A case of Liddle's syndrome; unusual presentation with hypertensive encephalopathy.

Liddle's syndrome is a rare cause of secondary hypertension. Identification of this disorder is important because treatment differs from other forms of hypertension. We report an interesting case of a 35-year-old lady, a known diabetic and hypertensive patient, who presented with features of hypertensive encephalopathy. The family history was unremarkable. Past treatment with various combinations of antihypertensive medications including spironolactone, all at high doses, failed to control her blood pressure. Upon evaluation, the patient had hypokalemic alkalosis, low 24-h urine potassium and suppressed plasma renin activity. Although these findings were similar to hyperaldosteronism, plasma aldosterone was lower than the normal range. Blood pressure decreased markedly after administration of amiloride. Along with hyporeninemic hypo-aldosteronism, the non-responsiveness to spironolactone and good response to amiloride established the diagnosis of Liddle's syndrome.

Genetic analysis of a family with complete androgen insensitivity syndrome.

Androgen insensitivity causes impaired embryonic sex differentiation leading to developmental failure of normal male external genitalia in 46 XY genetic men. It results from diminished or absent biological actions of androgens, which is mediated by the androgen receptor (AR) in both the embryo and secondary sexual development. Mutations in the AR located on the X chromosome are responsible for the disease. Almost 70% of affected individuals inherit the mutation from their carrier mother. We hereby report a 10-year-old girl with all the characteristics of complete androgen insensitivity syndrome (CAIS). Similar scenario was observed in 3 maternal aunts, Sequencing of the AR gene in all the family members revealed C 2754 to T transition in exon 6. It was concluded that the C 2754 to T transition rendered the AR incapable of both ligand-binding and activating the transcription and was the cause of CAIS in the patient.

Type 2 diabetes mellitus: An unusual association with Down's syndrome.

Down's syndrome (DS) is known to be associated with autoimmune disease including type 1 diabetes. To the best of our knowledge, there are no reports of DS with type 2 diabetes mellitus in the literature. We hereby report two cases of DS with type 2 diabetes.

Surgical revascularization techniques for diabetic foot.

Diabetes is an important risk factor for atherosclerosis. The diabetic foot is characterized by the presence of arteriopathy and neuropathy. The vascular damage includes non-occlusive microangiopathy and macroangiopathy. Diabetic foot wounds are responsible for 5-10% of the cases of major or minor amputations. In fact, the risk of amputation of the lower limbs is 15-20% higher in diabetic populations than in the general population. The University of Texas classification is the reference classification for diabetic wounds. It distinguishes non-ischemic wounds from ischemic wounds which are associated with a higher rate of amputation. The first principles of treatment are the control of pain of an eventual infection. When ischemia is diagnosed, restoration of pulsatile blood flow by revascularization may be considered for salvaging the limb. The treatment options are angioplasty with or without stenting and surgical bypass or hybrid procedures combining the two. Distal reconstructions with anastomosis to the leg or pedal arteries have satisfactory limb-salvage rates. Subintimal angioplasty is a more recent endovascular technique. It could be suggested for elderly patients who are believed to be unsuitable candidates for a conventional bypass or angioplasty. The current article would focus on the various revascularization procedures.

Fetal endocrinology.

Successful outcome of pregnancy depends upon genetic, cellular, and hormonal interactions, which lead to implantation, placentation, embryonic, and fetal development, parturition and fetal adaptation to extrauterine life. The fetal endocrine system commences development early in gestation and plays a modulating role on the various physiological organ systems and prepares the fetus for life after birth. Our current article provides an overview of the current knowledge of several aspects of this vast field of fetal endocrinology and the role of endocrine system on transition to extrauterine life. We also provide an insight into fetal endocrine adaptations pertinent to various clinically important situations like placental insufficiency and maternal malnutrition.

Carotid intima media thickness in type 2 diabetes mellitus with ischemic stroke.

