Clinical Profile and Treatment Outcomes in Patient with Acromegaly Using 14 Acromegaly Consensus Criteria.

Introduction: Acromegaly is a chronic systemic disease characterized by excessive secretion of growth hormone (GH) and insulin-like growth factor 1 (IGF-1). This study reviews our experience with endoscopic transsphenoidal surgery (TSS) in acromegaly patients, focusing on remission rates according to the 2023 consensus criteria.

Methods: We conducted a hospital based, retrospective study involving 42 patients diagnosed with acromegaly who underwent endoscopic TSS, between January 2020 and June 2024.

Ectopic acromegaly with tumoral range hyperprolactinemia and apoplexy with a dramatic regression of pituitary hyperplasia.

Acromegaly due to ectopic secretion of growth hormone-releasing hormone (GHRH) is a rare disorder. The signs and symptoms of ectopic acromegaly are indistinguishable from acromegaly due to a somatotroph adenoma. A 35-year-old female presented with secondary amenorrhea for 10 years, intermittent headache, and reduced vision in both eyes for 4 years, which worsened over 4 months before presentation.

Sellar surprises: a single-centre experience of unusual sellar masses.

Background: Most common incidentally detected sellar-suprasellar region (SSR) masses are pituitary adenomas, followed by craniopharyngioma, rathke's cleft cyst, hypophysitis, and meningioma. Besides these, certain unusual SSR lesions can sometimes present as diagnostic challenges, where diagnosis is often made post-operatively on histopathology, the pre-operative suspicion of which might have influenced the management strategies. Series describing such masses are few.

Genotype-phenotype correlation in paediatric pheochromocytoma and paraganglioma: a single centre experience from India.

Background: Data on genotype-phenotype correlation in children is limited. Hence, we studied the prevalence of germline mutations and genotype-phenotype correlation in children with pheochromocytoma (PCC)/paraganglioma (PGL) and compared it with adult PCC/PGL cohort.

Methods: A total of 121 consecutive, unrelated, index PCC/PGL patients underwent genetic testing for five PCC/PGL susceptibility genes (RET, VHL, SDHB, SDHD and SDHC) and were evaluated for clinical diagnosis of neurofibromatosis type1 (NF1).

Predictors of malignancy in patients with pheochromocytomas/paragangliomas: Asian Indian experience.

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.

Germline mutations and genotype-phenotype correlation in Asian Indian patients with pheochromocytoma and paraganglioma.

Background: Genetic aetiology of pheochromocytoma (PCC) and paraganglioma (PGL) is increasingly being studied; however, Asian Indian data on this aspect are scarce.

Objective: To study the prevalence of germline mutations and genotype-phenotype correlation in Asian Indian PCC/PGL patients.

Design: In this study, 150 index patients (M:F, 73:77) with PCC/PGL were evaluated.

Is it worthwhile to screen patients with type 2 diabetes mellitus for subclinical Cushing's syndrome?

Variable prevalence of subclinical Cushing's syndrome (SCS) has been reported in patients with type 2 diabetes mellitus (T2DM), making the need for screening in this population uncertain. It is unknown if this variability is solely due to study-related methodological differences or a reflection of true differences in ethnic predisposition. The objective of this study is to explore the prevalence of SCS in Asian Indian patients with T2DM.

OVOTESTICULAR DISORDER OF SEX DEVELOPMENT: A SINGLE-CENTER EXPERIENCE.

Objective: Ovotesticular disorder of sex development (OT DSD) is a rare disorder of sex development characterized by the presence in the same individual of both histologically proven testis and ovary. There are scant data from the Indian subcontinent regarding this disorder. The aim of this study was to describe the clinical, biochemical, imaging, cytogenetic, surgical, and histopathologic findings and outcomes of patients with OT DSD from Western India.

Comparison of 131I-MIBG, 68Ga-DOTANOC PET/CT and 18F-FDG PET/CT scans in a patient with extra adrenal paraganglioma associated with SDH-B gene mutation.

Paragangliomas (PGLs) due to succinate dehydrogenase subunit B (SDH-B) mutation can be aggressive. A 40-year-old woman with normetanephrine-secreting, extra-adrenal, abdominal PGL due to SDH-B genetic mutation underwent surgical excision of primary, followed by whole-body I-MIBG scan after 6 months, which showed no abnormality. However, Ga-DOTANOC and F-FDG PET/CT scans showed primary site recurrence, hepatic and skeletal metastasis, with latter scan revealing more lesions.

PITUITARY GIGANTISM--EXPERIENCE OF A SINGLE CENTER FROM WESTERN INDIA.

Objective: Limited data are available on pituitary gigantism, as it is a rare disorder. This study was carried out to assess the clinical, hormonal, and radiologic profiles and management outcomes of patients with pituitary gigantism.

