Unusual manifestations associated with primary hypothyroidism: Experience from a tertiary care health center / Journal of the ASEAN Federation of Endocrine Societies

@#Hypothyroidism is a commonly diagnosed endocrine disorder. Typical signs and symptoms of hypothyroidism include lethargy, cold intolerance, hoarseness, dry skin, constipation, delayed relaxation phase of deep tendon reflexes, and bradycardia. However, some patients may present with unusual signs and symptoms of hypothyroidism which can result in diagnostic confusion. Besides the usual clinical manifestations of primary hypothyroidism, some signs are very unusual and not commonly recorded. The treating physician may not be familiar with them. Hence, timely identification of these unusual presentations is very important for early intervention and treatment.

Macroglossia: An uncommon manifestation of primary hypothyroidism due to Hashimoto's Thyroiditis in a teenage child / Journal of the ASEAN Federation of Endocrine Societies

@#Thyroid disorders are prevalent in the paediatric population and untreated hypothyroidism leads to several adverse consequences like mental retardation, neurological impairment, short stature, delayed puberty and increased morbidity. Owing to a wide range of non-specific clinical manifestations, one must have a high index of suspicion for timely diagnosis and treatment of primary hypothyroidism. We describe the case of an adolescent girl who presented with short stature, delayed puberty and feeding difficulties owing to undiagnosed and subsequently untreated hypothyroidism.

Turner syndrome with pseudohypoparathyroidism: A case report / Journal of the ASEAN Federation of Endocrine Societies

@#<p style="text-align: justify;">The association of Pseudohypoparathyroidism (PHP) with Turner syndrome is very rare and only a single case has been reported so far. Both manifest with short stature and lack of secondary sexual characteristics along with other stigmata similar to each other, creating a diagnostic dilemma.<br />We describe a case of a 15-year-old Asian Indian female who presented with short stature and delayed puberty with overlapping phenotype of PHP and Turner syndrome. The diagnosis of Turner syndrome was made easily on the basis of typical history, clinical features and karyotype but the diagnosis of PHP was suspected only after radiological and biochemical investigations. The association of Turner syndrome with PHP can be easily missed due to similar phenotypes and subtle manifestations.</p>

Prognostic Factors in Patients Hospitalized with Diabetic Ketoacidosis

BACKGROUND: Diabetic ketoacidosis (DKA) is characterized by a biochemical triad of hyperglycemia, acidosis, and ketonemia. This condition is life-threatening despite improvements in diabetic care. The purpose of this study was to evaluate the clinical and biochemical prognostic markers of DKA. We assessed correlations in prognostic markers with DKA-associated morbidity and mortality. METHODS: Two hundred and seventy patients that were hospitalized with DKA over a period of 2 years were evaluated clinically and by laboratory tests. Serial assays of serum electrolytes, glucose, and blood pH were performed, and clinical outcome was noted as either discharged to home or death. RESULTS: The analysis indicated that significant predictors included sex, history of type 1 diabetes mellitus or type 2 diabetes mellitus, systolic blood pressure, diastolic blood pressure, total leukocyte count, Acute Physiology and Chronic Health Evaluation II (APACHE II) score, blood urea nitrogen, serum creatinine, serum magnesium, serum phosphate, serum osmolality, serum glutamic oxaloacetic transaminases, serum glutamic pyruvic transaminases, serum albumin, which were further regressed and subjected to multivariate logistic regression (MLR) analysis. The MLR analysis indicated that males were 7.93 times more likely to have favorable outcome compared with female patients (odds ratio, 7.93; 95% confidence interval, 3.99 to 13.51), while decreases in mean APACHE II score (14.83) and serum phosphate (4.38) at presentation may lead to 2.86- and 2.71-fold better outcomes, respectively, compared with higher levels (APACHE II score, 25.00; serum phosphate, 6.04). CONCLUSION: Sex, baseline biochemical parameters such as APACHE II score, and phosphate level were important predictors of the DKA-associated mortality.

