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.

A rare case of short stature: Say Meyer syndrome.

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 3½ years. CASE REPORT: A 3½-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.

A study on metabolic variables and its association with high sensitive C-reactive protein in obese children and adolescents.

Obesity in children and adolescents predispose to the development of obesity in adulthood and subsequent cardiovascular disease. High-sensitivity C-reactive protein (hsCRP) is a marker of low grade inflammatory state, which characterizes an atherosclerotic process. The aim of this study was to assess the metabolic abnormalities and its association with hsCRP in obese children and adolescents. A total of 62 obese children and adolescents and 24 healthy children and adolescents with a normal weight were recruited. In all subjects, anthropometric and biochemical parameters were measured. Body mass index (BMI) and blood pressure were significantly higher in the obese children and adolescents than the control. Obese children had significantly higher hsCRP levels (P < 0.001), total cholesterol, triglyceride, low-density lipoprotein-cholesterol (LDL-C) and lower high-density lipoprotein-cholesterol than the control group. Furthermore, homeostatic model assessment-insulin resistance (HOMA-IR) was significantly higher in obese children compared with the normal weight children. Furthermore, hsCRP showed a positive correlation with BMI (r = 0.357; P = 0.028), total cholesterol (r = 0.367; P = 0.008) and LDL-C (r = 0.356; P = 0.01), insulin (r = 0.311; P = 0.026) and not with HOMA-IR (r = 0.244; P = 0.084)). In conclusion, obese children and adolescents have significantly increased hsCRP compared with a normal weight group. Early intervention and prevention of obesity in children and adolescents decreases cardiovascular disease in later 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)2D) 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.