Delayed presentation of turner syndrome: Challenge to optimal management

Background: Turner syndrome (TS) is a chromosomal disorder associated with dysmorphic features and comorbidities, with recent trends focusing on early diagnosis for adequate management. Aim: The aim is to study the age and mode of presentation of TS, associated comorbidities and look for any correlation with the genotype. Material and Methods: This was a retrospective analysis of girls with TS attending the endocrinology clinic of a tertiary care center. Their age, mode of presentation, and clinical features were noted. All participants underwent ear examination, echocardiography, and ultrasonography of the abdomen. Laboratory investigations included serum T4, thyroid-stimulating hormone, thyroid peroxidase antibodies, follicle-stimulating hormone, fasting, and 2-h plasma glucose after 75 g glucose load and a karyotype. Simple descriptive statistical methods were used. Results: Seventeen cases of TS were seen with a median age of presentation of 18 years (range 14–42 years). Primary amenorrhea was the most common reason for seeking medical attention (76.4%) followed by short stature and diabetes mellitus (11.8% each). The mean height at presentation was 137.5 ± 5.4 cm. Monosomy of X chromosome (45,X) was the most common karyotype obtained in 58.8% of the patients, followed by 45,X/46, XX in 17.6%, 45,X/46X,i(X)(q10) in 11.8%, and 45,X/47,XXX and 46X,delXp11.2 in 5.9% patients each. Bicuspid aortic valve was seen in two patients having a 45,X/46,XX karyotype. Conclusion: Primary amenorrhea is the most common presenting feature in girls with TS leading to a delayed age of presentation. Short stature and dysmorphic features are often overlooked in infancy and childhood due to socioeconomic factors. This late age of presentation is a cause of concern as early detection and management is important for height outcomes, bone health, and psychosocial support. Assessment of comorbidities becomes important in this setting

Hypomagnesemia in type 2 diabetes mellitus

Introduction: Hypomagnesemia is reported in type 2 diabetes; magnesium deficiency may play a role in the development of endothelial dysfunction and altered insulin function. Objective: To assess the incidence of hypomagnesemia among noncritically ill patients of Type 2 diabetes mellitus and to evaluate the relation of hypomagnesemia to glycemic control and various long-term complications of diabetes mellitus. Materials and Methods: One hundred and fifty, noncritically ill (APACHE score < 10) type 2 diabetes mellitus patients, who were admitted in the Departments of Medicine and Endocrinology, GMCH for uncontrolled hyperglycemia and/or various diabetic complications were studied. Serum magnesium was assessed at admission and rechecked in those found to be deficient. Results: Hypomagnesemia (Se magnesium < 1.6 mg/dl) was documented in 17 (11.33%) patients with a female:male ratio of 9:8. Mean HbA1c was 11.9% in the hypomagnesemic patients compared with 9.8% in controls (P =0.0016). Retinopathy, microalbuminuria, macroalbuminuria, foot ulceration, and neuropathy was present in 64%, 47%, 17.64%, 58.8%, and 82.35%, respectively, of the patients with hypomagnesemia as compared with 45.8% (P =0.118), 38.34% (P =0.704),15.03% (P =0.566), 22.55% (P =0.011) and 82.7% (P =0.976) without hypomagnesemia. Coronary artery disease was less common in the hypomagnesemia group (17.6% vs 39%), but comparable in the subgroup < 50 years (27% vs 25%) (P =0.796). Conclusion: Hypomagnesemia in diabetes was associated with poorer glycemic control, retinopathy, nephropathy, and foot ulcers

Contemporary issues in primary amenorrhea: An experience from a Tertiary Care Center