Etiology of short stature in Northern India / Journal of the ASEAN Federation of Endocrine Societies

Objective@#Short stature can be caused by a great variety of congenital and acquired conditions, some of which present with additional symptoms and signs. Overall, the number of patients seeking medical attention for short stature may be considered as the tip of the iceberg. The objective of this study was to determine the pattern and etiological factors of short stature in children. @*Methodology@#A cross-sectional study was carried out in the Department of Endocrinology at a tertiary care health center in north India from August 2012 to June 2015. Four hundred and fifty one children (280 boys and 171 girls), ranging from 4 to 18 years presenting with short stature were studied. Anthropometric measurements were plotted on Indian standard growth charts. @*Results@#In this study, the male to female ratio was found to be 1.6:1, with mean chronological age of 11.6+3.2 years, and mean bone age of 7.8+2.8 years. The common etiologic factors in the order of frequency were constitutional delay in growth and puberty (41.2%), familial short stature (15.9%), type 1 diabetes mellitus (9.9%), and hypothyroidism (8.6%) while growth hormone deficiency (2.4%) was a relatively uncommon cause. The most common pathological cause for proportionate short stature was type 1 diabetes and for disproportionate short stature was hypothyroidism. Hypothyroidism caused the maximum retardation of bone age while the least bone age retardation was noticed in familial short stature. @*Conclusion@#Physiological/normal variants outnumbered the pathological causes of short stature. Endocrinological causes were found in almost one fourth of children with short stature; however, growth hormone deficiency was found in only 2.4% of the children.

Impact of a gluten-free diet on Sseveral growth parameters in children with Type 1 Diabetes Mellitus and Celiac Disease in Western Uttar Pradesh, India / Journal of the ASEAN Federation of Endocrine Societies

Background@#Celiac disease is frequently associated with uncontrolled blood sugar and impaired linear growth in a child with type 1 diabetes mellitus. @*Objective@#To study the impact of a gluten-free diet on several growth parameters in children with type 1 diabetes mellitus and celiac disease. @*Methodology@#Two hundred and fifty six patients with Type 1 diabetes mellitus were screened (149 males and 107 females) during the study period of two years. Patients were evaluated for the clinical signs, biochemical investigations and family history of celiac disease in a tertiary care health centre in Western Uttar Pradesh, India. @*Results@#Twenty four (9.3%) patients were diagnosed to have celiac disease; the mean age at diagnosis of diabetes was 9.37±7 years. Only one out of twenty four patients with celiac disease had been diagnosed before the detection of diabetes mellitus. Weight standard deviation score (SDS) increased from -0.12±1.3 at the start of gluten free diet to 0.8±0.9 after 12 months (p<0.004). Height SDS decreased from -2.46±1.1 at the start of gluten free diet to -2.14±0.9 after 12 months later (p=0.087). Bone age SDS increased from 9.2±6.3 at the start of gluten free diet to 10.3±6.7 after 12 months later. Height velocity increased from 4.7±0.7 cm/year in the year before treatment to 5.1+1.2 cm/year during treatment (p=0.05). The increase in Haemoglobin, serum calcium, and serum iron was statistically significant (p<0.05). @*Conclusion@#Patients with celiac disease associated with type 1 diabetes mellitus frequently have poor glycemic control and impairment in several growth parameters. When these patients are put on a gluten restricted diet, they show signs of improvement in terms of weight gain, height, serum Ca, serum iron, haemoglobin, and in height velocity.

Macroglossia: An uncommon manifestation of primary Hypothyroidism due to Hashimoto's Thyroiditis in a teenage child / Journal of the ASEAN Federation of Endocrine Societies

@#Thyroid disorders are prevalent in the paediatric population and untreated hypothyroidism leads to several adverse consequences like mental retardation, neurological impairment, short stature, delayed puberty and increased morbidity. Owing to a wide range of non-specific clinical manifestations, one must have a high index of suspicion for timely diagnosis and treatment of primary hypothyroidism. We describe the case of an adolescent girl who presented with short stature, delayed puberty and feeding difficulties owing to undiagnosed and subsequently untreated hypothyroidism.

McCune-Albright Syndrome with hypophosphatemic rickets / Journal of the ASEAN Federation of Endocrine Societies

@#Fibrous dysplasia (FD) is sometimes accompanied by extraskeletal manifestations that can include any combination of café-au-lait macules, hyperfunctioning endocrinopathies, such as gonadotropin-independent precocious puberty, hyperthyroidism, growth hormone excess, FGF23-mediated renal phosphate wasting, and/or Cushing’s syndrome, as well as other less common features. The combination of any of these findings, with or without FD, is known as McCune-Albright syndrome (MAS). The broad spectrum of involved tissues and the unpredictable combination of findings is because of a molecular defect due to dominant activating mutations in the widely expressed signalling protein Gsα. These mutations arise sporadically, often early in development, prior to gastrulation and can distribute across many or few tissues.1,2 We present a case of a 3½ year-old-girl who presented simultaneously with precocious puberty and hypophosphatemic rickets, along with fibrous dysplasia and café au lait macules.