Demographic and Clinical Characteristics of Patients with Adrenal Incidentaloma from a Single Center in South India: A Retrospective Study.

CONTEXT: Adrenal incidentalomas (AIs) are relatively uncommon neoplasms in 2% of apparently healthy individuals requiring evaluation for functionality and malignancy. AIM: We aimed to study the clinical, biochemical, and radiological profiles of patients presenting with AI and histopathological outcomes of those undergoing adrenalectomy. Materials and Methods: This retrospective study enrolled 62 AI patients attending a tertiary care center in South India between January 2016 and October 2023. Demographic details, radiological features, functionality, and histopathological data were analyzed. RESULTS: Out of 62 patients, total masses evaluated were 65 indicating bilaterality in 3 patients. The female: male ratio was 1.69, with a median age of 55 years (interquartile range: 44-64 years). 45.1% of individuals were >60 years. The most common indication for imaging was pain abdomen in 43 (69.4%). The median size was 3.2 cm. Fifty-five (88.7%) were assessed for functionality and 27 (49.1%) were functional. Among the 62 individuals, 14 (20.2%) had hypercortisolism, 11 (15.9%) had pheochromocytoma, 5 (7.24%) had primary hyperaldosteronism (PA), and 4 (5.7%) had hyperandrogenism including plurihormonal in 7. A mass size of 3.2 cm was of great value in distinguishing functional tumors with a sensitivity of 72% and specificity of 66% with an area under the curve of 0.682. A total of 34 (54.8%) patients underwent adrenalectomy. On histopathological examination, Adenoma (44.1%) was the most common followed pheochromocytoma (26.5%), adrenal cysts (8.8%), and Myelolipoma (5.9%). Two (5.9%) incidentalomas were adrenocortical carcinoma (ACC). Eight (53.3%) adenomas were functional with 6 having hypercortisolism (including 1 with hyperandrogenism) and 2 with PA. CONCLUSION: In our experience, the incidence of pheochromocytoma was second most common after adenoma. Since most functional tumors (60%) and all ACCs were ≥4 cm, a thorough biochemical evaluation for hormonal excess and evaluation for malignancy followed by surgery should be considered for lesions, especially ≥4 cm. Thus, we report the baseline demographic and clinical characteristics of patients with AI from a single center in South India.

Résumé Contexte:Les incidents surrénaliens (AIS) sont des néoplasmes relativement rares chez 2% des individus apparemment en bonne santé nécessitant une évaluation de la fonctionnalité et de la malignité. Objectif: Nous visions à étudier les profils cliniques, biochimiques et radiologiques des patients présentant IA et résultats histopathologiques de ceux qui subissent une surrénalectomie.Matériaux et méthodes:Cette étude rétrospective a inscrit 62 patients AI fréquentant un centre de soins tertiaires dans le sud de l'Inde entre janvier 2016 et octobre 2023. Les détails démographiques, les caractéristiques radiologiques, les fonctionnalités et les données histopathologiques ont été analysés.Résultats:Sur 62 patients, les masses totales évaluées étaient 65 indiquant la bilatéralité chez 3 patients. Le ratio féminin: mâle était de 1,69, avec un âge médian de 55 ans (intervalle interquartile: 44­64 ans). 45,1% des individus étaient> 60 ans. L'indication la plus courante pour l'imagerie était l'abdomen de la douleur dans 43 (69,4%). La taille médiane était de 3,2 cm. Cinquante-cinq (88,7%) ont été évaluées pour les fonctionnalités et 27 (49,1%) étaient fonctionnelles. Parmi les 62 individus, 14 (20,2%) avaient un hypercortisolisme, 11 (15,9%) Le phéochromocytome, 5 (7,24%) avait une hyperaldostéronisme primaire (PA), et 4 (5,7%) avaient l'hyperandrogénisme, y compris le plurihormonal dans 7. Une taille de masse de 3,2 cm était d'une grande valeur dans la distinction des tumeurs fonctionnelles avec une sensibilité de 72% et une spécificité distinctive de 66% avec une zone sous la courbe de 0,682. Au total, 34 (54,8%) patients ont subi une surrénalectomie. À l'examen histopathologique, l'adénome (44,1%) était le phéochromocytome suivi le plus courant (26,5%), les kystes surrénaliens (8,8%) et le myélolipome (5,9%). Deux incidentsalomes (5,9%) étaient un carcinome surrénocortical (ACC). Huit (53,3%) adénomes étaient fonctionnels avec 6 souffrant d'hypercortisolisme (dont 1 avec l'hyperandrogénisme) et 2 avec PA.Conclusion:D'après notre expérience, l'incidence du phéochromocytome était la deuxième plus courante après l'adénome. Étant donné que la plupart des tumeurs fonctionnelles (60%) et tous les ACC étaient ≥ 4 cm, une évaluation biochimique approfondie pour l'excès hormonal et l'évaluation de la malignité suivie d'une chirurgie doivent être envisagées pour les lésions, en particulier ≥4 cm. Ainsi, nous rapportons les caractéristiques démographiques et cliniques de base des patients atteints d'IA d'un seul centre du sud de l'Inde.