BACKGROUND: Diabetes mellitus is associated with high cardiovascular risk. Carotid intima media thickness (CIMT) is used commonly as a noninvasive test for the assessment of degree of atherosclerosis. The objective of this study was to find out the cut-off point for CIMT for ischemic stroke in patients with type 2 diabetes mellitus (T2DM) and to correlate CIMT with various parameters like smoking, hypertension, lipid profile and duration of T2DM. MATERIALS AND METHODS: A total of 80 subjects in the age group of 30-75 years (M:F = 57:23) were selected and divided into three groups, i.e. diabetes with ischemic stroke, diabetes and healthy subjects. All the participants were subjected to B-mode ultrasonography of both common carotid arteries to determine CIMT, along with history taking, physical examination and routine laboratory investigations including included fasting and 2-hour postprandial blood sugar, blood urea, serum creatinine, lipid profile, glycated hemoglobin, and microalbuminuria. RESULTS: Patients with T2DM with or without ischemic stroke were found to have significantly higher prevalence of increased CIMT and a value greater than 0.8 mm was found to be associated with the occurrence of stroke. The mean carotid IMT of the group as a whole was 0.840 ± 0.2 mm. The mean carotid IMT was not significantly different between T2DM patients with or without ischemic stroke (1.06 ± 0.2 vs. 0.97 ± 0.26 mm, P = 0.08). However, the mean CIMT was significantly higher in diabetic subjects compared to healthy subjects (1.01 ± 0.28 mm vs. 0.73 ± 0.08, P = 0.006). Other parameters like higher age, smoking, hypertension, hyperlipidemia, low HDL cholesterol, the glycemic parameters and the duration of diabetes were independently and significantly related to CIMT. CONCLUSION: A high CIMT is a surrogate and reliable marker of higher risk of ischemic stroke amongst type 2 diabetic patients. Our study demonstrates the utility of carotid IMT as a simple non-invasive screening test for the assessment of atherosclerosis risk/prognosis in type 2 diabetics.

Coexistence of pheochromocytoma with uncommon vascular lesions.

BACKGROUND: Pheochromocytoma/paragangliomas have been described to be associated with rare vascular abnormalities like renal artery stenosis. Coexistence of physiologically significant renal artery lesions is a compounding factor that alters management and prognosis of pheochromocytoma patients. Apart from individual case reports, data on such association in Indian population is not available. The aim of this study is to find the nature and prevalence of associated vascular abnormalities. MATERIALS AND METHODS: From 1990 to 2010, a total of 50 patients were diagnosed with pheochromocytoma/paragangliomas. Hospital charts of these patients were reviewed retrospectively to identify those with unusual vascular abnormalities. Available literature was also reviewed. RESULTS: Of the 50 patients with pheochromocytoma, 7 (14%) had coexisting vascular lesions including renal artery stenosis in 4, aortoarteritis in 1, aortic aneurysm in 1 and inferior vena cava thrombosis in 1. Pheochromocytoma was adrenal in 42 and extra adrenal in 8. Laparoscopic adrenalectomy was done in the patients. One patient with renal artery stenosis due to intimal fibrosis was subjected to percutaneous balloon angioplasty; the other three improved after adrenalectomy and lysis of fibrous adhesive bands. The patient with aortoarteritos was treated with oral steroids. Inferior vena cava thrombosis was reversed with anticoagulants. The patient with abdominal aortic aneurysm was advised for annual follow-up on account of its size of 4.5 cm and asymptomatic presentation. CONCLUSION: There are multiple mechanisms that can lead to renal artery stenosis and other vascular abnormalities in a case of pheochromocytoma. A high index of suspicion is necessary to enable both entities to be diagnosed preoperatively and allow proper planning of surgical therapy. Incomplete diagnosis may lead to persistent hypertension postoperatively in a case of associated renal artery stenosis.

Sturge-Weber syndrome: presentation with partial hypopituitarism.

