Neonatal diabetes mellitus: remission induced by novel therapy.

A female child with deafness was diagnosed to have neonatal diabetes mellitus at the age of 6 months, on routine evaluation prior to cochlear implant surgery. She presented to us at 11 months of age with diabetic ketoacidosis due to an intercurrent febrile illness. Her haematological parameters showed megaloblastic anaemia and thrombocytopenia. Therefore a possibility of Thiamine Responsive Megaloblastic Anaemia (TRMA) syndrome was considered. She was empirically treated with parenteral thiamine hydrochloride (Hcl). Subsequently, due to the unavailability of pharmacological preparation of oral thiamine Hcl in a recommended dose she was treated with benfotiamine. She had a sustained improvement in all her haematological parameters on oral benfotiamine. The insulin requirement progressively reduced and she is currently in remission for last 2 years. The genetic analysis confirmed the diagnosis of TRMA syndrome. Thus benfotiamine can be considered a new treatment option in management of TRMA syndrome.

Pituitary dysfunction in traumatic brain injury: Is evaluation in the acute phase worthwhile?

INTRODUCTION: Traumatic brain injury (TBI) is an under-recognized cause of hypopituitarism. According to recent data, it could be more frequent than previously known. However, there is a scarcity of data in Indian population. AIMS: The main aim of the study was to determine the prevalence of pituitary hormone deficiencies in the acute phase of TBI. The secondary objectives were to correlate the severity of trauma with basal hormone levels and to determine whether initial hormone deficiencies predict mortality. SUBJECTS AND METHODS: Forty-nine TBI patients (41 men and 8 women) were included in this study. Pituitary functions were evaluated within 24 h of admission. RESULTS: Gonadotropin deficiency was found in 65.3% patient while 46.9% had low insulin-like growth factor-1, 12.24% had cortisol level <7 mcg/dl. Cortisol and prolactin level were positively correlated with the severity of TBI suggestive of stress response. Free triiodothyronine (fT3) and free thyroxine were significantly lower in patients with increasing severity of tuberculosis. Logistic regression analysis revealed that mortality after TBI was unrelated to the basal pituitary hormone levels except low T3 level, which was found to be positively related to mortality. CONCLUSIONS: Pituitary dysfunction is common after TBI and the most commonly affected axes are growth hormone and gonadotropin axis. Low fT3 correlates best with mortality. During the acute phase of TBI, at least an assessment of cortisol is vital as undetected cortisol deficiency can be life-threatening.

Alström Syndrome with Portal Hypertension.

Alstrom syndrome is an autosomal recessive multisystem disorder caused by mutation in ALMS1 (2p13). Very few cases of same are reported so far of same. We report a case of Alstrom syndrome (AS) who presented with type II diabetes mellitus and portal hypertension. Unilateral anorchia with hypergonadotropic hypogonadism is another unique feature of our case.

Celiac autoimmunity in autoimmune thyroid disease is highly prevalent with a questionable impact.

INTRODUCTION: The prevalence of autoimmune thyroid disease (AITD) is 10-12% in the general population worldwide. Among various disorders co-existing with AITD, the concomitance of celiac disease (CD) with AITD results in poor absorption of thyroid medications and results in higher doses of the same. Institution of gluten-free diet (GFD) in this cohort helps reduce medication doses. AIM: To screen patients with AITD for the presence of celiac autoimmunity (CA). MATERIALS AND METHODS: A total of 280 consecutive patients with AITD attending the thyroid Out-patient Department of a tertiary care hospital were screened for the presence of tissue transglutaminase antibodies (immunoglobulin A tissue transglutaminase). Those with a positive titer (but < 10 times the upper limit of normal) underwent upper gastrointestinal endoscopy and duodenal mucosal biopsy for the diagnosis of CD, followed by institution of GFD in confirmed cases. RESULTS: Of a total of 280 (182 females and 98 males) patients with AITD screened, 24 (8.6%) turned out to be positive for CA. Of 24 (8.6%), 15 (8.24%) females and 9 (9.18%) males were positive for CA. There was no statistically significant difference in the thyroxine doses required for normalization of thyroid function and the weight of the patients in CA positive and CA negative patients. CONCLUSIONS: The prevalence of CD in patients with AITD is much greater than in the general population. This forms the basis for screening patients with AITD for presence of CD.

Fasts, feasts, and festivals in diabetes: Glycemic management during Parsi rituals.

The article is one in the series of articles related to glycaemic management in festivals across all religions in India. The article discusses issues in glycaemic management among Parsi culture, which represent a small but ever important group of Indian population.

Asymmetrical Ovarian Enlargement: Caught Timely Before the Cut!