A Rare Pituitary Tumor.

Sellar-suprasellar masses, with diverse origins ranging from infiltrative to neoplastic processes, are frequently encountered in endocrinology clinics. Evaluation involves a detailed history, hormone analysis, and imaging of the hypothalamic-pituitary axis. However, overlapping hormonal and imaging features can complicate diagnosis, often necessitating confirmation through tissue biopsy. Pituicytoma, a rare sellar tumor mimicking other masses biochemically and radiologically, exemplifies this challenge. These are benign intracranial neoplasms with characteristic bipolar spindle-shaped astrocytic cells organized in fascicular or storiform patterns with specific immunohistochemistry. The current case is of an elderly postmenopausal woman with a history of hypertension who presented with recurrent headaches and transient vision loss in the left eye. Imaging studies revealed a suprasellar mass, which was biopsied and diagnosed on histopathological examination as a pituicytoma. This case highlights the importance of considering less common etiologies when encountering such presentations.

Predictive factors and the management of hyperglycemia in patients with acromegaly and Cushing's disease receiving pasireotide treatment: post hoc analyses from the SOM230B2219 study.

Introduction: Pasireotide, a somatostatin receptor ligand, is approved for treating acromegaly and Cushing's disease (CD). Hyperglycemia during treatment can occur because of the drug's mechanism of action, although treatment discontinuation is rarely required. The prospective, randomized, Phase IV SOM230B2219 (NCT02060383) trial was designed to assess optimal management of pasireotide-associated hyperglycemia. Here, we investigated predictive factors for requiring antihyperglycemic medication during pasireotide treatment. Methods: Participants with acromegaly or CD initiated long-acting pasireotide 40 mg/28 days intramuscularly (acromegaly) or pasireotide 600 µg subcutaneously twice daily during pre-randomization (≤16 weeks). Those who did not need antihyperglycemic medication, were managed with metformin, or received insulin from baseline entered an observational arm ending at 16 weeks. Those who required additional/alternative antihyperglycemic medication to metformin were randomized to incretin-based therapy or insulin for an additional 16 weeks. Logistic-regression analyses evaluated quantitative and qualitative factors for requiring antihyperglycemic medication during pre-randomization. Results: Of 190 participants with acromegaly and 59 with CD, 88 and 15, respectively, did not need antihyperglycemic medication; most were aged <40 years (acromegaly 62.5%, CD 86.7%), with baseline glycated hemoglobin (HbA1c) <6.5% (<48 mmol/mol; acromegaly 98.9%, CD 100%) and fasting plasma glucose (FPG) <100 mg/dL (<5.6 mmol/L; acromegaly 76.1%, CD 100%). By logistic regression, increasing baseline HbA1c (odds ratio [OR] 3.6; P=0.0162) and FPG (OR 1.0; P=0.0472) and history of diabetes/pre-diabetes (OR 3.0; P=0.0221) predicted receipt of antihyperglycemic medication in acromegaly participants; increasing baseline HbA1c (OR 12.6; P=0.0276) was also predictive in CD participants. Investigator-reported hyperglycemia-related adverse events were recorded in 47.9% and 54.2% of acromegaly and CD participants, respectively, mainly those with diabetes/pre-diabetes. Conclusion: Increasing age, HbA1c, and FPG and pre-diabetes/diabetes were associated with increased likelihood of requiring antihyperglycemic medication during pasireotide treatment. These risk factors may be used to identify those who need more vigilant monitoring to optimize outcomes during pasireotide treatment.

Bone Mineral Density and Bone Turnover Marker in a Subclinical Thyrotoxic State in Young Premenopausal Women.