Sturge-Weber syndrome (SWS) is a rare disorder involving central nervous system abnormalities. It manifests with a facial port-wine birthmark and a vascular malformation of the brain. Infants and children present with seizures and stroke-like episodes with focal neurologic deficits. Patients with Sturge-Weber syndrome carry the additional risk of developing hypothalamic-pituitary dysfunction, secondary to their central nervous system dysfunction. Although one would suspect the hypothalamic-pituitary axis would be at risk for impairment given the abnormalities that often occur in Sturge-Weber syndrome, they are not commonly recognized by clinicians. Increased awareness of this potential complication in patients with this rare disease of Sturge-Weber syndrome is needed. We hereby report a case of SWS with partial hypopituitarism and consider it to be important that these patients should undergo routine evaluation of pituitary function in the face of any relevant clinical manifestations.

Ovarian granulosa cell tumor: An uncommon presentation with primary amenorrhea and virilization in a pubertal girl.

A 16-year-old girl presented with primary amenorrhea and excess hair growth on her body and face for the last three years, along with pain and a mass in her lower abdomen for last one year. Examination revealed hirsutism and other virilizing features, with an irregular mass in the lower abdomen corresponding to 16 weeks'gestation. Serum testosterone was 320 ng / dl and ultrasonogram of the pelvis revealed a solid mass of 5 × 4 cm in the left adnexa. Suspecting it to be a virilizing tumor of the left ovary, the patient was subjected to staging laparotomy, which revealed stage 1a ovarian involvement amenable to surgical resection alone. Histopathological examination confirmed the diagnosis of granulosa cell tumor of the ovary. Postoperatively the serum testosterone returned to 40 ng / dl and her menstrual cycle started after two months of surgery.

Pheochromocytoma: an uncommon presentation of an asymptomatic and biochemically silent adrenal incidentaloma.

Pheochromocytomas are rare tumours originating from the chromaffin tissue. The clinical manifestations are variable and are not specific; as a result, pheochromocytomas often imitate other diseases. The diagnosis is usually established by biochemical studies, i.e., the measurement of catecholamines or their metabolites in urine or plasma, followed by radiographic and scintigraphic studies for localisation. Surgical removal of the tumour is the preferred treatment. We report a 30-year-old woman presenting with an adrenal incidentaloma that was 7.6 × 5.3 × 4.8 cm in size on an abdominal computed tomography scan. Investigations for adrenal hormones, including a low-dose dexamethasone suppression test, plasma aldosterone level, 24-hour urinary metanephrine and vanillylmandelic acid levels, and plasma metanephrine level were all within the normal ranges. During the surgical resection, the patient had a hypertensive spell. Surgery was postponed, and the blood pressure was adequately controlled with α blockers, followed by ß blockers. After 2 weeks, the surgery was followed by a pathological biopsy that confirmed the pheochromocytoma diagnosis.

Necrobiosis lipoidica diabeticorum: A case-based review of literature.

Necrobiosis lipoidica diabeticorum (NLD) is a rare chronic and granulomatous skin disorder that affects 0.3% of diabetic patients. Although the etiology and pathogenesis of NLD is still controversial, it is thought that microangiopathy has an important role. The legs are the most common site for NLD, but involvement of other areas such as the abdomen, upper extremities and scalp has been reported. There is no rational therapy. However, benefit has been reported from different treatment regimens such as drugs acting on the hemostatic mechanisms, corticosteroid therapy (topical, intralesional and systemic), enhancers of wound healing, surgery and immunomodulating therapies (including photochemotherapy). We report a 59-year-old female, who was a diabetic patient with multiple, disseminated lesions on the legs, which tended to disappear as the glycemic control was achieved. Hereby, we also review the existing literature for the evolving aspects of etiopathogenesis and treatment.

Dysgerminoma in a female with turner syndrome and Y chromosome material: A case-based review of literature.

We report a 17-year-old girl evaluated for primary amenorrhea. Cytogenetic analysis of the peripheral blood lymphocytes revealed normal autosomes with 46X inv (Y) confirming the diagnosis of Turner's syndrome with Y cell line. Treatment was initiated with conjugated estrogen while recommending bilateral prophylactic oophorectomy to the patient. One year later the patient presented with abdominal mass, biopsy of the specimen following resection confirmed dysgerminoma originating from right ovary with no invasion or metastasis. The literature is reviewed with regard to the various pathogenetic mechanisms proposed for the development of germ cell tumors in ovary, the cytogenetic findings and recommendations to handle such scenario.

