High Prevalence of Associated Birth Defects in Congenital Hypothyroidism

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

Genetic Improvement of Rice for Multiple Stress Tolerance in Unfavorable Rainfed Ecology

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Study of prevalence of endocrine abnormalities in primary empty sella

Introduction: Empty sella is usually an incidental finding. Empty sella is an anatomical condition characterized by the presence of cerebrospinal fluid within the sella with a small pituitary gland compressed above the pituitary floor causing endocrine abnormalities. Aim: The aim of this study is to evaluate hormonal abnormalities associated with empty sella in tertiary care center. Materials and Methods: This ongoing study was carried out in patients attending to endocrine out-patient departments from August 2012 to July 2013. A detailed history and examination was done. Hormonal evaluation including free thyroid hormones, thyroid stimulating hormone, growth hormone (GH), follicular stimulating hormone, luteinizing hormone, cortisol and prolactin was done. Results: A total of 16 patients diagnosed clinically and biochemically of hormonal abnormalities were found to have empty sella on magnetic resonance imaging. Hypocortisolemia in 62.5% of cases, hypothyroidism in 50% of cases, in 18.75% hypogonadism, hyper prolactinemia in 18.7.5%, GH deficiency in 12.5% of cases and in 12.5% cases posterior pituitary involvement is seen. Conclusion: The high incidence of endocrine abnormalities associated with empty sella necessitates the need for prompt evaluation and early replacement of hormones for better quality-of-life

Seizure as a presenting manifestation of vitamin D dependent rickets type 1

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

Macroorchidism as presenting feature of Fragile X Syndrome

Fragile X syndrome (FXS) is the most common cause of inherited intellectual disability.1 We report the case of a 6-yearold boy who presented with the complaints of excessive cry and increased testicular volume, during the preceding six months. Physical examination revealed elongated faces, protruding cupped ears and macroorchidism (testicular volume 6-8 mL), anxiety, hyperactivity and attention deficit, clinically suggestive of FXS

Impact of severity of illness on the function of the hypothalamo-pituitary-gonadal axis in postmenopausal women with acute severe illness: Implications for predicting disease outcome

Background: While elevated levels of estradiol were predictive of mortality in critically ill surgical and trauma patients, their ability to predict outcome in nonsurgical patients has not been studied. We aimed to study the determinants of gonadotropin levels in acutely ill postmenopausal women with nonsurgical disease and the impact of changes in the gonadal axis on the outcome of these patients. Methods: Thirty-five postmenopausal women admitted to medical intensive care with acute severe illness and having a Simplified Acute Physiology Score (SAPS II score) ≥30 (in-hospital mortality rate ≥ 10%) were recruited. On the 5th day of hospitalization, fasting samples were collected at 8.00 am and tested for luteinizing hormone (LH), follicle-stimulating hormone (FSH), estradiol, free triiodothyronine, free thyroxine, thyrotropin, cortisol, prolactin, dehydroepiandrosterone, androstenedione, and sex hormone-binding globulin. Multiple linear regression analysis was performed to identify independent determinants if any of LH and FSH. Receiver operating characteristic (ROC) curves were drawn for different cutoffs of LH, FSH, and estradiol to diagnose mortality and prolonged hospitalization. Results: There was an independent negative association between the FSH and the SAPS II score (beta = −0.435; P = 0.014), but not with any of the other tested parameters (estradiol, prolactin, or cortisol). Among components of the SAPS II score, the total leukocyte count (TLC) was negatively associated with serum FSH (beta coefficient = −0.635, P = 0.013). None of these parameters were determinants of LH. On ROC analysis, neither estradiol nor gonadotropins were diagnostic for in-hospital mortality. However, among survivors, low estradiol was diagnostic for prolonged hospital stay (area under the curve = 0.785; P = 0.015). Conclusion: FSH, but not LH, is negatively associated with the severity of illness, particularly to its inflammatory component (TLC). Low estradiol in survivors was a predictor of prolonged hospital stay