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Thyrotoxicosis, a clinical syndrome characterized by manifestations of excess thyroid hormone, is one of the commonly-recognised conditions of the thyroid gland. Thyrotoxicosis causes acceleration of bone remodelling and though it is one of the known risk factors for osteoporosis, the metabolic effects of thyroxine on bone are not well discussed. Studies show that thyroid hormones have effects on bone, both in vitro and in vivo. Treatment of thyrotoxicosis leads to reversal of bone loss and metabolic alterations, and decreases the fracture risk. There are limited studies in India as to whether these changes are fully reversible. In this review we discuss about the effects of thyrotoxicosis (endogenous and exogenous) on bone and mineral metabolism, effects of subclinical thyrotoxicosis on bone and mineral metabolism and effects of various forms of treatment in improving the bone mineral density in thyrotoxicosis. [ABSTRACT FROM AUTHOR]

Aim. To identify dysmorphic features and cardiac, skeletal, and urogenital anomalies in patients with congenital hypothyroidism. Patients and Methods. Seventeen children with congenital primary hypothyroidism were recruited. Cause for congenital hypothyroidism was established using ultrasound of thyroid and 99mTc radionuclide thyroid scintigraphy. Malformations were identified by clinical examination, echocardiography, X-ray of lumbar spine, and ultrasonography of abdomen. Results. Ten (59%) patients (6 males and 4 females) had congenital malformations. Two had more than one congenital malformation (both spina bifida and ostium secundum atrial septal defect). Five (29%) had cardiac malformations, of whom three had only osteum secundum atrial septal defect (ASD), one had only patent ductus arteriosus (PDA), and one patient had both ASD and PDA. Seven patients (41%) had neural tube defects in the form of spina bifida occulta. Conclusion. Our study indicates the need for routine echocardiography in all patients with congenital hypothyroidism. [ABSTRACT FROM AUTHOR]

Dysplastic white matter lesions/unidentified bright objects /Foci of abnormal signal intensities (FASi's) in brain MRI are the commonest intracranial abnormality with Neurofi bromatosis 1 seen in approximately 70-75% of patients. They are usually multiple, small in size and are typically located in globus pallidus, brainstem, centrum semiovale, thalamus, internal capsule, corpus callosum, and cerebellum. Although clinically silent, patients can present with reduced attention span however neuropsychological functioning of these lesions depends upon the region involved. NF1 lesions should be kept as differential for any hyperintense lesion in basal ganglia and caution is advised not to confuse these lesions with malignant lesions like gliomas as biopsies from these lesions showed benign etiology. Parental counselling regarding the prognosis is very important to alleviate unnecessary apprehension. Interval follow-up is advised for large lesions causing mass effect, showing contrast enhancement or when lesions are located in optic pathway. [ABSTRACT FROM AUTHOR]

Introduction: Pituitary apoplexy is a rare clinical syndrome that occurs as a result of acute haemorrhage and/or infarction within a pituitary tumour. The true incidence of this rare condition is difficult to determine. In a large epidemiological study from the UK, 6.2 Pituitary apoplexy cases/1,00,000 population were identified. Case Report: We present a case of 39 year old female patient who presented to the emergency with acute febrile illness since 8 days, melena since 3 days and sudden onset loss of vision and ptosis in the right eye along with worsening of sensorium. She had history of amenorrhoea since 3 years along with galactorrhoea. She had history of pituitary macroadenoma for which she underwent surgery 8 years back. On examination she was found to have dilated, non reacting pupil with external ophthalmoplegia on the right side. She also had galactorrhea and sparse axillary and pubic hair. Febrile illness work up showed her to have dengue fever (IgM positive) with thrombocytopenia (11,000). Biochemical work up show free T4 -- 0.95 ng/dl and 8 am cortisol -- 120 nmol/L. MRI brain was done and it showed a pituitary adenoma with apoplexy. She was started on inj. Hydrocortisone infusion along with platelet infusions to correct thrombocytopenia. She underwent decompression surgery following which symptoms subsided. Conclusion: Dengue haemorrhagic fever leading to apoplexy in pituitary adenoma is extremely rare with very few cases reported in literature. Pituitary apoplexy should be considered as differential diagnosis in cases of sudden loss of vision with thrombocytopenia. [ABSTRACT FROM AUTHOR]