Renin-angiotensin system activity in vitamin D deficient, obese individuals with hypertension: An urban Indian study.

BACKGROUND: Elevated renin-angiotensin-aldosterone system (RAAS) activity is an important mechanism in the development of hypertension. Both obesity and 25-hydroxy vitamin D [25(OH)D] deficiency have been associated with hypertension and augmented renin-angiotensin system (RAS) activity. We tried to test the hypothesis that vitamin D deficiency and obesity are associated with increased RAS activity in Indian patients with hypertension. MATERIALS AND METHODS: Fifty newly detected hypertensive patients were screened. Patients with secondary hypertension, chronic kidney disease, or coronary artery disease were excluded. Patients underwent measurement of vitamin D and plasma renin and plasma aldosterone concentrations. They were divided into three groups according to their baseline body mass index (BMI; normal <25 kg/m(2), overweight 25-29.9 kg/m(2) and obese ≥30 kg/m(2)) and 25(OH)D levels (deficient <20 ng/ml, insufficient 20-29 ng/ml and optimal ≥30 ng/ml). RESULTS: A total of 50 (male:female - 32:18) patients were included, with a mean age of 49.5 ± 7.8 years, mean BMI of 28.3 ± 3.4 kg/m(2) and a mean 25(OH)D concentration of 18.5 ± 6.4 ng/ml. Mean systolic blood pressure (SBP) was 162.4 ± 20.2 mm Hg and mean diastolic blood pressure (DBP) was 100.2 ± 11.2 mm Hg. All the three blood pressure parameters [SBP, DBP and mean arterial pressure (MAP)] were significantly higher among individuals with lower 25(OH)D levels. The P values for trends in SBP, DBP and MAP were 0.009, 0.01 and 0.007, respectively. Though all the three blood pressure parameters (SBP, DBP and MAP) were higher among individuals with higher BMIs, they were not achieving statistical significance. Increasing trends in PRA and PAC were noticed with lower 25(OH)D and higher BMI levels. CONCLUSION: Vitamin D deficiency and obesity are associated with stimulation of RAAS activity. Vitamin D supplementation along with weight loss may be studied as a therapeutic strategy to reduce tissue RAS activity in individualswith Vitamin D deficiency and obesity.

Effect of vitamin D supplementation in type 2 diabetes patients with pulmonary tuberculosis.

AIM: Diabetes and vitamin D deficiency are widely prevalent in India. Studies have proven correlation between low vitamin D levels and pulmonary tuberculosis (PTB) and low vitamin D levels and insulin resistance. We evaluated the effects of vitamin D supplementation on type 2 diabetes mellitus patients with pulmonary tuberculosis (PTB). METHODS: Forty-five subjects (M:F=34:11) were screened. Inclusion criteria were age >15 years, newly diagnosed PTB cases with uncontrolled diabetes, serum vitamin D<20 ng/ml. The patients with vitamin D level<20 ng/ml were randomly assigned to 2 groups. Group 1 subjects received oral cholecalceferol (60,000 units/week) and calcium carbonate (1g/day) along with anti tubercular treatment (ATT), while group 2 subjects did not. Sputum was checked at interval of 2 weeks for 12 weeks. Primary end point was time to achieve sputum smear conversion. RESULTS: Fifteen patients having vitamin D>20 ng/ml were excluded. Age of the patients was 42.9±13.2 years and serum vitamin D levels were 18.4±15.3 ng/ml. Sputum smear conversion was 6 weeks in group 1 versus 8 weeks in group 2 (p=0.067). Glycated hemoglobin levels reduced from 11.1±1.3 to 7.7±0.9 in group 1 versus 10.3±1.2 to 7.8±1.1 (p>0.1). CONCLUSION: Vitamin D can serve as adjuvant treatment of tuberculosis in diabetics with vitamin D deficiency. Further studies are required to validate this observation and define a cut off for vitamin D level to prevent immunological alterations.