BACKGROUND: Subclinical thyrotoxicosis (SCH) is characterized by normal serum thyroid hormone levels and low thyrotropin levels. The impact of this condition on the skeletal system may vary depending on its cause, yet the relationship is not fully comprehended in premenopausal women. Studies are scarce about its effects on bone health in our population. OBJECTIVES: This study aims to evaluate the bone mineral density (BMD) and bone turnover markers in premenopausal women with SCH and determine if any differences exist based on the condition's etiology. METHODS: A cross-sectional study was conducted at Ramaiah Medical College involving 36 participants for one year and six months after approval from the Ethics Committee. The carboxy-terminal telopeptide of type I collagen in blood and BMD were measured at the lumbar vertebrae (L1-L4) and femoral neck by dual-energy x-ray absorptiometry (Hologic v 2.0, Hologic, Massachusetts, U.S.). Statistical analysis was done using IBM SPSS Statistics for Windows, Version 20 (Released 2011; IBM Corp., Armonk, New York, United States).  Results: The mean age of the study population was 35.2 ± 7.2 years. The etiology was Graves' disease [n=11 (33.3%)], iatrogenic [n=14(38.8%)], toxic adenoma [n=6 (15.1%)], and multi-nodular goiter [n=5 (15.1%)]. The mean BMI was 23.5 ± 3.8 kg/m2, and the mean levels of corrected calcium, phosphorus, and 25 hydroxy-vitamin D were 9.12 ± 0.25 mg/dl, 2.95 ± 0.34 mg/dl, and 29.4 ± 6.4 ng/ml, respectively. The mean BMD at hip and spine was 0.81 ±0.16 g/cm2 and 0.92±0.08 g/cm2 respectively. The mean Z-score was (-0.02 ± 0.8) and (-0.92± 0.08) at the hip and spine. No significant difference was observed in the BMD at the hip (p = 0.14) or spine (p = 0.44) between the endogenous and exogenous subclinical thyrotoxic subgroups. At the same time, the carboxy-terminal telopeptide of type I collagen was significantly different between the two groups (p<0.05). CONCLUSION: In our cross-sectional study of premenopausal women with SCH, BMD at the hip or spine as measured by dual-energy X-ray absorptiometry did not reveal any significant reduction. The subclinical thyrotoxic state may not have an adverse effect on bone health in premenopausal females with sufficient levels of serum 25-hydroxy-vitamin D in the short term.

Thyroid Eye Disease and Its Association With Diabetes Mellitus: A Major Review.

PURPOSE: Thyroid eye disease (TED) associated with diabetes mellitus (DM) presents unique challenges. DM is a risk factor for TED. Standard management of TED with glucocorticoids (GC), orbital radiation, or teprotumumab can cause adverse events in poor glycemic control. The authors reviewed the literature on the relationship between TED and DM and the management of co-existing diseases. METHODS: The authors searched PubMed with keywords "thyroid eye disease," "diabetes mellitus," and similar terms from 2013 to 2022. The authors included relevant studies after screening the abstracts. Additional references to the selected studies were included where applicable. Data were extracted from the final articles according to the preplanned outline of the review. RESULTS: The initial search yielded 279 abstracts. The final review included 93 articles. TED and DM interact at multiple levels-genetic, immunologic, cellular, nutritional, and metabolic. Both DM and thyroid dysfunction exacerbate the morbidity caused by the other. Metabolic factors also affect the inflammatory pathway for TED. Patients with DM develop TED with greater frequency and severity, necessitating interventions for vision salvage. Agents (GC, teprotumumab, or radiation) used for TED are often unsuitable for treatment with DM, especially if there is poor glycemic control or diabetic retinopathy. There were no studies on using steroid-sparing agents in TED with DM. CONCLUSION: TED and DM co-exist because of multiple intersections in the pathophysiology. Challenges in the treatment include increased TED severity and risk of hyperglycemia and retinopathy. Multidisciplinary teams best undertake treatment of TED with DM.

Pheochromocytoma: Clinical Experience From a Single Tertiary Care Center in India.