Introduction: A tumoral mass at the clivus is uncommon and its differential diagnosis presents a challenge, since many different tumours may result in a similar radiological image. A chordoma is the most common of these tumours and represents 40% of all cases. Less common are meningiomas, astrocytoma, germinal cell tumours, lymphoma, metastases and rarely pituitary adenoma. We present a case of clivus tumour found to have hyperprolactinemia. Case Report: A 48 year old male patient who is a known case of cervical disc prolapse came with complaints of headache since 2 months, localised in the right temporo - occipital region without any visual disturbances or vomitings. General physical examination as well as neurological examination were unremarkable. MRI brain was done which showed a well defined hypointense mass lesion involving the clivus, superiorly invading the sella, elevating the pituitary with parasellar extension and encasement of the left carotid. On biochemical investigation serum prolactin was found to be 2613.77 ng/ml, free T4 -- 0.67, TSH -- 1.14, serum cortisol -- 150.1 nmol/L and serum testosterone -- 0.53 ng/ml. He was started on Tab. Cabergoline 0.5mg twice weekly along with thyroxine and steroid replacement. On follow up, his prolactin came down to 8.36 ng/ml. Conclusion: Care should be taken while evaluating clival tumours, as ectopic pituitary adenomas, through extremely rare, are a possibility. These cases require a complete endocrinological workup preoperatively as the majority may respond to medical treatment. [ABSTRACT FROM AUTHOR]

A 32 year old lady with known hypothyroidism for 10 years on regular levothyroxine supplements was admitted with history of high grade fever and continuous headache for 1week duration and history of fall and loss of consciousness. On admission she had 3 recurrent episodes of GTCS. On examination, she was drowsy but arousable and had normal vitals and systemic examination was normal. She was managed in ICU with IV antiepileptics and supportive care, meanwhile screened for infective and vasculitic causes which were normal. Chest imaging showed mild pleural effusion. MRI brain and CSF analysis for meningitis screen, HSV and MTB PCR, were negative. EEG showed bilateral diffuse dysfunction with epileptiform activity. Vasculitic workup was negative. Blood, urine and CSF cultures were sterile. Malarial, dengue and leptospira and toxicology screen were negative. She developed status epilepticus and had persistent altered sensorium and was not responsive to multiple antiepileptic combinations. Serum CPK levels were elevated. Serum electrolytes were normal. Thyroid profile showed high normal TSH and normal ft4, ft3 and positive for anti TPO antibodies, consistent with hashimotos thyroiditis. Patient was started on IV methylprednisolone after which she began to improve gradually and supportive and rehabilitative care was continued and steroid dose was tapered off. Serum and CSF analysis for autoimmune encephalitis profile was negative for other autoimmune conditions. She was discharged on low dose oral steroids and combination antiepileptic regimen. During follow up FDG PET brain scan was done which showed relative hypometabolism in occipital, parietal and temporal lobes consistent with hashimotos encephalitis. She is doing well on low dose oral steroids and triple drug antiepileptic regimen and is under follow up. Conclusion: This is a rare presentation of hypothyroidism with status epilepticus diagnostically proven Hashimotos encephalitis, a steroid responsive condition. [ABSTRACT FROM AUTHOR]

Introduction: Lipomatosis or fat replacement of the pancreas is the most frequent benign pathologic conditions of the adult pancreas. Most cases are asymptomatic and only some rare extreme degrees of lipomatosis lead to exocrine pancreatic insufficiency. We present a case of total pancreatic lipomatosis with steatorrhea. Case Report: A 50 year old female patient who is a known case of diabetes mellitus since 8 months on OHAs came with complaints of abdominal discomfort, decreased appetite, loose stools (3-4 episodes/ day) with steatorrhea since 1 year. History of weight loss of 3-4 kgs present since 2 months. There was no history of jaundice/pruritus / pale stools or any signs suggestive of pancreatitis/pancreatic cancer. Physical examination revealed pallor, grade 1 acanthosis and pitting oedema of bilateral lower limbs. Cardiovascular and respiratory system examination revealed no abnormality. Routine blood tests and renal function tests were normal. Liver function tests were also found to be normal. Ultrasound abdomen was done which revealed diffusely enlarged pancreas with hyperechoic echotexture. Computed tomography revealed near total fatty replacement of head, body and tail of the pancreas (attenuation value = -80 to -85 HU), and only a thin pancreatic parenchyma was seen. There was no calculus or dilatation of intrahepatic biliary radicals or common bile duct. Based on these findings, the diagnosis of diffuse pancreatic lipomatosis leading to steatorrhea was made. Conclusion: Despite the rarity of fatty replacement of the pancreas, clinicians must always exclude pancreatic lipomatosis in evaluation of cases of malabsorption. CT can reliably exclude the disease. [ABSTRACT FROM AUTHOR]

