Vageesh Ayyar

History of growth hormone therapy.

Although the importance of the pituitary gland for growth was recognized in late 19th century, Growth hormone (GH) therapy was made available for severely GH-deficient children and adolescents only in late 1950s. Use of GH for other conditions was limited because of the limited supply of human pituitary-derived hormone. With unlimited availability of recombinant human GH (rhGH), the scenario of GH treatment has been changed enormously. Currently there is ever increasing list of indications of GH treatment in children, adolescents, and adults.

Autonomic nervous system function in type 2 diabetes using conventional clinical autonomic tests, heart rate and blood pressure variability measures.

Background: There are currently approximately 40.9 million patients with diabetes mellitus in India and this number is expected to rise to about 69.9 million by the year 2025. This high burden of diabetes is likely to be associated with an increase in associated complications. Materials and Methods: A total of 23 (15 male and 8 female) patients with type 2 diabetes of 10-15 years duration and their age and gender matched controls (n=23) were recruited. All subjects underwent detailed clinical proforma, questionnaire related to autonomic symptoms, anthropometry, peripheral neural examination and tests of autonomic nervous system including both conventional and newer methods (heart rate and blood pressure variability). Results: Conventional tests of cardiac parasympathetic and sympathetic activity were significantly lower in patients with diabetes compared to the controls (P<0.05). The diabetic patients group had significantly lower high frequency and low-frequency HRV when expressed in absolute units (P<0.05) and total power (P<0.01) compared to the controls. Conclusion: Data from the current study demonstrated that diabetics had both cardiac sympathetic and cardiac parasympathetic nervous system involvement. The presence of symptoms and involvement of both components of the autonomic nervous system suggest that dysfunction has been present for a while in these diabetics. There is a strong need for earlier and regular evaluation of autonomic nervous system in type 2 diabetics to prevent further complications.

Berardinelli Seip syndrome with insulin-resistant diabetes mellitus and stroke in an infant.

Berardinelli Seip congenital lipodystrophy (BSCL) is a rare metabolic disorder characterized by severe generalized lipodystrophy, insulin resistance, and dyslipedemia since infancy, and onset of overt diabetes mellitus in adolescence. Here we report a 5-month-old infant with clinical and metabolic manifestations of Berardinelli Seip syndrome including overt diabetes mellitus and stroke, which are very rare at this age.

Thyroid ectopia: A case series and literature review

Thyroid ectopia is a dysgenesis of thyroid gland. A series of seventeen patients with ectopic thyroid tissue and dyshormonogenesis is presented here. Patient data were reviewed retrospectively for this descriptive study. At presentation, age of the patients ranged from 2 months to 50 years (mean age -13.7 yr). Male to female ratio is 1: 7.5. Hypothyroidism is present in 94.1% cases whereas 5.88% (one case) cases have thyrotoxicosis. Though dyshormonogenesis was the main reason for reference of these cases to our department, a variety of other symptoms like dysphagia (5.88%), obstructive sleep apnea (5.88%), swelling in the neck (17.6%), slow growth were also present (5.88%). Other than thyroid replacement therapy for hypothyroidism and radioactive iodine therapy for thyrotoxicosis, surgical removal was advised in two cases of persisting obstructive symptoms.

Erroneous glucose recordings while using mutant variant of quinoprotein glucose dehydrogenase glucometer in a child with galactosemia

We report a 2-month-old child with galactosemia and falsely high glucose readings with a glucometer using mutant variant of quinoprotein glucose dehydrogenase (MutQ-GDH) chemistry. Potentially fatal hypoglycemia could have been induced in the child if insulin infusion had been initiated as per glycemic management protocol. Even though, the product information with the glucometer carries warning regarding interference by high galactose levels, the awareness regarding this interaction is generally poor in many practice settings. Although, false readings have been reported with glucose dehydrogenase pyrroloquinoline quinone (GDH-PQQ) glucometers, to our knowledge this is the first case report of a falsely high glucose reading due to high galactose in a proven case of galactosemia with a glucometer using the MutQ-GDH chemistry (a modified GDH-PQQ chemistry). Our experience has prompted us to write this case report and we suggest avoiding these glucometers in neonates and infants when a metabolic disease is suspected.

Russell Silver syndrome: a perspective on growth and the influence of growth hormone therapy.

A 6 years male child was referred to our Endocrinology clinic with complaints of failure to thrive and he displayed the characteristic features of Russell Silver Syndrome which included short stature, relative macrocephaly, triangular facies and bilateral clinodactyly. He had a birth weight of 2.14 kg and an expected target height of 170 cm. He was subjected to a hormonal analysis which revealed a normal thyroid profile, but low serum markers of growth namely IGF-1=68 ng/ml (52-297 ng/ml) and basal growth hormone (GH) (1.5 μg/l). No defects were detected on MRI of the sella. Therefore a growth hormone stimulation test with Clonidine was performed which confirmed complete GH deficiency (at 0 min=0.16 μg/l, 60 min=0.27 μg/l, 120 min=4.73 μg/l). He was commenced on rhGH therapy at 8 years of age (height=102 cm, SDS=-4.53), due to financial restraints. Following initiation of GH therapy (1.5 IU/day) for 19 months, a height gain of 15 cm was obtained (Height=117 cm, SDS=-3.05). Bone age at 9 yr. was between 7-8 years.