INTRODUCTION: Pheochromocytoma is a catecholamine-secreting tumor arising from adrenomedullary chromaffin cells that has a varied clinical presentation. Identification of this tumor, which has episodic symptoms, is a diagnostic challenge for clinicians. Diagnosis at an appropriate time is important because it is associated with significant morbidity and mortality. This study aims to mitigate the limited availability of data in our geographical area. AIMS AND OBJECTIVES: To assess the clinical, biochemical, and radiological features and outcomes of patients diagnosed with pheochromocytoma at our center. MATERIALS AND METHODS: This is a retrospective study. Patients diagnosed with pheochromocytoma during 2015-2023 were included in the study. Clinical, biochemical, and radiological data were collected at presentation, post-surgery, discharge, and until the last follow-up; data were retrieved from hospital records. Statistical analysis was done using IBM Corp. Released 2011. IBM SPSS Statistics for Windows, Version 20.0. Armonk, NY: IBM Corp. RESULTS: This study included 19 patients, of whom 10 (52.6%) were female. The most common clinical presentation was a hypertensive crisis in patients with pre-existing hypertension (63.1%), followed by headache (47.3%). The classical triad of headache, palpitation, and sweating was seen in only three patients (15.7%). The mean tumor size was 5.01±2.06 cm, with a range of 2.5 to 12 cm. All patients underwent adrenalectomy; six patients (31.5%) had perioperative complications, with post-operative hypotension being the most common at 21% (n = 4), followed by an acute coronary event during alpha blockade in one patient (0.05%) and an intra-operative hypertensive crisis in one patient (5%). A biochemical remission rate post-surgery was achieved in 17 (89.47%) patients. CONCLUSIONS: Hypertensive crisis in patients with pre-existing hypertension was the predominant presenting feature in most of our patients. Female predominance was noted (52.3%) compared to males. Perioperative complications were observed in 31.5% of patients, with post-operative hypotension being the most common complication.

Angiotensin Receptor-Neprilysin Inhibitor Therapy and Cardiac Remodeling in Heart Failure: Consensus Statement from India.

Adverse cardiac remodeling refers to progressive structural and functional modifications in the heart because of increased wall stress in the myocardium, loss of viable myocardium, and neurohormonal stimulation. The guideline-directed medical therapy for Heart failure (HF) includes Angiotensin receptor-neprilysin inhibitor (ARNI) (sacubitril/valsartan), ß-blockers, sodium-glucose co-transporter 2 (SGLT2) inhibitors, and mineralocorticoid receptor antagonists (MRA). ARNI is under-prescribed in India despite its attractive safety and efficacy profile. Therefore, the consensus discusses objectives and topics related to ARNI in the management of cardiac remodeling, and experts shared their views on the early timely intervention of effective dosage of ARNI to improve the diagnosis and enhance mortality and morbidity benefits in cardiac reverse remodeling (CRR).

Role of Iron Therapy in Heart Failure: A Consensus Statement from India.

Iron deficiency (ID) with or without anemia is frequently observed in patients with heart failure (HF). Uncorrected ID is associated with higher hospitalization and mortality in patients with acute HF (AHF) and chronic HF (CHF). Hence, in addition to chronic renal insufficiency, anemia, and diabetes, ID appears as a novel comorbidity and a treatment target of CHF. Intravenous (IV) ferric carboxymaltose (FCM) reduces the hospitalization risk due to HF worsening and improves functional capacity and quality of life (QOL) in HF patients. The current consensus document provides criteria, an expert opinion on the diagnosis of ID in HF, patient profiles for IV FCM, and correct administration and monitoring of such patients.

IDEA Group Consensus Statement on Medical Management of Adult Gender Incongruent Individuals Seeking Gender Affirmation as Male.

Gender-affirming hormone therapy (GAHT) is the most frequent treatment offered to gender-incongruent individuals, which reduces dysphoria. The goal of therapy among gender-incongruent individuals seeking gender affirmation as male is to change their secondary sex characteristics to affect masculine physical appearances. GAHT greatly improves mental health and quality of life among gender incongruent individuals. India-specific guideline for appropriate care for gender-incongruent individuals is almost absent. This document is intended to assist endocrinologists and other healthcare professionals interested in gender incongruity for individuals seeking gender affirmation as male. A safe and effective GAHT regimen aims to effect masculinising physical features without adverse effects. In this document, we offer suggestions based on an in-depth review of national and international guidelines, recently available evidence and collegial meetings with expert Indian clinicians working in this field. Clinicians represented in our expert panel have developed expertise due to the volume of gender incongruent individuals they manage. This consensus statement provides protocols for the hormone prescribing physicians relating to diagnosis, baseline evaluation and counselling, prescription planning for masculinising hormone therapy, choice of therapy, targets for monitoring masculinising hormone therapy, clinical and biochemical monitoring, recommending sex affirmation surgery and peri-operative hormone therapy. The recommendations made in this document are not rigid guidelines, and the hormone-prescribing physicians are encouraged to modify the suggested protocol to address emerging issues.