Introduction: Conradi-Hünermann-Happle syndrome (CHH syndrome) is very rare cause of short stature. Annual incidence of CHH syndrome has been estimated to be at least 1/400,000 births. We report such a very rare case. Case Report: A 18 year old female with short stature, admitted for implanted nail replacement. She is born to a non consagenous parents, had generalized icthyosis of skin from birth, bilateral congenital cataract which were operated at age of 3 years with IOL implantation, short stature and difficulty in walking. History of genu valgum was present for which corrective ostotomy and nail implantation was done at age of 10 years, after which she is able to walk properly. No history of fracture is present. On examination patient had disproportionate short stature with preferential shortening of humerus and femur, scoliosis, mid facial hypoplasia, depressed nasal bridge, bilateral IOl, alopecia, hyperpigmented thick dry scaly skin. Past x-rays showed epiphyseal stippling, scoliosis of spine and platyspondyly of vertebrae. She had normal intelligence and regular menstrual cycles. Hormonal evaluation was done to rule out other causes of short stature and found to be normal. Conclusion: In disproportionate causes of short stature having specific stigmata, this CHH syndrome should be kept in differential diagnosis. [ABSTRACT FROM AUTHOR]

Introduction: Incidence of vascular complications as initial manifestation is less than 1 %. We report 2 cases of hyperthyroidism which presented to Emergency department. Case 1: A 35 year old male presented with sudden onset of headache, altered sensorium and left hemiplegia. History of increased appetite, hyperdefeacation, excessive sweating and weight loss since 6 months. On examination, patient is emaciated, multinodular goiter and proptosis is seen. Patient had hyperpyrexia, tachycardia and high BP. The calculated Burch- Wartofsky-Score was 105 which is suggestive of thyroid storm. Thyroid profile is in thyrotoxic range (FT3 16 pg/ml, FT4 >5.96 ng/ dl, TSH 0.14 mIU/L), Anti TPO positive. MRV showed thrombosis of deep cerebral veins. Factor VIII activity was increased. Protein-C, protein-S, Factor V Leiden mutation and homocyteine were normal. So, this as a case of Cerebral Venous Thrombosis secondary to transient hypercoagulable state due to thyrotoxicosis. Thyroid storm was managed and recovered well. Case 2: A 62 old female presented with typical anginal pain. ECG showed anterior wall ischemic changes, 2D echo showed anterior wall hypokinesia, and biomarkers are elevated. History of weight loss, hyperphagia and palpitations since 3 months. Examination showed left STN. TFT was done which was shown to be in thyrotoxic range (FT3- 17 pg/ml, FT4- 5.39 ng/ dl, TSH- 0.02 mIU/l). Coronary angiogram was done which showed mild CAD in LAD territory. This is a case of coronary vasospasm due to thyrotoxicosis. Conclusion: In cases of acute vascular events, thyrotoxicosis should be kept in mind and should be evaluated. [ABSTRACT FROM AUTHOR]

Introduction: Endocrine complications of neonatal meningitis is rare. We report such 2 varied presentations, one presenting as precocious puberty and other as delayed puberty. Case 1: A 7 years girl presented with premature menarche. She had thelarche and pubarche from 6 months with no growth spurt. Patient had a history of neonatal meningitis with obstructive hydrocephalus. On examination her height is 132 cm which is 50 centiles above the MPH in growth chart. SMR is B2A1P3. Her bone age corresponds to 12 years. Hormonal evaluation showed basal LH is 12.41 mIU/ml, FSH is 5.50 mIU/ml, Estradiol is 143 pg/ml. Thyroid function tests are normal. As the base line LH levels are high, the diagnosis of gonadotrophin dependent precocious puberty is made. CT brain showed normal sella and dilated ventricles and VP shunt insitu. She is started on GnRH analogue luperolide monthly injection and rensponded well. Case 2: A 15 years old boy presented with short stature and global developmental delay. He was born to non consanguineous parents, developed meningitis at age of 20 days and seizures on and off till 7 years. On examination found to had height -7 SD and no other dysmorphic features. Stimulated growth hormone is less than 1 ng/ml, Serum cortisol is 4.7 µg/dl, remaining other pituitary hormones are normal. CT sella showed partial empty sella. This is a case of combined pituitary hormone deficiency, a neonatal meningitis post sequlae. Conclusion: Children with a history of neonatal meningitis should be closely followed for complications in growth. [ABSTRACT FROM AUTHOR]