Methods: We conduced a retrospective analysis of 14 patients with pituitary gigantism who presented to a single tertiary care institute from 1990 to 2014.

PRIMARY ADRENAL LYMPHOMA: A SINGLE-CENTER EXPERIENCE.

Objective: To describe the clinical presentation, biochemistry, imaging features, and treatment outcome of patients with primary adrenal lymphoma (PAL) presenting to a single tertiary care center.

Methods: We performed a retrospective analysis of case records of 7 patients diagnosed with PAL between January 2011 and May 2014 at our institution in Mumbai, India.

Results: Median age of presentation in our series was 48 years (range, 41 to 60 years), with a male to female ratio of 6:1.

An unusual case of ectopic ACTH syndrome due to primary retroperitoneal carcinoid.

A 37-year-old woman with clinical and biochemical features of ectopic adrenocorticotropic hormone (ACTH) syndrome underwent 68Ga DOTANOC PET/CT to localize the source of ectopic ACTH secretion. The images showed 35 × 45-mm retroperitoneal mass with significantly increased tracer uptake. Plasma-free metanephrines and serum chromogranin levels were normal.

The performance and reproducibility of late-night salivary cortisol estimation by enzyme immunoassay for screening Cushing disease.

Objective: Our study aimed to establish a local reference range for late-night salivary cortisol (LNSC) using enzyme immunoassay (EIA) and to study the intra-individual reproducibility of LNSC.

Methods: Prospective study involving 30 healthy subjects (HS) with body mass index (BMI) <25 kg/m2, 37 obese/overweight subjects (OS) with BMI >25 kg/m2 and 28 patients with Cushing disease (CD). Salivary sampling was performed on 2 consecutive nights and assayed by EIA.

A novel gross indel in the growth hormone releasing hormone receptor gene of Indian IGHD patients.

Context: Cohort specific mutations in the growth hormone (GH1) and growth hormone-releasing hormone receptor (GHRHR) genes have been reported worldwide in isolated growth hormone deficiency (IGHD) patients. However, limited data is available on ethnically diverse Indian IGHD patients.

Objective: The aim of the study was to find GH1 and GHRHR gene mutations in Indian IGHD patients from two unrelated non-consanguineous families.

Radiofrequency ablation, an effective modality of treatment in tumor-induced osteomalacia: a case series of three patients.

Context: Tumor-induced osteomalacia is curable if the tumors can be totally excised. However, when the tumors are present in locations that make surgery disproportionately risky, the need for less invasive strategies like radiofrequency ablation (RFA) is realized.

Patients And Methods: We describe three patients with suspected tumor-induced osteomalacia who were treated in our department between 2006 and 2013 with tumors in surgically difficult locations and were subjected to single or multiple sessions of RFA.

18F-FDG PET as a monitoring tool to assess treatment response in bilateral adrenal histoplasmosis.

A 60-year-old woman with clinical and biochemical features suggestive of adrenal insufficiency was found to have bilateral adrenal masses on CT scan and was subjected to F-FDG PET scan. The scan showed hypermetabolic mediastinal nodes in addition to intense tracer uptake in bilateral adrenal masses. CT-guided adrenal biopsy grew Histoplasma capsulatum on Sabouraud dextrose agar culture.

Clinical, biochemical and imaging characteristics of Cushing's macroadenomas and their long-term treatment outcome.

Objective: Cushing's macroadenoma as a cause of Cushing's disease is less common than microadenoma. The data on nature and behaviour of Cushing's macroadenoma are limited to a few case series. We studied clinical, biochemical and imaging characteristics of macroadenoma and their long-term treatment outcomes.

Functional imaging in primary tumour-induced osteomalacia: relative performance of FDG PET/CT vs somatostatin receptor-based functional scans: a series of nine patients.

Context: Localization of phosphatonin-producing mesenchymal tumours in patients with primary tumour-induced osteomalacia (pTIO) is challenging. Functional imaging plays an important role in the localization of these tumours.

Objective: We studied the relative performance of different functional imaging modalities ((18) F-FDG PET/CT, (99) Tc-HYNIC-TOC SPECT/CT and (68) Ga-DOTATATE PET/CT) in tumour localization in cases of pTIO.

Pheochromocytoma and tetralogy of Fallot: a rare but potentially dangerous combination.

Objective: To describe a case of pheochromocytoma (PHEO) with tetralogy of Fallot (TOF) and discuss the difficulties encountered during the management of this patient, with a review of the literature.

Methods: We report the clinical course, imaging, and management issues of our patient and review relevant literature.

Results: A 14-year-old female who was known to have TOF presented with classical paroxysmal symptoms and worsening dyspnea.