IDEA Group Consensus Statement on Medical Management of Adult Gender Incongruent Individuals Seeking Gender Reaffirmation as Female.

Cross sex hormone therapy (CSHT) is a strongly desired medical intervention for gender incongruent individuals. The goal is to change secondary sex characteristics to facilitate gender presentation that is consistent with the desired sex. When appropriately prescribed CSHT can greatly improve mental health and quality of life for gender incongruent individuals. Appropriate care for gender incongruent individuals in India is almost absent due to lack of country specific guideline and lack of training amongst the medical professionals. This document is intended to assist endocrinologists and physicians whose adult gender incongruent client is seeking gender reaffirmation as female (transfeminine). These individuals require a safe and effective CSHT regimen that will suppress endogenous male hormone secretion and maintain physiologic levels of female sex hormone. In this document, we offer suggestions based on an in-depth review of Guidelines of Endocrine Society, The World Professional Association for Transgender Health guidelines, the Sappho Good Practice Guide of India and collegial meetings with expert Indian clinicians working in this field. Clinicians represented in our expert panel are not gender specialists by training but have developed expertise due to the volume of gender incongruent individuals they manage. This consensus statement on medical management provides protocols for the prescribing clinician relating to diagnosis, baseline evaluation and counselling, prescription planning for feminizing hormone therapy and anti-androgen therapy, targets for monitoring hormone therapy, choice of therapy, clinical and biochemical monitoring, recommending sex reaffirmation surgery and peri-operative hormone therapy. The recommendations made in this document should not be perceived as a rigid set of guidelines and the treating clinicians are encouraged to modify our suggested protocols to address emerging issues.

Spectrum of phenotype and genotype of congenital isolated hypogonadotropic hypogonadism in Asian Indians.

BACKGROUND: Congenital isolated hypogonadotropic hypogonadism (IHH) is caused due to defect in GnRH neuronal development, migration and action. Although genetic aetiology of IHH is increasingly being studied, Asian Indian data on phenotypic spectrum and genetic basis are scarce. OBJECTIVE: To investigate the phenotypic and genotypic spectrum of IHH in Asian Indian subjects. DESIGN, SETTING AND SUBJECTS: A cohort of 135 IHH probands were characterized phenotypically for reproductive and nonreproductive features and screened for rare sequence variations (RSVs) in five genes KAL1, FGFR1, FGF8, GNRHR and KISS1R. RESULT: Of 135 probands [56 normosmic IHH (nIHH) and 79 Kallmann syndrome (KS)], 20 were familial cases. KS group had more male dominance (M:F ratio of 8:1) as compared to nIHH group (M:F ratio of 1·5:1). Complete absence of puberty was more prevalent in KS probands (81% in KS vs 46% in nIHH). The prevalence of MRI abnormalities was more in anosmic group (92·8%) as compared to hyposmic (37·5%) and normosmic groups (15·4%). No particular nonreproductive phenotypic predominance was seen in any group. Genotyping revealed rare sequence variation (RSV) detection rate of 15·5% in five genes studied: (KAL1 - 4·4%, FGFR1 - 4·4%, GNRHR - 6·7%, oligogenicity - 1·5%). Prevalence of RSV was more common in familial cases (35%) as compared to sporadic (12·2%). GNRHR RSV p.C279Y (not reported in patients of ethnicities other than south Asians) was recurring in four unrelated patients. CONCLUSION: In our cohort, 60% were KS with majority of males and a severe reproductive phenotype as against nIHH. Contribution of the genetic burden for the five genes studied was 15·5%. RSV p.C279Y in GNRHR may have a founder effect originating from south Asia. This study provides a model for molecular and phenotypic representation of Asian Indian subjects with IHH.

Insulinoma case series: Experience of a tertiary care center.