There are two types of vitamin D dependent rickets (VDDR) that cause rickets in children. VDDR type 1 (VDDR-I) is caused by an inborn error of vitamin D metabolism, which interferes with renal conversion of calcidiol (25OHD) to calcitriol (1,25(OH)2 D) by the enzyme 1-α-hydroxylase. Patients with VDDR-I have mutations of chromosome 12 that affect the gene for the enzyme 1-α-hydroxylase, resulting in decreased levels of 1,25(OH) vitamin D. Clinical features include growth failure, hypotonia, weakness, rachitic rosary, convulsions, tetany, open fontanels and pathologic fractures. We report a case of VDDR-I in 14-month-old male child. Establishing an early diagnosis of these genetic forms of rickets is challenging, especially in developing countries where nutritional rickets is the most common variety of the disease where genetic diagnosis is not always possible because of financial constraints. A prompt diagnosis is necessary to initiate adequate treatment, resolve biochemical features and prevent complications, such as severe deformities that may require surgical intervention. [ABSTRACT FROM AUTHOR]

Introduction: Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. We are reporting a case of Say Meyer syndrome presented to our hospital for short stature and developmental delay at age 3 1/2 years. Case Report: A 3 1/2-year-old boy presented to our hospital for decreased growth velocity from the age of 1 year. History revealed the boy had a birth weight of 2.3 kg, had an episode of seizures in the neonatal period. He was born to non-consanguineous marriage. He had global developmental delay and there was a lack of bowel and bladder control. History did not reveal any hearing or visual impairment. No history of any chronic systemic illnesses. Magnetic resonance imaging (MRI) brain revealed mild diffuse frontotemporal atrophy with multiple irregular gliotic areas in bilateral frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres. Diffuse thinning of corpus callosum. Diffuse periventricular hyper intensity on T2W and fluid attenuated inversion recovery sequences. Conclusion: Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. Characteristic MRI brain findings include diffuse frontotemporal atrophy with multiple gliotic areas in frontal lobes. Diffuse white matter volume loss in bilateral cerebral hemispheres. [ABSTRACT FROM AUTHOR]

Introduction: Postmenopausal women constitute an ideal model for studying the extent of hypothalamo-pituitary-gonadal (HPG) axis suppression in critical illness as the gonadotropinsare normally high and non-cyclical in them. Objectives: The objective of this study is (i) to assess the impact of acute severe illness on the HPG axis in postmenopausal women, (ii) to correlate the severity of illness with (a) activity of the HPG axis, (b) the activity of the hypothalamo-pituitary-adrenal axis, (c) activity of the hypothalamo-pituitary-thyroid axis and (d) serum prolactin. Methods: A total of 35 postmenopausal women older than 60 years admitted to medical intensive care with a simplified acute physiology score II (SAPS II) more than 30, consistent with a predicted in-hospital mortality of greater than 10% were recruited. On day 5 of their hospital stay, blood samples were collected for estradiol, luteinizing hormone (LH), follicle stimulating hormone (FSH), cortisol, androstenedione and prolactin and thyroid profile. As controls, 35 apparently healthy postmenopausal women were recruited. Results: Levels of LH, FSH, free thyroxin (fT4) and triiodothyronine were lower while estradiol, cortisol and androstenedione were higher among patients in comparison with healthy controls. Prolactin levels were similar in patients and controls. Among sick patients both FSH and fT4 showed a negative correlation (P < 0.05) with the SAPS II score. Conclusions: Estrogens are paradoxically elevated despite gonadotropin suppression in critically ill postmenopausal women, suggesting a non-ovarian origin of the same. Prolactin remained unaltered despite illness in patients, possibly reflecting atrophy of lactotrophs in menopause. [ABSTRACT FROM AUTHOR]