Introduction: Amenorrhea is classified as primary if menstrual bleeding has never occurred in the absence of hormonal treatment. The clinical significance of a lack of regular menstrual cycles extends beyond reproductive concerns. Episodes of amenorrhea as short as 90 day may have implications for bone and cardiovascular health. Aims and Objective: To evaluate all patients presenting with primary amenorrhea in the Endocrinology OPD of Gauhati Medical College and Hospital. Materials and Methods: A total of 14 patients presenting to the Endocrinology OPD from March 2010 to May 2012 with a history of primary amenorrhea were included in the study. All patients were subjected to a detailed history, a thorough clinical examination, and relevant biochemical, hormonal, and radiological investigations. Result: In our study, the average age of presentation was 17.23 ± 4.2 years. Out of the 14 patients presenting with primary amenorrhea, 5 patients (35.71%) were found to have Turner′s syndrome, 2 (14.28%) had XX (pure) gonadal dysgenesis, 2 (14.28%) patients had XY gonadal dysgenesis (Swyer syndrome), 2 (14.28%) patients had Müllerian agenesis, 2 (14.28%) patients had hypothalamic amenorrhea, and 1 (7.14%) patient was found to have multiple pituitary hormone deficiency. Conclusion: In concordance with other studies, Turner′s syndrome, Müllerian agenesis, and gonadal dysgenesis are the commonest causes of primary amenorrhea in our study. However, in contrast to certain Western reports, primary amenorrhea rather than short stature remains the commonest cause for seeking medical evaluation in patients with Turner′s syndrome

Cardiovascular risk factors in children and adolescents with subclinical hypothyroidism

Background: Subclinical hypothyroidism (SCH) is a commonly encountered entity in day-to-day clinical practice and has been associated with adverse cardiovascular risk profile in adults and children. Data on children and adolescents with SCH, from India, are limited. Materials and Methods: This study was a cross-sectional case–control study, conducted at a tertiary care center in Northeast India. Twenty-seven children and adolescents aged 11 ± 2.4 years with SCH and thyroid-stimulating hormone >7.5 mIU/L were included in the study along with 20 age-, gender-, and height-matched controls. Multiple clinical, biochemical, and radiological cardiovascular risk factors were assessed and compared between the two groups. Results: Body mass index (BMI) (P = 0.048), waist circumference (P = 0.008), waist to height ratio (P = 0.007), low-density lipoprotein cholesterol (P = 0.04), triglycerides (TGs) (P = 0.038), TGs to high-density lipoprotein (HDL) cholesterol ratio (P = 0.005), non-HDL cholesterol (P = 0.019), fasting insulin (P = 0.006), and homeostasis model assessment of insulin resistance (P = 0.007) were found to be significantly higher while free T4 (P = 0.002) and HDL cholesterol (P = 0.019) were found to be significantly lower in SCH subjects compared to controls. On multiple regression analysis, BMI was found to have significant association with multiple cardiovascular risk factors. Conclusion: Children and adolescents with SCH were found to have adverse cardiovascular risk profile. Long-term follow-up studies are required to assess the clinical significance of these findings and requirement for therapy

Diabetic myonecrosis: An underreported complication of diabetes mellitus

Diabetic myonecrosis is an underreported complication of long-standing, poorly controlled diabetes mellitus which is usually self-limiting and responds well to conservative management. Patients frequently have microvascular complications, and although short-term prognosis is good, the long-term prognosis is poor. We report four cases of diabetic myonecrosis admitted in a tertiary care hospital

Dual Ectopic Thyroid with Normally Located Thyroid: A Case Report

Dual ectopic thyroid is a rare presentation of thyroid ectopia. Only a few cases have been reported in the world literature. Dual ectopic thyroid in the presence of a normally located thyroid is even rarer. We report a case of dual ectopic thyroid in the lingual and submandibular areas in a seventeen-year-old female with hypoplastic thyroid gland in its normal location. The patient presented with a midline swelling at the base of tongue with dysphagia. Thyroid function test revealed primary hypothyroidism. Ultrasonography of the neck showed hypoplastic thyroid in its normal location. A thyroid scan with Technetium-99 m pertechnate showed two intensely hyperfunctioning foci of ectopic thyroid tissue at a higher level in the midline consistent with dual ectopic thyroid, one at the base of tongue and the other in submental region. No uptake was seen in the normal bed