BACKGROUND: Insulinomas are usually solitary; benign and encapsulated small lesions and majority of them measure <2 cm in diameter. They pose a challenge for pre-operative localization. Definitive treatment is surgical excision of the tumor. Intra-operative ultrasonography (IOUS), transhepatic portal venous sampling (THPVS) and positron emission tomography (PET) scan can be done for tumors not localized by conventional imaging modalities. MATERIALS AND METHODS: A retrospective study of patients diagnosed with insulinoma during the period 2004-2012 (8 years) was done. Biochemical diagnostic criteria used were plasma concentrations of glucose <55 mg/dl with corresponding insulin level >3.0 µU/ml (18 pmol/L) and C-peptide of >0.6 ng/ml (0.2 nmol/L). The localization of the tumor was done by various modalities namely computed tomography (CT), magnetic resonance imaging (MRI), IOUS, PET and portal venous sampling. The initial localizing technique in most of these patients were CT or MRI imaging, or both and those who were not localized by the above modalities were subjected to PET CT or THPVS or intra-operative ultrasound depending on the initial imaging results and patient's consent. All the modalities were not used in the same patient, but the modalities were decided as per the imaging results, patient's consent and affordability for the procedure. RESULTS: Ninteen cases of insulinoma aged between 10 and 66 years, with a median age of 47 years were included in the analysis. There were 10 males and nine females. Eighty-three percent of patients presented with pre-prandial hypoglycemia (n = 15). Different modalities were employed for pre-operative localization of these patients out of which 5 (26.31%) cases were localized with CT, 5 (26.31) cases with MRI, 5 (26.31%) with THPVS, 1 (5.26%) case with PET CT, 3 (15.78%) of them could not be localized out of which 2 (10.52%) were localized by IOUS and 1 (5.26%) case the lesion could not be localized. Among 19 cases, 12 underwent surgery out of which one patient underwent distal pancreatectomy as tumor was not localized; eight underwent laparoscopic enucleation; three of them required intra-operative exploration and seven of them were not operated, as they did not give consent for surgery. In all the cases, the size of the insulinoma ranged between 1 and 2 cm. CONCLUSION: We report our experience with 19 cases of insulinoma and analyze the role of pre- and intra-operative imaging modalities in the surgical management of insulinomas. Most of our cases were symptomatic, and the most common presentation was with pre-prandial hypoglycemia. THPVS, PET scan and intra-operative ultrasound added to diagnostic sensitivity in some cases not localized by CT or MRI.

Lymphocytic hypophysitis masquerading as pituitary adenoma.

INTRODUCTION: Pituitary hypophysitis (PH) is characterized by pituitary infiltration of lymphocytes, macrophages, and plasma cells that could lead to loss of pituitary function. Hypophysitis may be autoimmune or secondary to systemic diseases or infections. Based on the histopathological findings PH is classified into lymphocytic, granulomatous, xanthomatous, mixed forms (lymphogranulomatous, xanthogranulomatous), necrotizing and Immunoglobulin- G4 (IgG4) plasmacytic types. OBJECTIVE: To report a case of lymphocytic hypophysitis (LH). CASE REPORT: A 15-year-old girl presented with history of headache, amenorrhea, and history of polyuria for past 4 months. Initial evaluation had suppressed follicular stimulating hormone (<0.01 mIU/ml), high prolactin levels (110.85 ng/ml) and diabetes insipidus (DI). Magnetic resonance imaging of sella was suggestive of pituitary macroadenoma with partial compression over optic chiasma. Patient underwent surgical decompression. Yellowish firm tissue was evacuated and xanthochromic fluid was aspirated. Histopathology was suggestive of LH. She resumed her cycles postoperatively after 4 months, prolactin levels normalized, however, she continues to have DI and is on desmopressin spray. This case has been presented here for its rare presentation in an adolescent girl because it is mostly seen in young females and postpartum period and its unique presentation as an expanding pituitary mass with optic chiasma compression. CONCLUSION: Definitive diagnosis of LH is based on histopathological evaluation. Therapeutic approach should be based on the grade of suspicion and clinical manifestations of LH.

Vitamin D deficiency presenting like hypophosphatemic osteomalacia.

