gene mutations in a cohort of Indian APS1 patients.

Design

Twenty-three patients (19 families) from six referral centres in India, diagnosed between 1996 and 2016, were followed for [median (range)] 4 (0.2–19) years.

Methods

Clinical features, mortality, organ-specific autoantibodies and AIRE gene mutations were studied.

Results

Patients varied widely in their age of presentation [3.5 (0.1–17) years] and number of clinical manifestations [5 (2–11)]. Despite genetic heterogeneity, the frequencies of the major APS1 components (mucocutaneous candidiasis: 96%; hypoparathyroidism: 91%; primary adrenal insufficiency: 55%) were similar to reports in European series. In contrast, primary hypothyroidism (23%) occurred more frequently and at an early age, while kerato-conjunctivitis, urticarial rash and autoimmune hepatitis were uncommon (9% each). Six (26%) patients died at a young age [5.8 (3–23) years] due to septicaemia, hepatic failure and adrenal/hypocalcaemic crisis from non-compliance/unexplained cause. Interferon-α and/or interleukin-22 antibodies were elevated in all 19 patients tested, including an asymptomatic infant. Eleven AIRE mutations were detected, the most common being p.C322fsX372 (haplotype frequency 37%). Four mutations were novel, while six others were previously described in European Caucasians.

Conclusions

Indian APS1 patients exhibited considerable genetic heterogeneity and had highly variable clinical features. While the frequency of major manifestations was similar to that of European Caucasians, other features showed significant differences. A high mortality at a young age was observed.

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