BACKGROUND: Van Wyk-Grumbach syndrome is a rare complication of prolonged untreated primary hypothyroidism characterized by precocious puberty and enlarged multicystic ovaries. High index of suspicion and timely diagnosis can prevent unnecessary surgical procedures because this condition can be reversed with thyroid hormone supplementation. CASE: A 12-year-old girl underwent abdominal ultrasonography for recurrent abdominal pain, which showed bilateral asymmetrical enlargement of ovaries. Ovarian tumor markers were negative. Subsequent evaluation revealed severe hypothyroidism. Patient was started on levothyroxine and both ovaries showed regression to normal volume within 1 year of normalizing thyroid function tests. SUMMARY AND CONCLUSION: Prompt and adequate medical management with levothyroxine can completely reverse ovarian enlargement associated with hypothyroidism.

Graves' disease and coeliac disease: screening and treatment dilemmas.

The association between autoimmune thyroid disorders (AITD) and coeliac disease (CD) is well known, however, most of the literature concentrates on hypothyroidism and CD. We report a case of a 37-year-old woman with Graves' disease (GD) who presented with thyrotoxicosis that was not responsive to medical management. The screening for coeliac autoimmunity (CA) was positive. After initiation of a gluten-free diet the patient's thyrotoxicosis responded to medical management. She was given radioiodine therapy and is currently hypothyroid on a stable dose of thyroxine.

Coeliac autoimmunity in type I diabetes mellitus.

BACKGROUND AND STUDY AIMS: Coeliac autoimmunity (CA) has a known association with type 1 diabetes mellitus (T1DM) for which screening is routinely recommended but less frequently followed. The impact of CA in T1DM has been variably reported. The aims of this study are as follows: (1) to study the prevalence of CA in patients with T1DM and (2) to study the impact of CA not only on nutritional parameters but also on glycaemic control, endocrine axes and bone health. PATIENTS AND METHODS: Eighty-six consecutive patients with T1DM were screened for CA using immunoglobulin A (IgA) tissue transglutaminase as a marker (TTG; IgG anti-gliadin in IgA-deficient case). CA positive (CA+) cases were compared with age-matched and sex-matched CA negative (CA-) T1DM cases for anthropometry, glycaemic control (assessed by glycated haemoglobin (HbA1c) and hypoglycaemic/hyperglycaemic episodes), endocrine (thyroid function, cortisol, growth hormone (GH) axis, gonadal axes), haematological (haemoglobin, iron profile and vitamin B12 status) and calcium metabolism parameters and bone densitometry (by dual-energy X-ray absorptiometry (DXA)). Consenting patients with CA also underwent upper gastrointestinal (GI) endoscopy with duodenal biopsy. RESULTS: Out of 86 patients, 11 (12.75%) screened positive for CA (seven patients underwent duodenal biopsies which were suggestive of Marsh grade III(2), II(3) and I(2) disease). The CA+ T1DM patients were comparable with CA- T1DM in terms of anthropometry. CA+ patients had higher HbA1c (10.7±1.8 vs. 8.4±1.0 (93±19 vs. 68±11 mmol/mol); p<0.01), more hypoglycaemic episodes (five vs. two; p<0.05), higher prevalence of iron and vitamin B12 deficiency, lower insulin-like growth factor-1 (IGF-1) levels and lower bone mineral density (BMD) z-score at total body (-1.91±1.05 vs. -0.63±0.73; p<0.05) and lumbar spine (-1.69±0.92 vs. -0.36±0.93; p<0.05). The incidence of fractures in the past 3years was also more in CA+ patients than in CA- patients (four vs. one; p<0.05). CONCLUSION: CA has an important autoimmune association with T1DM. The concomitant presence of CA adversely affects stature, bone health, glycaemic control and iron and B12 levels in T1DM. IgA sufficiency should be ensured before using an IgA-based screening test for CA.

Curious case of missing (A) in coeliac disease with type 1 diabetes mellitus.

Coeliac screening in type 1 diabetes mellitus (T1DM) is universally recommended, but not all authorities recommend serum IgA estimation before using an IgA-based test. We report a case of T1DM with poor glycaemic control and recurrent episodes of hypoglycaemias and diabetic ketoacidosis (DKA). Recurrent oromucosal and respiratory infections further complicated the course of illness, resulting in the increasing proneness to DKA. The patient was screened for coeliac disease but the IgA-based screening test was negative (IgA tissue transglutaminase) due to the low IgA level, whereas the IgG antigliadin was positive. The patient benefited from initiation of a gluten-free diet.

Uncontrolled hyperglycaemia: a reversible cause of hemichorea-hemiballismus.

Hyperosmolar hyperglycaemic state (HHS) an acute complication of diabetes mellitus, can be associated with neurological involvement ranging from seizures, involuntary movements to reversible focal neurological deficits without any structural lesions. We report a 71-year-old woman, a known case of type 2 diabetes mellitus who presented with the sudden onset of hemichorea-hemiballismus. On investigations she had hyperglycaemia and urinary tract infection. Achievement of euglycemia with insulin therapy resolved the involuntary movements completely. This highlights the fact that HHS is an uncommon but easily treatable cause of recent onset unilateral hemichorea-hemiballismus.