INTRODUCTION: Osteomalacia is one of the most common osteometabolic diseases. It is typically caused by lack of vitamin D and is characterized by mineralization deficiency of the osteoid matrix in the cortical and trabecular bone. Indians are at particularly high risk for developing osteomalacia, because of their traditional clothing style and skin color. This condition is frequently misdiagnosed and it can present with bone pain and muscle weakness. OBJECTIVE: We report a case of osteomalacia with predominant hypophosphatemia. CASE REPORT: A 41-year-old male presented with gradually progressive quadriparesis for past 6 months. Patient had low phosphorous (1.9 mg/dl) with calcium being 8.1 mg/dl and 25(OH)Vitamin D3 levels being 8.12 ng/ml. The patient was thought to have concomitant Vitamin D deficiency with possibility of tumor-induced osteomalacia. Further evaluation for the same was planned. However, patient was given a trial of Vitamin D supplementation before further investigations and had dramatic improvement in the form that muscle power improved gradually over next 6 weeks and was able to climb stairs after 2 months. Retrospectively patient gave a history of being at home for many months and there was no exposure to sunlight at all. The biochemical parameters normalized within 4 weeks of starting Vitamin D and serum alkaline phosphatase showed drastic reduction after 6 weeks. All his family members were screened and found to have Vitamin D deficiency including recent born twins having rachitic changes. This was a case of vitamin D deficiency, in 41-year-old male, which presented more like hypophosphatemic osteomalacia but characteristic history of lack of sunlight exposure and dramatic improvement with only vitamin D3 supplementation confirmed the diagnosis. CONCLUSION: The presentation of vitamin D deficiency can be varied and high index of suspicion is important for treatment of this common but frequently misdiagnosed condition.

Abdominal fat distribution and insulin resistance in Indian women with polycystic ovarian syndrome.

The relationship between insulin resistance and abdominal fat distribution was studied in Indian patients with PCOS. Subcutaneous fat, together with a family history of type 2 diabetes mellitus, was the best marker of insulin resistance.

Study of bone marrow abnormalities in patients with HIV disease.

AIM: Present work was carried out to study the bone marrow abnormalities in patients with HIV/AIDS and to find their association with peripheral hematological abnormalities. METHODS: Seventy four patients of HIV/AIDS were included in the study. The patients had anemia, leucopenia, thrombocytopenia or pyrexia of unknown origin (PUO) as indications for bone marrow examination. A complete blood count, relevant biochemical investigations, HIV RNA load and CD4 positive lymphocyte counts were done, besides a thorough history and clinical examination. HIV positive patients were classified as those having AIDS and those without AIDS according to NACO criteria. RESULTS: Majority of patients (72.9%) had AIDS. Bone marrow was normocellular in 78.95% of non-AIDS and 74.55% of AIDS, hypocellular in 5.26% of non-AIDS and 7.27% of AIDS, hypercellular in 15.79% of non-AIDS and 18.18 % of AIDS patients. Myelodysplasia was present in 21.05% of non AIDS and 36.46% of AIDS and the most common series affected was granulocytic (15.79% of total in non-AIDS and 30.9% in AIDS). Dysplasia was statistically significantly associated with lower CD4 count (p = 0.031) and anemia (p = 0.013). Myelodysplasia was apparent even before patients developed anemia (16.67%). Increased plasma cells in bone marrow were observed in 57.89% of non-AIDS and 65.45% of AIDS, whereas decreased lymphoid cells were seen in 36.84% of non AIDS and 60.00% of AIDS patients. CONCLUSIONS: Myelodysplasia is found in 32.43% of cases of HIV/AIDS and is more common in AIDS than in non AIDS patients. Granulocytic series is most commonly associated with evidence of dysplasia. Myelodysplasia is more common in patients with CD4 count < 200/microl and in patients with anemia. 54.05% of patients had decreased lymphoid cells in bone marrow and it was more commonly seen in AIDS than in non AIDS.

Bone marrow abnormalities in HIV disease.

Bone marrow abnormalities are frequently observed in HIV infected individuals at all stages of the disease. The most common abnormal finding is dysplasia affecting one or more cell lines. Erythroid dysplasia is the most common type of dysplasia and is recognized in over 50% of HIV infected patients, abnormal granulocytic and megakaryocytic development is encountered in one-third of patients. Plasma cells are strikingly increased in bone marrow of HIV infected patients. It may represent a physiological response to antigenic stimulation by viruses, other infective agents or secondary to dysregulated B-cell proliferation due to HIV. Herein we present a review discussing the various bone marrow abnormalities associated with the HIV disease.

HIV disease presenting as parotid lymphoepithelial cysts: a presumptive diagnosis of diffuse infiltrative lymphocytic syndrome (DILS).

Diffuse infiltrative lymphocytic syndrome (DILS), is a rare manifestation of human immunodeficiency virus (HIV) disease which is characterized by a diffuse visceral CD8 lymphocytic infiltration, a persistent CD8 lymphocytosis, bilateral parotid swelling and cervical lymphadenopathy. We describe a case of a HIV positive female, who had bilateral parotid swelling and CD8 lymphocytosis, to illustrate this rare clinical entity.