Congenital adrenal hyperplasia - experience from a tertiary centre in South India.

Congenital adrenal hyperplasia is a group of autosomal recessive disorders caused by enzyme deficiency which leads to defects in biosynthesis of steroid precursors. Most common is 21 hydroxylase deficiency. Clinical spectrum varies from non-classical CAH to classic CAH, and it may be simple virilising form or salt-wastinfg type. 29 patients were included in our study from January 2012 to October 2012. 76% were females. Male babies typically presented with adrenal crisis between 3rd to 6th week of life. Around 20% of females were identified and appropriately treated only after late adolescence. Short stature was seen in 1/3rd of patients. 1/3rd of patients had suppressed 17 OHP levels suggestive of over-replacement therapy which may contribute to final reduction in adult height.

Evaluation of serum vitamin B12 levels in type 1 diabetics attending a tertiary care hospital: A preliminary cross - sectional study.

Aims and Objectives: To estimate serum vitamin B12 levels in type 1 diabetes and to evaluate the influence of duration of diabetes, diabetic control, and age on B 12 levels. Importance of Study: Vitamin B12 deficiency is known to be associated with autoimmune disorders. However, currently there is very limited and controversial data regarding the prevalence of B12 deficiency in type 1 diabetes in South Indian population. If our study demonstrates the presence of low serum B12 levels in type1 diabetes in our population, a recommendation for regular screening and supplementation of vitamin B12 could be considered in these patients. Materials and Methods: This was a cross- sectional study. Ninety type 1 diabetic patients (44 males and 46 females) were randomly selected based on inclusion/ exclusion criteria from the diabetes registry at Bangalore Diabetes Centre. Serum vitamin B12 level and parameters for diabetic controls were estimated using fully automated methods. All statistical analysis was carried out using SPSS version 16. Results: The study showed that 45.5% of the diabetics had low B12 using the manufacturers cut – off of 180 pg/mL and 54% had low B12 using the published cut – off of 148 pmol/l (200pg/mL). There was no significant difference in B12 levels between males and females (mean difference = - 14.3: P > 0.05). The study did not demonstrate any significant correlation between vitamin B12 levels and age, duration of diabetes, and diabetes control (the r values being – 0.18, - 0.11, and - 0.08 respectively and the P-value > 0.05). Conclusion: Results of our study shows the presence of low serum B12 levels in type 1 diabetics. These findings merits further research on a larger population to investigate into the cause of deficiency and the benefit of B12 supplementation in these patients.

“Riding high on low fuel” - Our experience with endogenous hyperinsulinemic hypoglycemia

Introduction: Endogenous hyperinsulinemic hypoglycemia (EHH) is a condition in which the insulin levels are inappropriately high in the presence of low plasma glucose. Materials and Methods: We did a retrospective analysis of case records of those patients admitted and evaluated for EHH from June 2004 to June 2016 in our center, excluding those that were diagnosed with reactive hypoglycemia. We collected data regarding demographics, clinical presentation, laboratory results, localization techniques, and treatment administered. Results: Sixteen patients who were admitted for evaluation based on history suggestive of repeated hypoglycemic episodes were included in the study. All but one pregnant patient was subjected to a supervised fast in the hospital. All patients developed hypoglycemia (defined using Whipples triad) within the first 24 h. Three patients had autoimmune hypoglycemia which differed significantly from insulinoma-mediated hypoglycemia in certain clinical and laboratory parameters. They were older in age with marked fluctuations in the 24 h glucose profile ranging from frank hypoglycemia to frank hyperglycemia. The insulin levels were markedly elevated in this group of patients along with a significantly elevated insulin C peptide molar ratio (ICMR) when compared with patients with insulinoma-mediated hypoglycemia. Conclusions: Although insulinoma is the most common cause of EHH, autoimmune hypoglycemia should be considered as a differential diagnosis, particularly in older individuals with plasma glucose values increasing to the hyperglycemic range. Degree of elevation of insulin levels and ICMR may provide additional clues. Overall, the survival and prognosis of patients with EHH are excellent.

Shared decision making and patient choice for growth hormone therapy: current perspectives

php and incorporate the Creative Commons Attribution – Non Commercial (unported, v3.0) License (http://creativecommons.org/licenses/by-nc/3.0/). By accessing the work you hereby accept the Terms. Non-commercial uses of the work are permitted without any further permission from Dove Medical Press Limited, provided the work is properly attributed. For permission for commercial use of this work, please see paragraphs 4.2 and 5 of our Terms (https://www.dovepress.com/terms.php). Research and Reports in Endocrine Disorders 2016:6 41–48 Research and Reports in Endocrine Disorders Dovepress